Name

NCAPD2P1 Gene

non-SMC condensin I complex, subunit D2 pseudogene 1

LOC100421096 Gene

non-SMC condensin I complex, subunit G pseudogene

NCAPH2 Gene

non-SMC condensin II complex, subunit H2

This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010]

NCAPG2 Gene

non-SMC condensin II complex, subunit G2

This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

LOC100421148 Gene

non-SMC condensin I complex, subunit G pseudogene

NCAPH Gene

non-SMC condensin I complex, subunit H

This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]

NCAPG Gene

non-SMC condensin I complex, subunit G

This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

NCAPD2 Gene

non-SMC condensin I complex, subunit D2

NCAPD3 Gene

non-SMC condensin II complex, subunit D3

Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPD3 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM, Mar 2008]

LOC100507083 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene

ATP5G2P1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 1

ATP5G2P3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 3

ATP5G2P2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 2

ATP5G2P4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 4

ATP5G3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010]

ATP5G2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene has multiple pseudogenes. [provided by RefSeq, Jun 2010]

ATP5G1P3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 3

ATP5G1P1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 1

ATP5G1P2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 2

ATP5G1P6 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 6

ATP5G1P7 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 7

ATP5G1P4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 4

ATP5G1P5 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 5

ATP5G1P8 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 8

ATP5G1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

LOC100421559 Gene

adaptor-related protein complex 5, mu 1 subunit pseudogene

DRC7 Gene

dynein regulatory complex subunit 7

DRC1 Gene

dynein regulatory complex subunit 1

OSTCP7 Gene

oligosaccharyltransferase complex subunit pseudogene 7

OSTCP4 Gene

oligosaccharyltransferase complex subunit pseudogene 4

OSTCP2 Gene

oligosaccharyltransferase complex subunit pseudogene 2

SKA1 Gene

spindle and kinetochore associated complex subunit 1

SKA3 Gene

spindle and kinetochore associated complex subunit 3

This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

SKA2 Gene

spindle and kinetochore associated complex subunit 2

ELP6 Gene

elongator acetyltransferase complex subunit 6

ELP5 Gene

elongator acetyltransferase complex subunit 5

ELP4 Gene

elongator acetyltransferase complex subunit 4

This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

ELP3 Gene

elongator acetyltransferase complex subunit 3

ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009]

ELP2 Gene

elongator acetyltransferase complex subunit 2

MT-ND1 Gene

NADH dehydrogenase, subunit 1 (complex I)

MT-ND3 Gene

NADH dehydrogenase, subunit 3 (complex I)

MT-ND4 Gene

NADH dehydrogenase, subunit 4 (complex I)

MT-ND5 Gene

NADH dehydrogenase, subunit 5 (complex I)

MT-ND6 Gene

NADH dehydrogenase, subunit 6 (complex I)

ANAPC1 Gene

anaphase promoting complex subunit 1

This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011]

ANAPC2 Gene

anaphase promoting complex subunit 2

A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The product of this gene is a component of the complex and shares sequence similarity with a recently identified family of proteins called cullins, which may also be involved in ubiquitin-mediated degradation. [provided by RefSeq, Jul 2008]

ANAPC5 Gene

anaphase promoting complex subunit 5

This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [provided by RefSeq, Nov 2008]

ANAPC4 Gene

anaphase promoting complex subunit 4

A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

ANAPC7 Gene

anaphase promoting complex subunit 7

This gene encodes a tetratricopeptide repeat containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

BLOC1S6 Gene

biogenesis of lysosomal organelles complex-1, subunit 6, pallidin

The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

BLOC1S1 Gene

biogenesis of lysosomal organelles complex-1, subunit 1

BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]

ANAPC1P1 Gene

anaphase promoting complex subunit 1 pseudogene 1

AP1S1 Gene

adaptor-related protein complex 1, sigma 1 subunit

The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]

ATP5L2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2

NACA Gene

nascent polypeptide-associated complex alpha subunit

The protein encoded by this gene associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). NAC binds to nascent proteins as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. However, nascent proteins with an exposed signal peptide will not be bound by the encoded protein, enabling them to bind the SRP and enter the secretory pathway. This protein has been determined to be an IgE autoantigen in atopic dermatitis patients. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

INTS12 Gene

integrator complex subunit 12

INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

INTS10 Gene

integrator complex subunit 10

INTS10 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

LOC100127892 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene

AP5B1 Gene

adaptor-related protein complex 5, beta 1 subunit

AP5Z1 Gene

adaptor-related protein complex 5, zeta 1 subunit

This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]

BRK1P2 Gene

BRICK1, SCAR/WAVE actin-nucleating complex subunit pseudogene 2

MED13P1 Gene

mediator complex subunit 13 pseudogene 1

INTS4P1 Gene

integrator complex subunit 4 pseudogene 1

INTS4P2 Gene

integrator complex subunit 4 pseudogene 2

SKA2P1 Gene

spindle and kinetochore associated complex subunit 2 pseudogene 1

AP2B1 Gene

adaptor-related protein complex 2, beta 1 subunit

The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

MED15P7 Gene

mediator complex subunit 15 pseudogene 7

MED15P6 Gene

mediator complex subunit 15 pseudogene 6

MED15P5 Gene

mediator complex subunit 15 pseudogene 5

MED15P4 Gene

mediator complex subunit 15 pseudogene 4

MED15P1 Gene

mediator complex subunit 15 pseudogene 1

MED15P9 Gene

mediator complex subunit 15 pseudogene 9

INO80 Gene

INO80 complex subunit

This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling complex, which is characterized by a DNA-binding domain. This protein is proposed to bind DNA and be recruited by the YY1 transcription factor to activate certain genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

KANSL1L Gene

KAT8 regulatory NSL complex subunit 1-like

LOC100289091 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2 pseudogene

LOC100192388 Gene

anaphase promoting complex subunit 13 pseudogene

LOC100192389 Gene

anaphase promoting complex subunit 13 pseudogene

CNOT4 Gene

CCR4-NOT transcription complex, subunit 4

The protein encoded by this gene is a subunit of the CCR4-NOT complex, a global transcriptional regulator. The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]

LOC100418484 Gene

KAT8 regulatory NSL complex subunit 1 pseudogene

ARPC5L Gene

actin related protein 2/3 complex, subunit 5-like

LOC646112 Gene

origin recognition complex, subunit 3-like (yeast) pseudogene

TPGS2 Gene

tubulin polyglutamylase complex subunit 2

This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]

TPGS1 Gene

tubulin polyglutamylase complex subunit 1

LOC653653 Gene

adaptor-related protein complex 1, sigma 2 subunit pseudogene

CNOT7P2 Gene

CCR4-NOT transcription complex, subunit 7 pseudogene 2

CNOT7P1 Gene

CCR4-NOT transcription complex, subunit 7 pseudogene 1

ATP5J2LP Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2-like pseudogene

DGCR8 Gene

DGCR8 microprocessor complex subunit

This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of microRNAs from the primary microRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RNA by the ribonuclease III protein, Drosha. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]

CACTIN Gene

cactin, spliceosome C complex subunit

LOC100288416 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene

LOC643454 Gene

adaptor-related protein complex 3, sigma 1 subunit pseudogene

AP3M1 Gene

adaptor-related protein complex 3, mu 1 subunit

The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane and may be directly involved in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

AP3M2 Gene

adaptor-related protein complex 3, mu 2 subunit

This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008]

LOC100289381 Gene

adaptor-related protein complex 3, sigma 1 subunit pseudogene

BRCC3P1 Gene

BRCA1/BRCA2-containing complex, subunit 3 pseudogene 1

LOC102724200 Gene

trafficking protein particle complex subunit 10-like

ICE2P2 Gene

interactor of little elongation complex ELL subunit 2 pseudogene 2

ICE2P1 Gene

interactor of little elongation complex ELL subunit 2 pseudogene 1

LOC260421 Gene

actin related protein 2/3 complex subunit 1A pseudogene

LOC260422 Gene

actin related protein 2/3 complex subunit 1A pseudogene

AP4B1 Gene

adaptor-related protein complex 4, beta 1 subunit

This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

STT3B Gene

STT3B, subunit of the oligosaccharyltransferase complex (catalytic)

The protein encoded by this gene is a catalytic subunit of a protein complex that transfers oligosaccharides onto asparagine residues. Defects in this gene are a cause of congenital disorder of glycosylation Ix (CDG1X). [provided by RefSeq, Jun 2014]

STT3A Gene

STT3A, subunit of the oligosaccharyltransferase complex (catalytic)

SWAP70 Gene

SWAP switching B-cell complex 70kDa subunit

AP2A1 Gene

adaptor-related protein complex 2, alpha 1 subunit

This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]

AP2A2 Gene

adaptor-related protein complex 2, alpha 2 subunit

ATP5JP1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 pseudogene 1

ATP5A1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]

NACA2 Gene

nascent polypeptide-associated complex alpha subunit 2

LOC100130035 Gene

biogenesis of lysosome-related organelles complex 1 subunit 6-like

LOC644310 Gene

ubiquinol-cytochrome c reductase, complex III subunit X pseudogene

LOC100131348 Gene

adaptor-related protein complex 2, beta 1 subunit pseudogene

LOC100422044 Gene

actin related protein 2/3 complex, subunit 1A, 41kDa pseudogene

ATP5J2P6 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 6

ATP5J2P4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 4

ATP5J2P5 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 5

ATP5J2P2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 2

ATP5J2P3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 3

LOC391247 Gene

GINS complex subunit 2 (Psf2 homolog) pseudogene

ATP5S Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ATP5J Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex, required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. A pseudogene exists on chromosome Yp11.[provided by RefSeq, Jun 2010]

ATP5I Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]

ATP5H Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010]

ATP5O Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit

The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]

ATP5E Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011]

ATP5D Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

LOC105379604 Gene

set1/Ash2 histone methyltransferase complex subunit ASH2 pseudogene

LOC100132849 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit pseudogene

HAUS8P1 Gene

HAUS augmin-like complex, subunit 8 pseudogene 1

LOC285074 Gene

anaphase promoting complex subunit 1 pseudogene

ARPC4 Gene

actin related protein 2/3 complex, subunit 4, 20kDa

This gene encodes one of seven subunits of the human Arp2/3 protein complex. This complex controls actin polymerization in cells and has been conserved throughout eukaryotic evolution. This gene encodes the p20 subunit, which is necessary for actin nucleation and high-affinity binding to F-actin. Alternative splicing results in multiple transcript variants. Naturally occurring read-through transcription exists between this gene and the downstream tubulin tyrosine ligase-like family, member 3 (TTLL3), which results in the production of a fusion protein. [provided by RefSeq, Nov 2010]

EZH2P1 Gene

enhancer of zeste 2 polycomb repressive complex 2 subunit pseudogene 1

ARPC3P4 Gene

actin related protein 2/3 complex, subunit 3 pseudogene 4

XKRYP6 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 6

XKRYP4 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 4

XKRYP5 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 5

XKRYP2 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 2

XKRYP3 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 3

XKRYP1 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 1

LOC102723574 Gene

HAUS augmin-like complex subunit 6 pseudogene

AP1S2 Gene

adaptor-related protein complex 1, sigma 2 subunit

Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

AP1S3 Gene

adaptor-related protein complex 1, sigma 3 subunit

This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

ATP5J2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010]

LOC100420889 Gene

anaphase promoting complex subunit 1 pseudogene

AP4E1 Gene

adaptor-related protein complex 4, epsilon 1 subunit

This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

MED30 Gene

mediator complex subunit 30

The multiprotein TRAP/Mediator complex facilitates gene expression through a wide variety of transcriptional activators. MED30 is a component of this complex that appears to be metazoan specific (Baek et al., 2002 [PubMed 11909976]).[supplied by OMIM, Nov 2010]

