Name

RNLS Gene

renalase, FAD-dependent amine oxidase

Renalase is a flavin adenine dinucleotide-dependent amine oxidase that is secreted into the blood from the kidney (Xu et al., 2005 [PubMed 15841207]).[supplied by OMIM, Mar 2008]

FOXRED2 Gene

FAD-dependent oxidoreductase domain containing 2

FOXRED1 Gene

FAD-dependent oxidoreductase domain containing 1

This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

HAO1 Gene

hydroxyacid oxidase (glycolate oxidase) 1

This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008]

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]

OXA1L Gene

oxidase (cytochrome c) assembly 1-like

PCYOX1L Gene

prenylcysteine oxidase 1 like

ACOXL Gene

acyl-CoA oxidase-like

LOXL1 Gene

lysyl oxidase-like 1

This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]

LOXL2 Gene

lysyl oxidase-like 2

This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]

LOXL3 Gene

lysyl oxidase-like 3

This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Alternatively spliced transcript variants of this gene have been reported but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

LOXL4 Gene

lysyl oxidase-like 4

This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]

LOC100288385 Gene

cytochrome c oxidase subunit VIIa polypeptide 2 like pseudogene

LOC100288010 Gene

cytochrome c oxidase subunit VIIa polypeptide 2 like pseudogene

LOC102724175 Gene

membrane primary amine oxidase-like

LOC440792 Gene

proline dehydrogenase (oxidase) 1 pseudogene

COX4I1P1 Gene

cytochrome c oxidase subunit IV isoform 1 pseudogene 1

COX4I1P2 Gene

cytochrome c oxidase subunit IV isoform 1 pseudogene 2

UOX Gene

urate oxidase, pseudogene

Urate oxidase is an enzyme that catalyzes the oxidation of uric acid to allantoin. This gene has been inactivated by mutation and is nonfunctional in humans and some other primates. [provided by RefSeq, Jul 2008]

AOC2 Gene

amine oxidase, copper containing 2 (retina-specific)

Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

LOC100506672 Gene

cytochrome c oxidase subunit VIIc 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

DAOA Gene

D-amino acid oxidase activator

This gene encodes a protein that may function as an activator of D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Studies also suggest that one encoded isoform may play a role in mitochondrial function and dendritic arborization. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Mar 2011]

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]

LOC692246 Gene

cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae) pseudogene

SCO1 Gene

SCO1 cytochrome c oxidase assembly protein

Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008]

LOC100287067 Gene

mitochondrially encoded cytochrome c oxidase I pseudogene

MAOB Gene

monoamine oxidase B

The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine. [provided by RefSeq, Jul 2008]

MAOA Gene

monoamine oxidase A

This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has also been associated with a variety of other psychiatric disorders, including antisocial behavior. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]

COX6CP4 Gene

cytochrome c oxidase subunit VIc pseudogene 4

TACO1 Gene

translational activator of mitochondrially encoded cytochrome c oxidase I

This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010]

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]

PNPO Gene

pyridoxamine 5'-phosphate oxidase

The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]

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]

COX19 Gene

COX19 cytochrome c oxidase assembly factor

COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM, Mar 2008]

DUOX1 Gene

dual oxidase 1

The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes proteins encoded by this gene and the similar DUOX2 gene. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. This protein generates hydrogen peroxide and thereby plays a role in the activity of thyroid peroxidase, lactoperoxidase, and in lactoperoxidase-mediated antimicrobial defense at mucosal surfaces. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2012]

DUOX2 Gene

dual oxidase 2

The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008]

NOX1 Gene

NADPH oxidase 1

This gene encodes a member of the NADPH oxidase family of enzymes responsible for the catalytic one-electron transfer of oxygen to generate superoxide or hydrogen peroxide. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]

NOX3 Gene

NADPH oxidase 3

This gene encodes a member of the NOX family of NADPH oxidases. These enzymes have the capacity to generate superoxide and other reactive oxygen species (ROS) and transport electrons across the plasma membrane. The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity.[provided by RefSeq, May 2009]

NOX5 Gene

NADPH oxidase, EF-hand calcium binding domain 5

This gene is predominantly expressed in the testis and lymphocyte-rich areas of spleen and lymph nodes. It encodes a calcium-dependen NADPH oxidase that generates superoxide, and functions as a calcium-dependent proton channel that may regulate redox-dependent processes in lymphocytes and spermatozoa. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

NOX4 Gene

NADPH oxidase 4

This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]

QSOX2 Gene

quiescin Q6 sulfhydryl oxidase 2

QSOX2 is a member of the sulfhydryl oxidase/quiescin-6 (Q6) family (QSOX1; MIM 603120) that regulates the sensitization of neuroblastoma cells for IFN-gamma (IFNG; MIM 147570)-induced cell death (Wittke et al., 2003 [PubMed 14633699]).[supplied by OMIM, Jun 2009]