MED31 Gene

mediator complex subunit 31

MED23 Gene

mediator complex subunit 23

The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2012]

UQCR10 Gene

ubiquinol-cytochrome c reductase, complex III subunit X

UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM, Mar 2008]

UQCR11 Gene

ubiquinol-cytochrome c reductase, complex III subunit XI

This gene encodes the smallest known component of the ubiquinol-cytochrome c reductase complex, which forms part of the mitochondrial respiratory chain. The encoded protein may function as a binding factor for the iron-sulfur protein in this complex. [provided by RefSeq, Oct 2009]

MED14P1 Gene

mediator complex subunit 14 pseudogene 1

UQCRQ Gene

ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa

This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008]

LOC100288031 Gene

BRICK1, SCAR/WAVE actin-nucleating complex subunit pseudogene

AP4M1 Gene

adaptor-related protein complex 4, mu 1 subunit

This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]

SDHA Gene

succinate dehydrogenase complex, subunit A, flavoprotein (Fp)

This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

SDHC Gene

succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa

This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]

SDHB Gene

succinate dehydrogenase complex, subunit B, iron sulfur (Ip)

Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008]

SDHD Gene

succinate dehydrogenase complex, subunit D, integral membrane protein

This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]

CNOT6LP1 Gene

CCR4-NOT transcription complex, subunit 6-like pseudogene 1

MED12L Gene

mediator complex subunit 12-like

The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]

ATP5EP1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 1

ATP5EP2 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2

COPB1 Gene

coatomer protein complex, subunit beta 1

This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

COPB2 Gene

coatomer protein complex, subunit beta 2 (beta prime)

The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM, Jul 2002]

LOC100288663 Gene

actin related protein 2/3 complex, subunit 1A, 41kDa pseudogene

MED1 Gene

mediator complex subunit 1

The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. [provided by RefSeq, Jul 2008]

MED6 Gene

mediator complex subunit 6

MED4 Gene

mediator complex subunit 4

This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

MED8 Gene

mediator complex subunit 8

This gene encodes a protein component of the mediator complex, which aids in transcriptional activation through interaction with RNA polymerase II and gene-specific transcription factors. The encoded protein may also function in ubiquitin ligation and protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

MED9 Gene

mediator complex subunit 9

The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

AP3S2 Gene

adaptor-related protein complex 3, sigma 2 subunit

AP3S1 Gene

adaptor-related protein complex 3, sigma 1 subunit

LOC340569 Gene

origin recognition complex, subunit 1 pseudogene

VKORC1 Gene

vitamin K epoxide reductase complex, subunit 1

Vitamin K is essential for blood clotting but must be enzymatically activated. This enzymatically activated form of vitamin K is a reduced form required for the carboxylation of glutamic acid residues in some blood-clotting proteins. The product of this gene encodes the enzyme that is responsible for reducing vitamin K 2,3-epoxide to the enzymatically activated form. Fatal bleeding can be caused by vitamin K deficiency and by the vitamin K antagonist warfarin, and it is the product of this gene that is sensitive to warfarin. In humans, mutations in this gene can be associated with deficiencies in vitamin-K-dependent clotting factors and, in humans and rats, with warfarin resistance. Two pseudogenes have been identified on chromosome 1 and the X chromosome. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

ATP5HP1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 1

ATP5HP3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 3

ATP5HP2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 2

ATP5HP4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 4

VKORC1L1 Gene

vitamin K epoxide reductase complex, subunit 1-like 1

LOC646794 Gene

SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) pseudogene

BLOC1S5 Gene

biogenesis of lysosomal organelles complex-1, subunit 5, muted

This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]

BLOC1S3 Gene

biogenesis of lysosomal organelles complex-1, subunit 3

This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]

BLOC1S2 Gene

biogenesis of lysosomal organelles complex-1, subunit 2

This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

EMC9 Gene

ER membrane protein complex subunit 9

EMC8 Gene

ER membrane protein complex subunit 8

EMC3 Gene

ER membrane protein complex subunit 3

EMC2 Gene

ER membrane protein complex subunit 2

EMC1 Gene

ER membrane protein complex subunit 1

This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012]

EMC7 Gene

ER membrane protein complex subunit 7

EMC6 Gene

ER membrane protein complex subunit 6

EMC4 Gene

ER membrane protein complex subunit 4

EZH1 Gene

enhancer of zeste 1 polycomb repressive complex 2 subunit

EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMed 19026780]).[supplied by OMIM, Mar 2009]

EZH2 Gene

enhancer of zeste 2 polycomb repressive complex 2 subunit

This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]

TEN1 Gene

TEN1 CST complex subunit

C17ORF106, or TEN1, appears to function in a telomere-associated complex with STN1 (OBFC1; MIM 613128) and CTC1 (C17ORF68; MIM 613129) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]

KANSL3 Gene

KAT8 regulatory NSL complex subunit 3

KANSL2 Gene

KAT8 regulatory NSL complex subunit 2

KANSL1 Gene

KAT8 regulatory NSL complex subunit 1

This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]

LOC441241 Gene

vitamin K epoxide reductase complex, subunit 1-like 1 pseudogene

SPCS2P1 Gene

signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 1

SPCS2P2 Gene

signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 2

INTS3 Gene

integrator complex subunit 3

INTS3 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]). INTS3 is also a subunit of single-stranded DNA (ssDNA)-binding complexes involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]

INTS2 Gene

integrator complex subunit 2

INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

INTS1 Gene

integrator complex subunit 1

INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

INTS7 Gene

integrator complex subunit 7

This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3'-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

INTS6 Gene

integrator complex subunit 6

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3' end processing of snRNAs. In addition, this gene is a candidate tumor suppressor and is located in the critical region of loss of heterozygosity (LOH). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2015]

INTS5 Gene

integrator complex subunit 5

INTS5 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

INTS4 Gene

integrator complex subunit 4

INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

INTS9 Gene

integrator complex subunit 9

This gene encodes a subunit of the Integrator complex. This protein complex binds the C-terminal domain of RNA polymerase II and likely plays a role in small nuclear RNA processing. The encoded protein has similarities to the subunits of the cleavage and polyadenylation specificity factor complex. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

INTS8 Gene

integrator complex subunit 8

This gene encodes a subunit of the Integrator complex which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

LOC642502 Gene

succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa pseudogene

SNF8 Gene

SNF8, ESCRT-II complex subunit

SNF8, VPS25 (MIM 610907), and VPS36 (MIM 610903) form ESCRT-II (endosomal sorting complex required for transport II), a complex involved in endocytosis of ubiquitinated membrane proteins. SNF8, VPS25, and VPS36 are also associated in a multiprotein complex with RNA polymerase II elongation factor (ELL; MIM 600284) (Slagsvold et al., 2005 [PubMed 15755741]; Kamura et al., 2001 [PubMed 11278625]).[supplied by OMIM, Mar 2008]

MED28P3 Gene

mediator complex subunit 28 pseudogene 3

MED28P1 Gene

mediator complex subunit 28 pseudogene 1

MED28P7 Gene

mediator complex subunit 28 pseudogene 7

MED28P4 Gene

mediator complex subunit 28 pseudogene 4

MED28P8 Gene

mediator complex subunit 28 pseudogene 8

CNOT4P1 Gene

CCR4-NOT transcription complex, subunit 4 pseudogene 1

GID4 Gene

GID complex subunit 4

The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

GID8 Gene

GID complex subunit 8

ANAPC13 Gene

anaphase promoting complex subunit 13

This gene encodes a component of the anaphase promoting complex, a large ubiquitin-protein ligase that controls cell cycle progression by regulating the degradation of cell cycle regulators such as B-type cyclins. The encoded protein is evolutionarily conserved and is required for the integrity and ubiquitin ligase activity of the anaphase promoting complex. Pseudogenes and splice variants have been found for this gene; however, the biological validity of some of the splice variants has not been determined. [provided by RefSeq, Nov 2008]

LOC730268 Gene

anaphase-promoting complex subunit 1-like

LOC102724642 Gene

anaphase-promoting complex subunit 1-like

LOC101060022 Gene

nascent polypeptide-associated complex subunit alpha, muscle-specific form-like

CNOT6L Gene

CCR4-NOT transcription complex, subunit 6-like

INTS6P1 Gene

integrator complex subunit 6 pseudogene 1

LOC101928892 Gene

nascent polypeptide-associated complex subunit alpha, muscle-specific form-like

COPZ1 Gene

coatomer protein complex, subunit zeta 1

This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

COPZ2 Gene

coatomer protein complex, subunit zeta 2

This gene encodes a member of the adaptor complexes small subunit family. The encoded protein is a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of COPI-type, non-clathrin-coated vesicles. COPI vesicles function in the retrograde Golgi-to-ER transport of dilysine-tagged proteins. [provided by RefSeq, Feb 2014]

COPG2 Gene

coatomer protein complex, subunit gamma 2

COPG1 Gene

coatomer protein complex, subunit gamma 1

SDHCP1 Gene

succinate dehydrogenase complex, subunit C pseudogene 1

SDHCP2 Gene

succinate dehydrogenase complex, subunit C pseudogene 2

SDHCP3 Gene

succinate dehydrogenase complex, subunit C pseudogene 3

SDHCP4 Gene

succinate dehydrogenase complex, subunit C pseudogene 4

LOC100420127 Gene

mediator complex subunit 13 pseudogene

ASCC3 Gene

activating signal cointegrator 1 complex subunit 3

This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

ASCC2 Gene

activating signal cointegrator 1 complex subunit 2

ASCC1 Gene

activating signal cointegrator 1 complex subunit 1

This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

LOC105379572 Gene

KAT8 regulatory NSL complex subunit 1-like

SPCS2P4 Gene

signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 4

SPCS2P3 Gene

signal peptidase complex subunit 2 homolog (S. cerevisiae) pseudogene 3

ATP5A1P4 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 4

ATP5A1P5 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 5

ATP5A1P7 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 7

ATP5A1P2 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 2

ATP5A1P3 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 3

ATP5A1P8 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 8

AP2S1 Gene

adaptor-related protein complex 2, sigma 1 subunit

One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

HAUS8 Gene

HAUS augmin-like complex, subunit 8

HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]

HAUS6 Gene

HAUS augmin-like complex, subunit 6

The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]

HAUS7 Gene

HAUS augmin-like complex, subunit 7

This gene encodes a subunit of the augmin complex, which regulates centrosome and mitotic spindle integrity, and is necessary for the completion of cytokinesis. The encoded protein was identified by interaction with ubiquitin C-terminal hydrolase 37. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]

HAUS4 Gene

HAUS augmin-like complex, subunit 4

This gene encodes a subunit of the centrosome complex termed the human augmin complex. The encoded protein localizes to the spindle microtubules and may play a role in mitotic spindle assembly and maintenance of centrosome integrity during cell division. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009]

HAUS5 Gene

HAUS augmin-like complex, subunit 5

HAUS5 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]

HAUS2 Gene

HAUS augmin-like complex, subunit 2

HAUS2 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]

HAUS3 Gene

HAUS augmin-like complex, subunit 3

This gene encodes a component of the HAUS augmin-like protein complex, which plays a key role in cytokinesis and mitosis. Disruption of the encoded protein causes mitotic defects resulting from fragmentation of centrosomes and microtubule destabilization. This gene shares its 5' exons with some transcripts from overlapping GeneID: 353497, which encodes a DNA polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

HAUS1 Gene

HAUS augmin-like complex, subunit 1

HAUS1 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]

ATP5A1P10 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 10

LOC100132812 Gene

nascent polypeptide-associated complex alpha subunit 2 pseudogene

MED10 Gene

mediator complex subunit 10

MED10 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]

MED11 Gene

mediator complex subunit 11

MED11 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]

MED12 Gene

mediator complex subunit 12

The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]

MED13 Gene

mediator complex subunit 13

This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008]

MED14 Gene

mediator complex subunit 14

The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein contains a bipartite nuclear localization signal. This gene is known to escape chromosome X-inactivation. [provided by RefSeq, Jul 2008]

MED15 Gene

mediator complex subunit 15

The protein encoded by this gene is a subunit of the multiprotein complexes PC2 and ARC/DRIP and may function as a transcriptional coactivator in RNA polymerase II transcription. This gene contains stretches of trinucleotide repeats and is located in the chromosome 22 region which is deleted in DiGeorge syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

MED16 Gene

mediator complex subunit 16

MED17 Gene

mediator complex subunit 17

The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]

MED18 Gene

mediator complex subunit 18

MED18 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]

MED19 Gene

mediator complex subunit 19

MED19 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]

XKR9 Gene

XK, Kell blood group complex subunit-related family, member 9

XKR8 Gene

XK, Kell blood group complex subunit-related family, member 8

ATP5F1P1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 1

ATP5F1P3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 3

ATP5F1P5 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 5

ATP5F1P4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 4

ATP5F1P7 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 7

ATP5F1P6 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 6

CRSP8P Gene

mediator complex subunit 27 pseudogene

LOC100420890 Gene

anaphase promoting complex subunit 1 pseudogene

AP3D1 Gene

adaptor-related protein complex 3, delta 1 subunit

The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

BRK1 Gene

BRICK1, SCAR/WAVE actin-nucleating complex subunit

AP1M2 Gene

adaptor-related protein complex 1, mu 2 subunit

This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

AP1M1 Gene

adaptor-related protein complex 1, mu 1 subunit

The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ATP5LP5 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 5

ATP5LP4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 4

ATP5LP7 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 7

ATP5LP6 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 6

ATP5LP1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 1

ATP5LP3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 3

ATP5LP2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 2

ATP5LP8 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 8

MED7 Gene

mediator complex subunit 7

The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

HAUS4P1 Gene

HAUS augmin-like complex, subunit 4 pseudogene 1

EMC10 Gene

ER membrane protein complex subunit 10

OSTCP6 Gene

oligosaccharyltransferase complex subunit pseudogene 6

OSTCP5 Gene

oligosaccharyltransferase complex subunit pseudogene 5

OSTCP3 Gene

oligosaccharyltransferase complex subunit pseudogene 3

OSTCP1 Gene

oligosaccharyltransferase complex subunit pseudogene 1

OSTCP8 Gene

oligosaccharyltransferase complex subunit pseudogene 8

LOC220729 Gene

succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene

LOC101060016 Gene

signal peptidase complex subunit 3-like

SUZ12 Gene

SUZ12 polycomb repressive complex 2 subunit

This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. [provided by RefSeq, Jul 2009]

AP4S1 Gene

adaptor-related protein complex 4, sigma 1 subunit

This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]

LOC100652955 Gene

COP9 signalosome complex subunit 3 pseudogene

BLOC1S4 Gene

biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]

ARPC1B Gene

actin related protein 2/3 complex, subunit 1B, 41kDa

This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011]

ARPC1A Gene

actin related protein 2/3 complex, subunit 1A, 41kDa

This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

LOC402096 Gene

anaphase-promoting complex subunit 1-like

SDHDP7 Gene

succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 7

SDHDP6 Gene

succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 6

SDHDP5 Gene

succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 5

SDHDP4 Gene

succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 4

SDHDP3 Gene

succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 3

SDHDP2 Gene

succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 2

SDHDP1 Gene

succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 1

XKRY2 Gene

XK, Kell blood group complex subunit-related, Y-linked 2

This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

AP5S1 Gene

adaptor-related protein complex 5, sigma 1 subunit

ATP5F1P2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 2

MED29 Gene

mediator complex subunit 29

MED29 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003 [PubMed 14576168]).[supplied by OMIM, Aug 2009]

MED28 Gene

mediator complex subunit 28

MED21 Gene

mediator complex subunit 21

This gene encodes a member of the mediator complex subunit 21 family. The encoded protein interacts with the human RNA polymerase II holoenzyme and is involved in transcriptional regulation of RNA polymerase II transcribed genes. A pseudogene of this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

MED20 Gene

mediator complex subunit 20

This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. A mutation in this gene has been associated with a novel infantile-onset neurodegenerative movement disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

MED22 Gene

mediator complex subunit 22

This gene encodes a protein component of the mediator complex, which functions in the regulation of transcription by bridging interactions between gene-specific regulatory factors, RNA polymerase II, and general transcription factors. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]

MED25 Gene

mediator complex subunit 25

This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010]

MED24 Gene

mediator complex subunit 24

This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

MED27 Gene

mediator complex subunit 27

The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]

LOC101928010 Gene

histone deacetylase complex subunit SAP25 pseudogene

AP1B1P1 Gene

adaptor-related protein complex 1, beta 1 subunit pseudogene 1

AP1B1P2 Gene

adaptor-related protein complex 1, beta 1 subunit pseudogene 2

HAUS1P1 Gene

HAUS augmin-like complex, subunit 1 pseudogene 1

HAUS1P3 Gene

HAUS augmin-like complex, subunit 1 pseudogene 3

HAUS1P2 Gene

HAUS augmin-like complex, subunit 1 pseudogene 2

ATP5L Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]

MED13L Gene

mediator complex subunit 13-like

The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]

FRAS1 Gene

Fraser extracellular matrix complex subunit 1

This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

LOC105379735 Gene

integrator complex subunit 4-like protein 2

LOC101929322 Gene

integrator complex subunit 4-like protein 2

AP1B1 Gene

adaptor-related protein complex 1, beta 1 subunit

Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

BRCC3 Gene

BRCA1/BRCA2-containing complex, subunit 3

This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains, and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jun 2011]

MT-ND4L Gene

NADH dehydrogenase, subunit 4L (complex I)

INO80D Gene

INO80 complex subunit D

INO80E Gene

INO80 complex subunit E

INO80B Gene

INO80 complex subunit B

This gene encodes a subunit of an ATP-dependent chromatin remodeling complex, INO80, which plays a role in DNA and nucleosome-activated ATPase activity and ATP-dependent nucleosome sliding. Readthrough transcription of this gene into the neighboring downstream gene, which encodes WW domain-binding protein 1, generates a non-coding transcript. [provided by RefSeq, Feb 2011]

INO80C Gene

INO80 complex subunit C

AP2M1 Gene

adaptor-related protein complex 2, mu 1 subunit

This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

HAUS6P2 Gene

HAUS augmin-like complex, subunit 6 pseudogene 2

HAUS6P1 Gene

HAUS augmin-like complex, subunit 6 pseudogene 1

ICE2 Gene

interactor of little elongation complex ELL subunit 2

ICE1 Gene

interactor of little elongation complex ELL subunit 1

LOC105379556 Gene

nascent polypeptide-associated complex subunit alpha, muscle-specific form-like

LOC101060099 Gene

CST complex subunit TEN1-like

LOC101929932 Gene

AP-3 complex subunit sigma-1 pseudogene

LOC100422641 Gene

STT3A, subunit of the oligosaccharyltransferase complex (catalytic) pseudogene

CNOT8 Gene

CCR4-NOT transcription complex, subunit 8

CNOT3 Gene

CCR4-NOT transcription complex, subunit 3

CNOT2 Gene

CCR4-NOT transcription complex, subunit 2

This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

CNOT1 Gene

CCR4-NOT transcription complex, subunit 1

CNOT7 Gene

CCR4-NOT transcription complex, subunit 7

The protein encoded by this gene binds to an anti-proliferative protein, B-cell translocation protein 1, which negatively regulates cell proliferation. Binding of the two proteins, which is driven by phosphorylation of the anti-proliferative protein, causes signaling events in cell division that lead to changes in cell proliferation associated with cell-cell contact. The encoded protein downregulates the innate immune response and therefore provides a therapeutic target for enhancing its antimicrobial activity against foreign agents. Alternate splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]

CNOT6 Gene

CCR4-NOT transcription complex, subunit 6

This gene encodes the catalytic component of the CCR4-NOT core transcriptional regulation complex. The encoded protein has a 3'-5' RNase activity and prefers polyadenylated substrates. The CCR4-NOT complex plays a role in many cellular processes, including miRNA-mediated repression, mRNA degradation, and transcriptional regulation. [provided by RefSeq, Dec 2014]

ATP5F1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008]

ORC6 Gene

origin recognition complex, subunit 6

The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. [provided by RefSeq, Oct 2010]

ORC4 Gene

origin recognition complex, subunit 4

The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010]

ORC5 Gene

origin recognition complex, subunit 5

The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010]

ORC2 Gene

origin recognition complex, subunit 2

The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. This protein forms a core complex with ORC3, -4, and -5. It also interacts with CDC45 and MCM10, which are proteins known to be important for the initiation of DNA replication. This protein has been demonstrated to specifically associate with the origin of replication of Epstein-Barr virus in human cells, and is thought to be required for DNA replication from viral origin of replication. Alternatively spliced transcript variants have been found, one of which is a nonsense-mediated mRNA decay candidate. [provided by RefSeq, Oct 2010]

ORC3 Gene

origin recognition complex, subunit 3

The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]

ORC1 Gene

origin recognition complex, subunit 1

The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is the largest subunit of the ORC complex. While other ORC subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

GINS2 Gene

GINS complex subunit 2 (Psf2 homolog)

The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1 (GINS1; MIM 610608), Psf2, and Psf3 (GINS3; MIM 610610). The formation of this complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008]

GINS3 Gene

GINS complex subunit 3 (Psf3 homolog)

This gene encodes a protein subunit of the GINS heterotetrameric complex, which is essential for the initiation of DNA replication and replisome progression in eukaryotes. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

GINS1 Gene

GINS complex subunit 1 (Psf1 homolog)

The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM, Mar 2008]

GINS4 Gene

GINS complex subunit 4 (Sld5 homolog)

The yeast heterotetrameric GINS complex is made up of Sld5, Psf1 (GINS1; MIM 610608), Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008]

AP3B1 Gene

adaptor-related protein complex 3, beta 1 subunit

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

AP3B2 Gene

adaptor-related protein complex 3, beta 2 subunit

Adaptor protein-3 (AP3) is a heterotetrameric vesicle-coat protein complex. Some AP3 subunits are ubiquitously expressed, whereas others are expressed exclusively in neurons. The neuron-specific AP3 complex, which includes AP3B2, is thought to serve neuron-specific functions such as neurotransmitter release (Grabner et al., 2006 [PubMed 16788073]).[supplied by OMIM, Mar 2008]

ARPC3 Gene

actin related protein 2/3 complex, subunit 3, 21kDa

This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been conserved through evolution and is implicated in the control of actin polymerization in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]

ARPC2 Gene

actin related protein 2/3 complex, subunit 2, 34kDa

This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

ARPC5 Gene

actin related protein 2/3 complex, subunit 5, 16kDa

This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

LOC102724998 Gene

set1/Ash2 histone methyltransferase complex subunit ASH2-like

COPA Gene

coatomer protein complex, subunit alpha

In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008]

COPE Gene

coatomer protein complex, subunit epsilon

The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

AP5M1 Gene

adaptor-related protein complex 5, mu 1 subunit

ARPC3P2 Gene

actin related protein 2/3 complex, subunit 3 pseudogene 2

ARPC3P3 Gene

actin related protein 2/3 complex, subunit 3 pseudogene 3

ARPC3P1 Gene

actin related protein 2/3 complex, subunit 3 pseudogene 1

ARPC3P5 Gene

actin related protein 2/3 complex, subunit 3 pseudogene 5

LOC101101841 Gene

mediator complex subunit 21 pseudogene

ANAPC15 Gene

anaphase promoting complex subunit 15

ANAPC16 Gene

anaphase promoting complex subunit 16

ANAPC11 Gene

anaphase promoting complex subunit 11

ANAPC10 Gene

anaphase promoting complex subunit 10

ANAPC10 is a core subunit of the anaphase-promoting complex (APC), or cyclosome, a ubiquitin protein ligase that is essential for progression through the cell cycle. APC initiates sister chromatid separation by ubiquitinating the anaphase inhibitor securin (PTTG1; MIM 604147) and triggers exit from mitosis by ubiquitinating cyclin B (CCNB1; MIM 123836), the activating subunit of cyclin-dependent kinase-1 (CDK1; MIM 116940) (summary by Wendt et al., 2001 [PubMed 11524682]).[supplied by OMIM, Feb 2011]

OSTC Gene

oligosaccharyltransferase complex subunit (non-catalytic)

LOC100131124 Gene

adaptor-related protein complex 4, sigma 1 subunit pseudogene

CNOT11 Gene

CCR4-NOT transcription complex, subunit 11

CNOT10 Gene

CCR4-NOT transcription complex, subunit 10

LOC204800 Gene

actin related protein 2/3 complex, subunit 1A, 41kDa pseudogene

SDHAP2 Gene

succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2

SDHAP3 Gene

succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3

SDHAP1 Gene

succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1

AP1G1 Gene

adaptor-related protein complex 1, gamma 1 subunit

Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

AP1G2 Gene

adaptor-related protein complex 1, gamma 2 subunit

Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is compsed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. Several alternatively spliced transcript variants of this gene exist, but their full-length nature is not known. [provided by RefSeq, Aug 2013]

XKRY Gene

XK, Kell blood group complex subunit-related, Y-linked

This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

XKRX Gene

XK, Kell blood group complex subunit-related, X-linked

This gene encodes a protein that is related to a component of the XK/Kell complex of the Kell blood group system. The encoded protein includes several transmembrane domains, is known to be exposed to the cell surface, and may function as a membrane transporter. [provided by RefSeq, May 2010]

LOC252862 Gene

CDC26 subunit of anaphase promoting complex-related gene

XKR5 Gene

XK, Kell blood group complex subunit-related family, member 5

XKR4 Gene

XK, Kell blood group complex subunit-related family, member 4

XKR7 Gene

XK, Kell blood group complex subunit-related family, member 7

XKR6 Gene

XK, Kell blood group complex subunit-related family, member 6

XKR3 Gene

XK, Kell blood group complex subunit-related family, member 3

XKRX (MIM 300684) and XKR3 are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM, Mar 2008]

LOC401602 Gene

adaptor-related protein complex 2, beta 1 subunit pseudogene

LOC645388 Gene

adaptor-related protein complex 1, mu 2 subunit pseudogene

LOC101928722 Gene

nascent polypeptide-associated complex subunit alpha, muscle-specific form-like

MED26 Gene

mediator complex subunit 26

The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]

BLOC1S2P1 Gene

biogenesis of lysosomal organelles complex-1, subunit 2 pseudogene 1

SPCS1 Gene

signal peptidase complex subunit 1 homolog (S. cerevisiae)

SPCS2 Gene

signal peptidase complex subunit 2 homolog (S. cerevisiae)

SPCS3 Gene

signal peptidase complex subunit 3 homolog (S. cerevisiae)

LOC100421655 Gene

adaptor-related protein complex 3, mu 2 subunit pseudogene

ANAPC10P1 Gene

anaphase promoting complex subunit 10 pseudogene 1

MED6P1 Gene

mediator complex subunit 6 pseudogene 1

RIIAD1 Gene

regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1

LOC102725016 Gene

serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta

LOC102724991 Gene

serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta

ITGA2B Gene

integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)

ITGA2B encodes integrin alpha chain 2b. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. Alpha chain 2b undergoes post-translational cleavage to yield disulfide-linked light and heavy chains that join with beta 3 to form a fibronectin receptor expressed in platelets that plays a crucial role in coagulation. Mutations that interfere with this role result in thrombasthenia. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. [provided by RefSeq, Jul 2008]

TRAPPC6A Gene

trafficking protein particle complex 6A

This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein may be involved in melanosome biogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

TRAPPC6B Gene

trafficking protein particle complex 6B

TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).[supplied by OMIM, Mar 2008]

HLA-DQB1 Gene

major histocompatibility complex, class II, DQ beta 1

HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

HLA-DQB3 Gene

major histocompatibility complex, class II, DQ beta 3

HLA-DQB2 Gene

major histocompatibility complex, class II, DQ beta 2

HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). Polymorphisms in the alpha and beta chains specify the peptide binding specificity, and typing for these polymorphisms is routinely done for bone marrow transplantation. However this gene, HLA-DQB2, is not routinely typed, as it is not thought to have an effect on transplantation. There is conflicting evidence in the literature and public sequence databases for the protein-coding capacity of HLA-DQB2. Because there is evidence of transcription and an intact ORF, HLA-DQB2 is represented in Entrez Gene and in RefSeq as a protein-coding locus. [provided by RefSeq, Oct 2010]

LY6G6C Gene

lymphocyte antigen 6 complex, locus G6C

LY6G6C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]

LY6G6E Gene

lymphocyte antigen 6 complex, locus G6E (pseudogene)

LY6G6E belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]

ATP5C1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008]

SYCE1 Gene

synaptonemal complex central element protein 1

TCP1P1 Gene

t-complex 1 pseudogene 1

TCP1P2 Gene

t-complex 1 pseudogene 2

TCP1P3 Gene

t-complex 1 pseudogene 3

HLA-DMB Gene

major histocompatibility complex, class II, DM beta

HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP (class II-associated invariant chain peptide) molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]

HLA-K Gene

major histocompatibility complex, class I, K (pseudogene)

HLA-J Gene

major histocompatibility complex, class I, J (pseudogene)

This major histocompatibility complex gene represents a transcribed pseudogene, possibly derived from HLA-A. [provided by RefSeq, May 2010]

HLA-L Gene

major histocompatibility complex, class I, L (pseudogene)

HLA-B Gene

major histocompatibility complex, class I, B

HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]

HLA-A Gene

major histocompatibility complex, class I, A

HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]

HLA-G Gene

major histocompatibility complex, class I, G

HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]

HLA-F Gene

major histocompatibility complex, class I, F

This gene belongs to the HLA class I heavy chain paralogues. It encodes a non-classical heavy chain that forms a heterodimer with a beta-2 microglobulin light chain, with the heavy chain anchored in the membrane. Unlike most other HLA heavy chains, this molecule is localized in the endoplasmic reticulum and Golgi apparatus, with a small amount present at the cell surface in some cell types. It contains a divergent peptide-binding groove, and is thought to bind a restricted subset of peptides for immune presentation. This gene exhibits few polymorphisms. Multiple transcript variants encoding different isoforms have been found for this gene. These variants lack a coding exon found in transcripts from other HLA paralogues due to an altered splice acceptor site, resulting in a shorter cytoplasmic domain. [provided by RefSeq, Jul 2008]

SCHLAP1 Gene

SWI/SNF complex antagonist associated with prostate cancer 1 (non-protein coding)

LY6G6D Gene

lymphocyte antigen 6 complex, locus G6D

LY6G6D belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Apr 2009]

HCG18 Gene

HLA complex group 18 (non-protein coding)

HCG4P11 Gene

HLA complex group 4 pseudogene 11

HLA-DOA Gene

major histocompatibility complex, class II, DO alpha

HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008]

HLA-DOB Gene

major histocompatibility complex, class II, DO beta

HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]

HLA-DQA1 Gene

major histocompatibility complex, class II, DQ alpha 1

HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq, Jul 2008]

HLA-DQA2 Gene

major histocompatibility complex, class II, DQ alpha 2

This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010]

PDHX Gene

pyruvate dehydrogenase complex, component X

The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]

TRAPPC9 Gene

trafficking protein particle complex 9

This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive mental retardation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

TRAPPC8 Gene

trafficking protein particle complex 8

TRAPPC1 Gene

trafficking protein particle complex 1

This gene product plays a role in vesicular transport of proteins to the Golgi apparatus from the endoplasmic reticulum. The encoded protein is a component of the multisubunit transport protein particle (TRAPP) complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

TRAPPC3 Gene

trafficking protein particle complex 3

This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. The encoded protein participates in the regulation of transport from the endoplasmic reticulum to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

TRAPPC2 Gene

trafficking protein particle complex 2

The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]

TRAPPC5 Gene

trafficking protein particle complex 5

TRAPPC4 Gene

trafficking protein particle complex 4

RICTOR Gene

RPTOR independent companion of MTOR, complex 2

RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM, Mar 2008]

LOC646709 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 pseudogene

TRAPPC2P5 Gene

trafficking protein particle complex 2 pseudogene 5

TRAPPC2P4 Gene

trafficking protein particle complex 2 pseudogene 4

TRAPPC2P7 Gene

trafficking protein particle complex 2 pseudogene 7

TRAPPC2P6 Gene

trafficking protein particle complex 2 pseudogene 6

TRAPPC2P3 Gene

trafficking protein particle complex 2 pseudogene 3

TRAPPC2P2 Gene

trafficking protein particle complex 2 pseudogene 2

TRAPPC2P9 Gene

trafficking protein particle complex 2 pseudogene 9

TRAPPC2P8 Gene

trafficking protein particle complex 2 pseudogene 8

CTC1 Gene

CTS telomere maintenance complex component 1

This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]

TCP10L Gene

t-complex 10-like

HCG4 Gene

HLA complex group 4 (non-protein coding)

HCG9 Gene

HLA complex group 9 (non-protein coding)

This gene lies within the MHC class I region on chromosome 6p21.3. This gene is believed to be non-coding, but its function has not been determined. [provided by RefSeq, Jul 2009]

ATP5BP1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide pseudogene 1

SNAPC3 Gene

small nuclear RNA activating complex, polypeptide 3, 50kDa

SNAPC2 Gene

small nuclear RNA activating complex, polypeptide 2, 45kDa

This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

SNAPC1 Gene

small nuclear RNA activating complex, polypeptide 1, 43kDa

SNAPC5 Gene

small nuclear RNA activating complex, polypeptide 5, 19kDa

SNAPC4 Gene

small nuclear RNA activating complex, polypeptide 4, 190kDa

CHRAC1 Gene

chromatin accessibility complex 1

CHRAC1 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]

LOC390846 Gene

golgi SNAP receptor complex member 2 pseudogene

TCP11X1 Gene

t-complex 11 family, X-linked 1

TCP11X2 Gene

t-complex 11 family, X-linked 2

HCG25 Gene

HLA complex group 25 (non-protein coding)

HCG27 Gene

HLA complex group 27 (non-protein coding)

MCM8 Gene

minichromosome maintenance complex component 8

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]

IKBKAP Gene

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein

The protein encoded by this gene is a scaffold protein and a regulator for 3 different kinases involved in proinflammatory signaling. This encoded protein can bind NF-kappa-B-inducing kinase (NIK) and IKKs through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. [provided by RefSeq, Jul 2008]

GCOM2 Gene

GRINL1B complex locus 2, pseudogene

GCOM1 Gene

GRINL1A complex locus 1

This locus represents naturally occurring readthrough transcription between the neighboring MYZAP (myocardial zonula adherens protein) and POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) genes on chromosome 15. Alternative splicing results in multiple readthrough transcript variants. Readthrough variants may encode proteins that share sequence identity with the upstream gene product or with both the upstream and downstream gene products. Some readthrough transcript variants are also expected to be candidates for nonsense-mediated decay (NMD). [provided by RefSeq, Oct 2013]

HCG21 Gene

HLA complex group 21 (non-protein coding)

HCG20 Gene

HLA complex group 20 (non-protein coding)

HCG23 Gene

HLA complex group 23 (non-protein coding)

HCG22 Gene

HLA complex group 22

DSN1 Gene

DSN1, MIS12 kinetochore complex component

This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]

NPIPP1 Gene

nuclear pore complex interacting protein pseudogene 1

NPIP Gene

nuclear pore complex interacting protein family, member A1 pseudogene

TRAPPC11 Gene

trafficking protein particle complex 11

The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]

TRAPPC10 Gene

trafficking protein particle complex 10

The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]

TRAPPC13 Gene

trafficking protein particle complex 13

TRAPPC12 Gene

trafficking protein particle complex 12

NSL1 Gene

NSL1, MIS12 kinetochore complex component

This gene encodes a protein with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during cell division. The encoded protein is part of a conserved protein complex that includes two chromodomain-containing proteins and a component of the outer plate of the kinetochore. This protein complex is proposed to bridge centromeric heterochromatin with the outer kinetochore structure. Multiple transcript variants encoding different isoforms have been found for this gene. There is a pseudogene of the 3' UTR region of this gene on chromosome X. [provided by RefSeq, Jul 2014]

LEO1 Gene

Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)

LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008]

MR1 Gene

major histocompatibility complex, class I-related

MECOM Gene

MDS1 and EVI1 complex locus

The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

SNAPC5P1 Gene

small nuclear RNA activating complex, polypeptide 5, 19kDa pseudogene 1

HCG9P5 Gene

HLA complex group 9 pseudogene 5

HCG9P3 Gene

HLA complex group 9 pseudogene 3

HCG9P2 Gene

HLA complex group 9 pseudogene 2

NPIPB15 Gene

nuclear pore complex interacting protein family, member B15

ATP5B Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]

BABAM1 Gene

BRISC and BRCA1 A complex member 1

LOC727681 Gene

NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) pseudogene

3.8-1.4 Gene

HLA complex group 26 (non-protein coding) pseudogene

3.8-1.5 Gene

HLA complex group 26 (non-protein coding) pseudogene

3.8-1.2 Gene

HLA complex group 26 (non-protein coding) pseudogene

ATP5C1P1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 pseudogene 1

LOC727919 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 pseudogene

LOC440353 Gene

nuclear pore complex interacting protein family, member A1 pseudogene

NOC2L Gene

nucleolar complex associated 2 homolog (S. cerevisiae)

Histone modification by histone acetyltransferases (HAT) and histone deacetylases (HDAC) can control major aspects of transcriptional regulation. NOC2L represents a novel HDAC-independent inhibitor of histone acetyltransferase (INHAT) (Hublitz et al., 2005 [PubMed 16322561]).[supplied by OMIM, Mar 2008]

HLA-H Gene

major histocompatibility complex, class I, H (pseudogene)

This major histocompatibility complex gene represents a transcribed pseudogene, possibly derived from HLA-A. This gene displays extensive variation. [provided by RefSeq, May 2010]

HLA-N Gene

major histocompatibility complex, class I, N (pseudogene)

HLA-C Gene

major histocompatibility complex, class I, C

HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008]

HLA-E Gene

major histocompatibility complex, class I, E

HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. [provided by RefSeq, Jul 2008]

HLA-Z Gene

major histocompatibility complex, class I, Z (pseudogene)

HLA-Y Gene

major histocompatibility complex, class I, Y (pseudogene)

HLA-X Gene

major histocompatibility complex, class I, X (pseudogene)

HLA-S Gene

major histocompatibility complex, class I, S (pseudogene)

HLA-P Gene

major histocompatibility complex, class I, P (pseudogene)

HLA-W Gene

major histocompatibility complex, class I, W (pseudogene)

HLA-V Gene

major histocompatibility complex, class I, V (pseudogene)

HLA-U Gene

major histocompatibility complex, class I, U (pseudogene)

HLA-T Gene

major histocompatibility complex, class I, T (pseudogene)

LOC101060346 Gene

T-complex protein 11 X-linked protein 2-like

TRAPPC2L Gene

trafficking protein particle complex 2-like

TRAPPC2B Gene

trafficking protein particle complex 2B

This gene has been described as a transcribed retropseudogene (or retro-xaptonuon) based on its structure which lacks most of the introns of SEDL and the detection of transcripts from this locus. Most retropseudogenes are thought to not express protein products. A protein product could potentially be encoded by this retropseudogene that would be identical to the protein product of the SEDL gene. However, it remains unclear whether this gene encodes a protein product or is a transcribed retropseudogene. [provided by RefSeq, Jul 2008]

NUF2 Gene

NUF2, NDC80 kinetochore complex component

This gene encodes a protein that is highly similar to yeast Nuf2, a component of a conserved protein complex associated with the centromere. Yeast Nuf2 disappears from the centromere during meiotic prophase when centromeres lose their connection to the spindle pole body, and plays a regulatory role in chromosome segregation. The encoded protein is found to be associated with centromeres of mitotic HeLa cells, which suggests that this protein is a functional homolog of yeast Nuf2. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]

EXOC6B Gene

exocyst complex component 6B

In yeast and rat, Sec15 is part of a multiprotein complex that is required for targeted exocytosis.[supplied by OMIM, Apr 2004]

NDUFAF5 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 5

The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

NDUFAF4 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 4

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]

NDUFAF7 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 7

NDUFAF6 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 6

This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]

NDUFAF1 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 1

This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]

NDUFAF3 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 3

This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]

NDUFAF2 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 2

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]

HLA-DMA Gene

major histocompatibility complex, class II, DM alpha

HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008]

LY6G5C Gene

lymphocyte antigen 6 complex, locus G5C

LY6G5C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]

LY6G5B Gene

lymphocyte antigen 6 complex, locus G5B

LY6G5B belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]

MIS12 Gene

MIS12 kinetochore complex component

LIN54 Gene

lin-54 DREAM MuvB core complex component

LIN54 is a component of the LIN, or DREAM, complex, an essential regulator of cell cycle genes (Schmit et al., 2009 [PubMed 19725879]).[supplied by OMIM, Dec 2010]

LIN52 Gene

lin-52 DREAM MuvB core complex component

NPIPB5 Gene

nuclear pore complex interacting protein family, member B5

LOC613037 Gene

nuclear pore complex interacting protein pseudogene

NELFB Gene

negative elongation factor complex member B

NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008]

NELFA Gene

negative elongation factor complex member A

This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008]

NELFE Gene

negative elongation factor complex member E

The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. [provided by RefSeq, Jul 2008]

HCG4P1 Gene

HLA complex group 4 pseudogene 1

HCG4P2 Gene

HLA complex group 4 pseudogene 2

HCG4P3 Gene

HLA complex group 4 pseudogene 3

HCG4P4 Gene

HLA complex group 4 pseudogene 4

HCG4P5 Gene

HLA complex group 4 pseudogene 5

HCG4P7 Gene

HLA complex group 4 pseudogene 7

HCG4P8 Gene

HLA complex group 4 pseudogene 8

HCG4P9 Gene

HLA complex group 4 pseudogene 9

CD3D Gene

CD3d molecule, delta (CD3-TCR complex)

The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq, Feb 2009]

CD3E Gene

CD3e molecule, epsilon (CD3-TCR complex)

The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008]

CD3G Gene

CD3g molecule, gamma (CD3-TCR complex)

The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008]

HCG24 Gene

HLA complex group 24 (non-protein coding)

HCG26 Gene

HLA complex group 26 (non-protein coding)

CNC2 Gene

Carney complex type 2, multiple neoplasia and lentiginosis

EXOC2 Gene

exocyst complex component 2

The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

EXOC3 Gene

exocyst complex component 3

The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]

EXOC1 Gene

exocyst complex component 1

The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

EXOC6 Gene

exocyst complex component 6

The product of this gene belongs to the SEC15 family. It is highly similar to the protein encoded by Saccharomyces cerevisiae SEC15 gene. This protein is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

EXOC7 Gene

exocyst complex component 7

The protein encoded by this gene is a component of the exocyst complex. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required for assembly of the exocyst complex and docking of the complex to the plasma membrane. The encoded protein may also play a role in pre-mRNA splicing through interactions with pre-mRNA-processing factor 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Nov 2011]

EXOC4 Gene

exocyst complex component 4

The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

EXOC5 Gene

exocyst complex component 5

The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]

EXOC8 Gene

exocyst complex component 8

MCMBP Gene

minichromosome maintenance complex binding protein

This gene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which regulates initiation and elongation of DNA. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

DGS2 Gene

DiGeorge syndrome/velocardiofacial syndrome complex 2

HLA-DPA1 Gene

major histocompatibility complex, class II, DP alpha 1

HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]

HLA-DPA3 Gene

major histocompatibility complex, class II, DP alpha 3 (pseudogene)

HLA-DPA2 Gene

major histocompatibility complex, class II, DP alpha 2 (pseudogene)

LOC101060275 Gene

nuclear pore complex-interacting protein family member B4-like

HLA-DRB8 Gene

major histocompatibility complex, class II, DR beta 8 (pseudogene)

HLA-DRB9 Gene

major histocompatibility complex, class II, DR beta 9 (pseudogene)

HLA-DRB2 Gene

major histocompatibility complex, class II, DR beta 2 (pseudogene)

HLA-DRB3 Gene

major histocompatibility complex, class II, DR beta 3

HLA-DRB3 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB3 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]

HLA-DRB1 Gene

major histocompatibility complex, class II, DR beta 1

HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]

HLA-DRB6 Gene

major histocompatibility complex, class II, DR beta 6 (pseudogene)

HLA-DRB7 Gene

major histocompatibility complex, class II, DR beta 7 (pseudogene)

HLA-DRB4 Gene

major histocompatibility complex, class II, DR beta 4

HLA-DRB4 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB4 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]

HLA-DRB5 Gene

major histocompatibility complex, class II, DR beta 5

HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB5 is linked with allelic variants of DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]

LOC100420746 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 pseudogene

SPEG Gene

SPEG complex locus

This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Studies in mouse have determined that a lack of this protein affected myocardial development. Multiple alternatively spliced transcript variants have been reported for this gene, but the full-length nature of only two variants that encode different protein isoforms has been defined. [provided by RefSeq, Mar 2010]

GNAS Gene

GNAS complex locus

This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]

NPIPA8 Gene

nuclear pore complex interacting protein family, member A8

NPIPA5 Gene

nuclear pore complex interacting protein family, member A5

NPIPA7 Gene

nuclear pore complex interacting protein family, member A7

NPIPA1 Gene

nuclear pore complex interacting protein family, member A1

NPIPA2 Gene

nuclear pore complex interacting protein family, member A2

NPIPA3 Gene

nuclear pore complex interacting protein family, member A3

TCP11 Gene

t-complex 11, testis-specific

TCP10 Gene

t-complex 10

SYCE3 Gene

synaptonemal complex central element protein 3

HCG15 Gene

HLA complex group 15 (non-protein coding)

HCG11 Gene

HLA complex group 11 (non-protein coding)

NOC4L Gene

nucleolar complex associated 4 homolog (S. cerevisiae)

KHDC3L Gene

KH domain containing 3-like, subcortical maternal complex member

The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. [provided by RefSeq, Dec 2011]

CD74 Gene

CD74 molecule, major histocompatibility complex, class II invariant chain

The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

EXOC7P1 Gene

exocyst complex component 7 pseudogene 1

HCG19P Gene

HLA complex group 19 pseudogene

LY6G6F Gene

lymphocyte antigen 6 complex, locus G6F

The human G6f protein is a type I transmembrane protein belonging to the immunoglobin (Ig) superfamily, which is comprised of cell-surface proteins involved in the immune system and cellular recognition (de Vet et al., 2003 [PubMed 12852788]).[supplied by OMIM, Mar 2008]

NDUFA4 Gene

NDUFA4, mitochondrial complex associated

The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]

SYCE2 Gene

synaptonemal complex central element protein 2

The protein encoded by this gene is part of the synaptonemal complex formed between homologous chromosomes during meiotic prophase. The encoded protein associates with SYCP1 and SYCE1 and is found only where chromosome cores are synapsed. [provided by RefSeq, Dec 2012]

ARPIN Gene

actin-related protein 2/3 complex inhibitor

LOC100130783 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 pseudogene

LOC401010 Gene

nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene

GOSR2 Gene

golgi SNAP receptor complex member 2

This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CIITA Gene

class II, major histocompatibility complex, transactivator

This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the "master control factor" for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

HLA-DPB1 Gene

major histocompatibility complex, class II, DP beta 1

HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]

HLA-DPB2 Gene

major histocompatibility complex, class II, DP beta 2 (pseudogene)

UGT1A Gene

UDP glucuronosyltransferase 1 family, polypeptide A complex locus

This RefSeq represents a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. [provided by RefSeq, Jul 2008]

LOC100130270 Gene

NDUFA4, mitochondrial complex associated pseudogene

LIN37 Gene

lin-37 DREAM MuvB core complex component

This gene encodes a protein expressed in the eye. [provided by RefSeq, Jul 2008]

TCP1 Gene

t-complex 1

The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, three pseudogenes that appear to be derived from this gene have been found. [provided by RefSeq, Jun 2010]

SYCP3 Gene

synaptonemal complex protein 3

This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility to pregnancy loss in females. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2010]

LOC105369271 Gene

nuclear pore complex-interacting protein family member B7-like

LOC100289568 Gene

UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus pseudogene

ATPAF2 Gene

ATP synthase mitochondrial F1 complex assembly factor 2

This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]

ATPAF1 Gene

ATP synthase mitochondrial F1 complex assembly factor 1

This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]

MCM7 Gene

minichromosome maintenance complex component 7

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 6 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. Cyclin D1-dependent kinase, CDK4, is found to associate with this protein, and may regulate the binding of this protein with the tumorsuppressor protein RB1/RB. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

MCM6 Gene

minichromosome maintenance complex component 6

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012]

MCM5 Gene

minichromosome maintenance complex component 5

The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S phase of the cell cycle and may actively participate in cell cycle regulation. [provided by RefSeq, Jul 2008]

MCM4 Gene

minichromosome maintenance complex component 4

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]

MCM2 Gene

minichromosome maintenance complex component 2

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Oct 2012]

DUSP11 Gene

dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)

The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is localized to the nucleus and binds directly to RNA and splicing factors, and thus it is suggested to participate in nuclear mRNA metabolism. [provided by RefSeq, Sep 2008]

MCM9 Gene

minichromosome maintenance complex component 9

The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]

HCG9P1 Gene

HLA complex group 9 pseudogene 1

AIMP1P1 Gene

aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 1

AIMP1P2 Gene

aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 2

LOC100421462 Gene

trafficking protein particle complex 2-like pseudogene

RPTOR Gene

regulatory associated protein of MTOR, complex 1

This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

LOC391707 Gene

chromatin accessibility complex 1 pseudogene

NDUFAF4P4 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 4

NDUFAF4P3 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 3

NDUFAF4P2 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 2

NDUFAF4P1 Gene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 1

TRAPPC13P1 Gene

trafficking protein particle complex 13 pseudogene 1

MOV10 Gene

Mov10 RISC complex RNA helicase

SYCP2L Gene

synaptonemal complex protein 2-like

LOC643276 Gene

nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene

LOC100420902 Gene

exocyst complex component 3-like 4 pseudogene

CTR9 Gene

CTR9, Paf1/RNA polymerase II complex component

CTR9, parafibromin (CDC73; MIM 607393), LEO1 (MIM 610507), and PAF1 (MIM 610506) form the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008]

TRAPPC2P10 Gene

trafficking protein particle complex 2 pseudogene 10

SDHAF1 Gene

succinate dehydrogenase complex assembly factor 1

The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).[provided by RefSeq, Mar 2010]

SDHAF2 Gene

succinate dehydrogenase complex assembly factor 2

This gene encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Mutations in this gene are associated with paraganglioma.[provided by RefSeq, Jul 2010]

SDHAF3 Gene

succinate dehydrogenase complex assembly factor 3

SDHAF4 Gene

succinate dehydrogenase complex assembly factor 4

LOC105369248 Gene

nuclear pore complex-interacting protein family member B5-like

NACAP1 Gene

nascent-polypeptide-associated complex alpha polypeptide pseudogene 1

NACAP3 Gene

nascent-polypeptide-associated complex alpha polypeptide pseudogene 3

NACAP2 Gene

nascent-polypeptide-associated complex alpha polypeptide pseudogene 2

NACAP5 Gene

nascent-polypeptide-associated complex alpha polypeptide pseudogene 5

NACAP4 Gene

nascent-polypeptide-associated complex alpha polypeptide pseudogene 4

NACAP7 Gene

nascent-polypeptide-associated complex alpha polypeptide pseudogene 7

NACAP6 Gene

nascent-polypeptide-associated complex alpha polypeptide pseudogene 6

LOC100418617 Gene

major histocompatibility complex, class I, B pseudogene

MCM10 Gene

minichromosome maintenance complex component 10

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre-RC) and it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

MR1P1 Gene

major histocompatibility complex, class I-related pseudogene

GOSR1 Gene

golgi SNAP receptor complex member 1

This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

TCP11L1 Gene

t-complex 11, testis-specific-like 1

TCP11L2 Gene

t-complex 11, testis-specific-like 2

SYCP2 Gene

synaptonemal complex protein 2

The synaptonemal complex is a proteinaceous structure that links homologous chromosomes during the prophase of meiosis. The protein encoded by this gene is a major component of the synaptonemal complex and may bind DNA at scaffold attachment regions. The encoded protein requires synaptonemal complex protein 3, but not 1, for inclusion in the synaptonemal complex. [provided by RefSeq, Jul 2008]

SYCP1 Gene

synaptonemal complex protein 1

HCG16 Gene

HLA complex group 16 (non-protein coding)

PCDHA@ Gene

protocadherin alpha cluster, complex locus

The protocadherin alpha gene cluster is one of three related clusters tandemly linked on chromosome five. The clusters have a genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 genes and 1 pseudogene, which are members of the cadherin superfamily and related to the mouse CNR genes. The sequence of the 13 upstream genes and the pseudogene are highly similar to one another, while a subfamily (C) contains two more distantly related coding sequences. The alpha cluster genes are organized in a tandem array of 15 large, variable region exons followed by a constant region, which contains 3 exons shared by all genes in the cluster. Each variable region exon encodes an extracellular domain comprised of 6 cadherin ectodomains and a transmembrane region. The constant region exons encode a common cytoplasmic tail. These neural adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the alpha cluster genes. [provided by RefSeq, Jul 2008]

HCG14 Gene

HLA complex group 14 (non-protein coding)

HCG17 Gene

HLA complex group 17 (non-protein coding)

UQCC1 Gene

ubiquinol-cytochrome c reductase complex assembly factor 1

This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

UQCC3 Gene

ubiquinol-cytochrome c reductase complex assembly factor 3

Complex III is a mitochondrial inner membrane protein complex that transfers electrons from ubiquinol to cytochrome c. This gene encodes a protein that functions in complex III assembly. Mutations in this gene result in Mitochondrial complex III deficiency, nuclear type 9. [provided by RefSeq, Dec 2014]

UQCC2 Gene

ubiquinol-cytochrome c reductase complex assembly factor 2

This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012]

NPIPB9 Gene

nuclear pore complex interacting protein family, member B9

LOC100422556 Gene

Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) pseudogene

HLA-DRA Gene

major histocompatibility complex, class II, DR alpha

HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Jul 2008]

RTF1 Gene

Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)

This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based on studies of similar proteins in other organisms. The encoded protein may bind single-stranded DNA. [provided by RefSeq, Sep 2010]

COG8 Gene

component of oligomeric golgi complex 8

This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]

COG3 Gene

component of oligomeric golgi complex 3

This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011]

COG2 Gene

component of oligomeric golgi complex 2

This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]

COG1 Gene

component of oligomeric golgi complex 1

The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]

COG7 Gene

component of oligomeric golgi complex 7

The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010]

COG6 Gene

component of oligomeric golgi complex 6

This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]

COG5 Gene

component of oligomeric golgi complex 5

The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]

COG4 Gene

component of oligomeric golgi complex 4

The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]

LOC100129130 Gene

THO complex 4 pseudogene

NELFCD Gene

negative elongation factor complex member C/D

The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [provided by RefSeq, Jul 2008]

EXOC3L4 Gene

exocyst complex component 3-like 4

EXOC3L2 Gene

exocyst complex component 3-like 2

EXOC3L1 Gene

exocyst complex component 3-like 1

HCG13P Gene

HLA complex group 13 pseudogene

EXOC5P1 Gene

exocyst complex component 5 pseudogene 1

SYCE1L Gene

synaptonemal complex central element protein 1-like

THOC3 Gene

THO complex 3

This gene encodes a component of the nuclear THO transcription elongation complex, which is part of the larger transcription export (TREX) complex that couples messenger RNA processing and export. In humans, the transcription export complex is recruited to the 5'-end of messenger RNAs in a splicing- and cap-dependent manner. Studies of a related complex in mouse suggest that the metazoan transcription export complex is involved in cell differentiation and development. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, May 2013]

THOC2 Gene

THO complex 2

The TREX multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. The protein encoded by this gene is a member of the THO complex, a subset of the TREX complex. The encoded protein interacts with the THOC1 protein.[provided by RefSeq, Jun 2010]

THOC1 Gene

THO complex 1

HPR1 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), THO2 (MIM 300395), ALY (MIM 604171), and UAP56 (MIM 142560).[supplied by OMIM, Nov 2010]

THOC7 Gene

THO complex 7

THOC6 Gene

THO complex 6

THOC5 Gene

THO complex 5

NPIPB11 Gene

nuclear pore complex interacting protein family, member B11

NPIPB1P Gene

nuclear pore complex interacting protein family, member B1, pseudogene

HCP5B Gene

HLA complex P5B (non-protein coding)

TCTE3 Gene

t-complex-associated-testis-expressed 3

TCTE1 Gene

t-complex-associated-testis-expressed 1

VCPIP1 Gene

valosin containing protein (p97)/p47 complex interacting protein 1

NPIPB3 Gene

nuclear pore complex interacting protein family, member B3

NPIPB4 Gene

nuclear pore complex interacting protein family, member B4

NPIPB7 Gene

nuclear pore complex interacting protein family, member B7

NPIPB6 Gene

nuclear pore complex interacting protein family, member B6

NPIPB8 Gene

nuclear pore complex interacting protein family, member B8

LOC100533936 Gene

major histocompatibility complex, class I, B pseudogene

MOV10L1 Gene

Mov10 RISC complex RNA helicase like 1

This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

UGT2A1 Gene

UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus

The protein encoded by this gene belongs to the UDP-glycosyltransferase family, members of which catalyze biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. This gene shares exon structure with the UDP glucuronosyltransferase 2A2 family member, which encodes N-terminally distinct isoforms. [provided by RefSeq, Jul 2014]

MCM3 Gene

minichromosome maintenance complex component 3

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein is a subunit of the protein complex that consists of MCM2-7. It has been shown to interact directly with MCM5/CDC46. This protein also interacts with and is acetylated by MCM3AP, a chromatin-associated acetyltransferase. The acetylation of this protein inhibits the initiation of DNA replication and cell cycle progression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]

AIMP2 Gene

aminoacyl tRNA synthetase complex-interacting multifunctional protein 2

The JTV1 gene is located on chromosome 7p22 flanked by two genes, HRI and PMS2. JTV1 and HRI overlap slightly and are arranged in a tail-to-tail fashion. JTV1 and PMS2 are separated by approximately 200 base pairs and are arranged head-to-head. JTV1 is transcribed in the opposite direction compared to HRI and PMS2. The function of the JTV1 gene product is unknown. [provided by RefSeq, Jul 2008]

AIMP1 Gene

aminoacyl tRNA synthetase complex-interacting multifunctional protein 1

The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008]

LOC102725157 Gene

nuclear pore complex-interacting protein family member B5-like

SPC25 Gene

SPC25, NDC80 kinetochore complex component

This gene encodes a protein that may be involved in kinetochore-microtubule interaction and spindle checkpoint activity. [provided by RefSeq, Jul 2008]

SPC24 Gene

SPC24, NDC80 kinetochore complex component

LY6E Gene

lymphocyte antigen 6 complex, locus E

LY6D Gene

lymphocyte antigen 6 complex, locus D

LY6K Gene

lymphocyte antigen 6 complex, locus K

LY6H Gene

lymphocyte antigen 6 complex, locus H

TCP10L2 Gene

t-complex 10-like 2

NDC80 Gene

NDC80 kinetochore complex component

This gene encodes a component of the NDC80 kinetochore complex. The encoded protein consists of an N-terminal microtubule binding domain and a C-terminal coiled-coiled domain that interacts with other components of the complex. This protein functions to organize and stabilize microtubule-kinetochore interactions and is required for proper chromosome segregation. [provided by RefSeq, Oct 2011]

DLST Gene

dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)

This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]

HCP5 Gene

HLA complex P5 (non-protein coding)

MCM3AP Gene

minichromosome maintenance complex component 3 associated protein

The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. This gene is expressed in the brain or in neuronal tissue. An allelic variant encoding amino acid Lys at 915, instead of conserved Glu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014]

LOC644145 Gene

exocyst complex component 1 pseudogene

AP1AR Gene

adaptor-related protein complex 1 associated regulatory protein

LOC100421179 Gene

component of oligomeric golgi complex 1 pseudogene

3.8-1.3 Gene

HLA complex group 26 (non-protein coding) pseudogene

NOC3L Gene

nucleolar complex associated 3 homolog (S. cerevisiae)

RIC1 Gene

RAB6A GEF complex partner 1

LOC100287498 Gene

NDUFA4, mitochondrial complex associated pseudogene

LOC100422671 Gene

cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) pseudogene

LIN9 Gene

lin-9 DREAM MuvB core complex component

This gene encodes a tumor suppressor protein that inhibits DNA synthesis and oncogenic transformation through association with the retinoblastoma 1 protein. The encoded protein also interacts with a complex of other cell cycle regulators to repress cell cycle-dependent gene expression in non-dividing cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

LOC729978 Gene

nuclear pore complex interacting protein pseudogene

HCG4B Gene

HLA complex group 4B (non-protein coding)

LOC728554 Gene

THO complex 3 pseudogene

TRAPPC3L Gene

trafficking protein particle complex 3-like

PACERR Gene

PTGS2 antisense NFKB1 complex-mediated expression regulator RNA

This gene represents transcription of a long non-coding RNA produced in antisense to the prostaglandin-endoperoxide synthase 2 (PTGS2) gene. This transcript interacts with NF-kB transcriptional regulators to promote expression of PTGS2. [provided by RefSeq, Feb 2015]

HCG8 Gene

HLA complex group 8

TUBGCP2 Gene

tubulin, gamma complex associated protein 2

TUBGCP3 Gene

tubulin, gamma complex associated protein 3

TUBGCP4 Gene

tubulin, gamma complex associated protein 4

This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]

TUBGCP5 Gene

tubulin, gamma complex associated protein 5

TUBGCP6 Gene

tubulin, gamma complex associated protein 6

The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]

LOC105371186 Gene

nuclear pore complex-interacting protein family member A5-like

LOC105371189 Gene

nuclear pore complex-interacting protein family member B9-like

ITGA2 Gene

integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)

This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

ITGA3 Gene

integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)

The protein encoded by this gene belongs to the family of integrins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain, and function as cell surface adhesion molecules. This gene encodes alpha 3 subunit, which undergoes post-translational cleavage in the extracellular domain to yield disulfide-linked light and heavy chains that join with beta 1 subunit to form an integrin that interacts with many extracellular-matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]

ITGA4 Gene

integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)

The product of this gene belongs to the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an alpha 4 chain. Unlike other integrin alpha chains, alpha 4 neither contains an I-domain, nor undergoes disulfide-linked cleavage. Alpha 4 chain associates with either beta 1 chain or beta 7 chain. [provided by RefSeq, Jul 2008]

ITGAX Gene

integrin, alpha X (complement component 3 receptor 4 subunit)

This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

ITGAM Gene

integrin, alpha M (complement component 3 receptor 3 subunit)

This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

LOC101928952 Gene

serine palmitoyltransferase small subunit A pseudogene

CKS1B Gene

CDC28 protein kinase regulatory subunit 1B

CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a protein. [provided by RefSeq, Sep 2008]

EIF3EP3 Gene

eukaryotic translation initiation factor 3, subunit E pseudogene 3

EIF3EP2 Gene

eukaryotic translation initiation factor 3, subunit E pseudogene 2

EIF3EP1 Gene

eukaryotic translation initiation factor 3, subunit E pseudogene 1

PPP1R1AP2 Gene

protein phosphatase 1, regulatory (inhibitor) subunit 1A pseudogene 2

COX4I1P1 Gene

cytochrome c oxidase subunit IV isoform 1 pseudogene 1

COX4I1P2 Gene

cytochrome c oxidase subunit IV isoform 1 pseudogene 2

SEC61A1 Gene

Sec61 alpha 1 subunit (S. cerevisiae)

The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]

SEC61A2 Gene

Sec61 alpha 2 subunit (S. cerevisiae)

The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

RAB3GAP2 Gene

RAB3 GTPase activating protein subunit 2 (non-catalytic)

The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]

RAB3GAP1 Gene

RAB3 GTPase activating protein subunit 1 (catalytic)

This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

PSMB9 Gene

proteasome (prosome, macropain) subunit, beta type, 9

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 1 (proteasome beta 6 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. [provided by RefSeq, Mar 2010]

PSMB8 Gene

proteasome (prosome, macropain) subunit, beta type, 8

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]

PSMB7 Gene

proteasome (prosome, macropain) subunit, beta type, 7

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Expression of this catalytic subunit is downregulated by gamma interferon, and proteolytic processing is required to generate a mature subunit. A pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Jul 2012]

PSMB6 Gene

proteasome (prosome, macropain) subunit, beta type, 6

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

PSMB5 Gene

proteasome (prosome, macropain) subunit, beta type, 5

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]

PSMB4 Gene

proteasome (prosome, macropain) subunit, beta type, 4

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. [provided by RefSeq, Jul 2008]

PSMB3 Gene

proteasome (prosome, macropain) subunit, beta type, 3

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. The 26 S proteasome may be involved in trinucleotide repeat expansion, a phenomenon which is associated with many hereditary neurological diseases. Pseudogenes have been identified on chromosomes 2 and 12. Alternative splicing results in multiple transcript variants [provided by RefSeq, Sep 2013]

PSMB2 Gene

proteasome (prosome, macropain) subunit, beta type, 2

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

PSMB1 Gene

proteasome (prosome, macropain) subunit, beta type, 1

The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. [provided by RefSeq, Jul 2008]

LOC390282 Gene

eukaryotic translation initiation factor 3, subunit F pseudogene

KRR1 Gene

KRR1, small subunit (SSU) processome component, homolog (yeast)

PPP3CA Gene

protein phosphatase 3, catalytic subunit, alpha isozyme

PPP3CB Gene

protein phosphatase 3, catalytic subunit, beta isozyme

PPP3CC Gene

protein phosphatase 3, catalytic subunit, gamma isozyme

Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

LOC347381 Gene

hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit pseudogene

LOC100533945 Gene

succinate-CoA ligase, ADP-forming, beta subunit pseudogene

PDSS2 Gene

prenyl (decaprenyl) diphosphate synthase, subunit 2

The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]

PDSS1 Gene

prenyl (decaprenyl) diphosphate synthase, subunit 1

The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]

ATP6V1G1P4 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 4

ATP6V1G1P7 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 7

ATP6V1G1P1 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 1

ATP6V1G1P3 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 3

EIF3EP4 Gene

eukaryotic translation initiation factor 3, subunit E pseudogene 4

PPP1R26 Gene

protein phosphatase 1, regulatory subunit 26

PPP1R27 Gene

protein phosphatase 1, regulatory subunit 27

PPP1R21 Gene

protein phosphatase 1, regulatory subunit 21

LOC100131158 Gene

eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa pseudogene

PPP1R13B Gene

protein phosphatase 1, regulatory subunit 13B

This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008]

PPP1R13L Gene

protein phosphatase 1, regulatory subunit 13 like

IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008]

LOC100631380 Gene

protein phosphatase 6, regulatory subunit 2 pseudogene 1

LOC100506672 Gene

cytochrome c oxidase subunit VIIc pseudogene

LOC101180897 Gene

Rab geranylgeranyltransferase, beta subunit pseudogene

COX6B1P7 Gene

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 7

COX6B1P5 Gene

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 5

LOC105376811 Gene

laminin subunit beta-2-like

COX5A Gene

cytochrome c oxidase subunit Va

Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008]

COX5B Gene

cytochrome c oxidase subunit Vb

Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Vb of the human mitochondrial respiratory chain enzyme. [provided by RefSeq, Jul 2008]

LOC101929104 Gene

mitochondrial import receptor subunit TOM22 homolog pseudogene

CCT4P2 Gene

chaperonin containing TCP1, subunit 4 (delta) pseudogene 2

PSMD14 Gene

proteasome (prosome, macropain) 26S subunit, non-ATPase, 14

This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012]

PSMD11 Gene

proteasome (prosome, macropain) 26S subunit, non-ATPase, 11

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S9 family that functions as a non-ATPase subunit of the 19S regulator and is phosphorylated by AMP-activated protein kinase. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]

PSMD10 Gene

proteasome (prosome, macropain) 26S subunit, non-ATPase, 10

This gene encodes a subunit of the PA700/19S complex, which is the regulatory component of the 26S proteasome. The 26S proteosome complex is required for ubiquitin-dependent protein degradation. This protein is a non-ATPase subunit that may be involved in protein-protein interactions. Aberrant expression of this gene may paly a role in tumorigenesis. Two transcripts encoding different isoforms have been described. Pseudogenes have been identified on chromosomes 3 and 20.[provided by RefSeq, Mar 2011]

PSMD13 Gene

proteasome (prosome, macropain) 26S subunit, non-ATPase, 13

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

PSMD12 Gene

proteasome (prosome, macropain) 26S subunit, non-ATPase, 12

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. [provided by RefSeq, Jul 2008]

LOC101060089 Gene

cleavage and polyadenylation specificity factor subunit 5-like

COPS8P1 Gene

COP9 signalosome subunit 8 pseudogene 1

EIF3FP1 Gene

eukaryotic translation initiation factor 3, subunit F pseudogene 1

EIF3FP2 Gene

eukaryotic translation initiation factor 3, subunit F pseudogene 2

EIF3FP3 Gene

eukaryotic translation initiation factor 3, subunit F pseudogene 3

KCNMB3P1 Gene

potassium channel subfamily M regulatory beta subunit 3 pseudogene 1

PPP6C Gene

protein phosphatase 6, catalytic subunit

This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X. [provided by RefSeq, Jul 2008]

LOC100421419 Gene

protein phosphatase 4, regulatory subunit 2 pseudogene

PSMB3P Gene

proteasome (prosome, macropain) subunit, beta type, 3 pseudogene

COX7A2L Gene

cytochrome c oxidase subunit VIIa polypeptide 2 like

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. [provided by RefSeq, Jul 2008]

LOC105377135 Gene

transcription initiation factor TFIID subunit 4-like

SCN1B Gene

sodium channel, voltage gated, type I beta subunit

Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

SCN1A Gene

sodium channel, voltage gated, type I alpha subunit

The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit, and two smaller auxiliary beta subunits. This gene encodes the large alpha subunit, and mutations in this gene have been associated with several epilepsy, convulsion and migraine disorders. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript.[provided by RefSeq, Jan 2011]

LOC644661 Gene

importin subunit alpha-1 pseudogene

PDPR Gene

pyruvate dehydrogenase phosphatase regulatory subunit

LOC101929895 Gene

eukaryotic translation initiation factor 3 subunit A-like

PDP1 Gene

pyruvate dehyrogenase phosphatase catalytic subunit 1

Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]

PDP2 Gene

pyruvate dehyrogenase phosphatase catalytic subunit 2

KATNBL1 Gene

katanin p80 subunit B-like 1

PSME2P6 Gene

proteasome activator subunit 2 pseudogene 6

PSME2P4 Gene

proteasome activator subunit 2 pseudogene 4

PSME2P3 Gene

proteasome activator subunit 2 pseudogene 3

SPTLC1P1 Gene

serine palmitoyltransferase, long chain base subunit 1 pseudogene 1

SPTLC1P2 Gene

serine palmitoyltransferase, long chain base subunit 1 pseudogene 2

SPTLC1P5 Gene

serine palmitoyltransferase, long chain base subunit 1 pseudogene 5

SPTLC1P4 Gene

serine palmitoyltransferase, long chain base subunit 1 pseudogene 4

RRP9 Gene

ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)

This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]

SCNN1D Gene

sodium channel, non voltage gated 1 delta subunit

SCNN1B Gene

sodium channel, non voltage gated 1 beta subunit

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]

SCNN1A Gene

sodium channel, non voltage gated 1 alpha subunit

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]

LOC100422479 Gene

integrin, alpha X (complement component 3 receptor 4 subunit) pseudogene

PPP1R10P1 Gene

protein phosphatase 1, regulatory subunit 10 pseudogene 1

NAA50 Gene

N(alpha)-acetyltransferase 50, NatE catalytic subunit

SF3A3P1 Gene

splicing factor 3a, subunit 3 pseudogene 1

SF3A3P2 Gene

splicing factor 3a, subunit 3 pseudogene 2

ITGB2 Gene

integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)

This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

RNASEH2A Gene

ribonuclease H2, subunit A

The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]

RNASEH2C Gene

ribonuclease H2, subunit C

This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]

RNASEH2B Gene

ribonuclease H2, subunit B

RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]

SCN9A Gene

sodium channel, voltage gated, type IX alpha subunit

This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]

PPP6CP Gene

protein phosphatase 6, catalytic subunit pseudogene

PAFAH1B1P1 Gene

platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 pseudogene 1

COX6CP4 Gene

cytochrome c oxidase subunit VIc pseudogene 4

LOC100533944 Gene

succinate-CoA ligase, ADP-forming, beta subunit pseudogene

LOC390705 Gene

protein phosphatase 2, regulatory subunit B'', beta pseudogene

LOC100533948 Gene

succinate-CoA ligase, ADP-forming, beta subunit pseudogene

COPS8 Gene

COP9 signalosome subunit 8

The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

COPS2 Gene

COP9 signalosome subunit 2

COPS3 Gene

COP9 signalosome subunit 3

The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

COPS6 Gene

COP9 signalosome subunit 6

The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein belongs to translation initiation factor 3 (eIF3) superfamily. It is involved in the regulation of cell cycle and likely to be a cellular cofactor for HIV-1 accessory gene product Vpr. [provided by RefSeq, Jul 2008]

COPS4 Gene

COP9 signalosome subunit 4

This gene encodes one of eight subunits composing COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

COPS5 Gene

COP9 signalosome subunit 5

The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein is reported to be involved in the degradation of cyclin-dependent kinase inhibitor CDKN1B/p27Kip1. It is also known to be an coactivator that increases the specificity of JUN/AP1 transcription factors. [provided by RefSeq, Jul 2008]

PSMA2P3 Gene

proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 3

TSEN54 Gene

TSEN54 tRNA splicing endonuclease subunit

This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009]

PSMA2P1 Gene

proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 1

LOC642890 Gene

N(alpha)-acetyltransferase 50, NatE catalytic subunit pseudogene

PPP1R14D Gene

protein phosphatase 1, regulatory (inhibitor) subunit 14D

Protein phosphatase-1 (PP1; see MIM 176875) is a major cellular phosphatase that reverses serine/threonine protein phosphorylation. PPP1R14D is a PP1 inhibitor that itself is regulated by phosphorylation (Liu et al., 2004 [PubMed 12974676]).[supplied by OMIM, Feb 2010]

PPP1R14B Gene

protein phosphatase 1, regulatory (inhibitor) subunit 14B

PPP1R14C Gene

protein phosphatase 1, regulatory (inhibitor) subunit 14C

The degree of protein phosphorylation is regulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor of PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010]

PPP1R14A Gene

protein phosphatase 1, regulatory (inhibitor) subunit 14A

The protein encoded by this gene belongs to the protein phosphatase 1 (PP1) inhibitor family. This protein is an inhibitor of smooth muscle myosin phosphatase, and has higher inhibitory activity when phosphorylated. Inhibition of myosin phosphatase leads to increased myosin phosphorylation and enhanced smooth muscle contraction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Sep 2011]

ATP6V1G1P6 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 6

ATP6V1G1P2 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 2

LOC100133326 Gene

serine/threonine-protein phosphatase 4 regulatory subunit 2-like

LOC105369236 Gene

structure-specific endonuclease subunit SLX1-like

LOC100129052 Gene

N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) pseudogene

COX7B2 Gene

cytochrome c oxidase subunit VIIb2

COX6C Gene

cytochrome c oxidase subunit VIc

Cytochrome c oxidase, the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIc, which has 77% amino acid sequence identity with mouse subunit VIc. This gene is up-regulated in prostate cancer cells. A pseudogene has been found on chromosomes 16p12. [provided by RefSeq, Jul 2010]

PSMA2P2 Gene

proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 2

COX6A1 Gene

cytochrome c oxidase subunit VIa polypeptide 1

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]

COX6A2 Gene

cytochrome c oxidase subunit VIa polypeptide 2

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]

ATP6V1E1 Gene

ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]

ATP6V1E2 Gene

ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2

PPP1R12BP1 Gene

protein phosphatase 1, regulatory subunit 12B pseudogene, Y-linked 1

PPP1R12BP2 Gene

protein phosphatase 1, regulatory subunit 12B Y-linked pseudogene 2

CKS2 Gene

CDC28 protein kinase regulatory subunit 2

CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS2 mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects specialized role for the encoded protein. [provided by RefSeq, Jul 2008]

LOC100287189 Gene

Sec61 beta subunit pseudogene

RPP25L Gene

ribonuclease P/MRP 25kDa subunit-like

This gene encodes a protein that appears to belong to a family of evolutionarily related proteins (DUF78), that may share one or more domains in common. Members of this family are small archaebacterial proteins with no known function. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

DPM2 Gene

dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit

Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. [provided by RefSeq, Jul 2008]

DPM1 Gene

dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit

Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. [provided by RefSeq, Jul 2008]

LOC100132108 Gene

proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene

LOC101060521 Gene

DNA-directed RNA polymerase III subunit RPC5

TCIRG1 Gene

T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3

Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, Jul 2008]

SCN11A Gene

sodium channel, voltage gated, type XI alpha subunit

Voltage-gated sodium channels are membrane protein complexes that play a fundamental role in the rising phase of the action potential in most excitable cells. Alpha subunits, such as SCN11A, mediate voltage-dependent gating and conductance, while auxiliary beta subunits regulate the kinetic properties of the channel and facilitate membrane localization of the complex. Aberrant expression patterns or mutations of alpha subunits underlie a number of disorders. Each alpha subunit consists of 4 domains connected by 3 intracellular loops; each domain consists of 6 transmembrane segments and intra- and extracellular linkers.[supplied by OMIM, Apr 2004]

LOC101929862 Gene

RNA polymerase II transcription factor SIII subunit A3-like

IGFALS Gene

insulin-like growth factor binding protein, acid labile subunit

The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

LOC100288771 Gene

prefoldin subunit 1 pseudogene

CCT8P1 Gene

chaperonin containing TCP1, subunit 8 (theta) pseudogene 1

PDSS1P1 Gene

prenyl (decaprenyl) diphosphate synthase, subunit 1 pseudogene 1

PDSS1P2 Gene

prenyl (decaprenyl) diphosphate synthase, subunit 1 pseudogene 2

LOC649166 Gene

eukaryotic translation initiation factor 3, subunit J pseudogene

EME2 Gene

essential meiotic structure-specific endonuclease subunit 2

EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]

LOC100421808 Gene

protein phosphatase 2, regulatory subunit B, gamma pseudogene

RPP40 Gene

ribonuclease P/MRP 40kDa subunit

LOC100421802 Gene

protein phosphatase 2, regulatory subunit B, alpha pseudogene

NAA20 Gene

N(alpha)-acetyltransferase 20, NatB catalytic subunit

NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).[supplied by OMIM, Apr 2009]

NAA25 Gene

N(alpha)-acetyltransferase 25, NatB auxiliary subunit

This gene encodes the auxiliary subunit of the heteromeric N-terminal acetyltransferase B complex. This complex acetylates methionine residues that are followed by acidic or asparagine residues.[provided by RefSeq, Mar 2010]

LOC647208 Gene

protein phosphatase 2, regulatory subunit B'', beta pseudogene

PSMD10P3 Gene

proteasome 26S subunit, non-ATPase, 10 pseudogene 3

PSMD10P2 Gene

proteasome 26S subunit, non-ATPase, 10 pseudogene 2

PSMD10P1 Gene

proteasome 26S subunit, non-ATPase, 10 pseudogene 1

PPP2R2DP1 Gene

protein phosphatase 2, regulatory subunit B, delta pseudogene 1

HADHAP2 Gene

hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit pseudogene 2