ACOX2 Gene

acyl-CoA oxidase 2, branched chain

The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe mental retardation, and death in children. [provided by RefSeq, Mar 2009]

ACOX3 Gene

acyl-CoA oxidase 3, pristanoyl

Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008]

ACOX1 Gene

acyl-CoA oxidase 1, palmitoyl

The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

COX5BP8 Gene

cytochrome c oxidase subunit Vb pseudogene 8

COX5BP4 Gene

cytochrome c oxidase subunit Vb pseudogene 4

COX5BP5 Gene

cytochrome c oxidase subunit Vb pseudogene 5

COX5BP6 Gene

cytochrome c oxidase subunit Vb pseudogene 6

COX5BP7 Gene

cytochrome c oxidase subunit Vb pseudogene 7

COX5BP1 Gene

cytochrome c oxidase subunit Vb pseudogene 1

COX5BP2 Gene

cytochrome c oxidase subunit Vb pseudogene 2

COX5BP3 Gene

cytochrome c oxidase subunit Vb pseudogene 3

LOC100507586 Gene

cytochrome c oxidase subunit VIIb pseudogene

SC4MOP Gene

sterol-C4-methyl oxidase pseudogene

COX17P1 Gene

COX17 cytochrome c oxidase copper chaperone pseudogene 1

QSOX1 Gene

quiescin Q6 sulfhydryl oxidase 1

This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

COX20P2 Gene

COX20 cytochrome c oxidase assembly factor pseudogene 2

COX20P1 Gene

COX20 cytochrome c oxidase assembly factor pseudogene 1

PAOX Gene

polyamine oxidase (exo-N4-amino)

AOC3 Gene

amine oxidase, copper containing 3

This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

SMOX Gene

spermine oxidase

Polyamines are ubiquitous polycationic alkylamines which include spermine, spermidine, putrescine, and agmatine. These molecules participate in a broad range of cellular functions which include cell cycle modulation, scavenging reactive oxygen species, and the control of gene expression. These molecules also play important roles in neurotransmission through their regulation of cell-surface receptor activity, involvement in intracellular signalling pathways, and their putative roles as neurotransmitters. This gene encodes an FAD-containing enzyme that catalyzes the oxidation of spermine to spermadine and secondarily produces hydrogen peroxide. Multiple transcript variants encoding different isoenzymes have been identified for this gene, some of which have failed to demonstrate significant oxidase activity on natural polyamine substrates. The characterized isoenzymes have distinctive biochemical characteristics and substrate specificities, suggesting the existence of additional levels of complexity in polyamine catabolism. [provided by RefSeq, Jul 2012]

LOC100421855 Gene

SCO1 cytochrome c oxidase assembly protein pseudogene

DUOXA1 Gene

dual oxidase maturation factor 1

Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

DUOXA2 Gene

dual oxidase maturation factor 2

This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.[provided by RefSeq, Feb 2010]

AOC4P Gene

amine oxidase, copper containing 4, pseudogene

CPOX Gene

coproporphyrinogen oxidase

The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]

COX14 Gene

COX14 cytochrome c oxidase assembly factor

This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

AOC1 Gene

amine oxidase, copper containing 1

This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

COX7BP2 Gene

cytochrome c oxidase subunit VIIb pseudogene 2

COX7BP1 Gene

cytochrome c oxidase subunit VIIb pseudogene 1

COX7A2P2 Gene

cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 2

LOC100289479 Gene

cytochrome c oxidase subunit VIIb pseudogene

PIPOX Gene

pipecolic acid oxidase

COX6CP5 Gene

cytochrome c oxidase subunit VIc pseudogene 5

COX6CP6 Gene

cytochrome c oxidase subunit VIc pseudogene 6

AOX1 Gene

aldehyde oxidase 1

Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]

COX18 Gene

COX18 cytochrome c oxidase assembly factor

This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

COX10 Gene

COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor

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 heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]

COX11 Gene

COX11 cytochrome c oxidase copper chaperone

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 which is not a structural subunit, but may be a heme A biosynthetic enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6. [provided by RefSeq, Jun 2009]

COX15 Gene

cytochrome c oxidase assembly homolog 15 (yeast)

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 which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008]

COX16 Gene

COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)

COX17 Gene

COX17 cytochrome c oxidase copper chaperone

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 which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. [provided by RefSeq, Jul 2008]

PRODH Gene

proline dehydrogenase (oxidase) 1

This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]

COX7CP1 Gene

cytochrome c oxidase subunit VIIc pseudogene 1

LOC100289404 Gene

mitochondrially encoded cytochrome c oxidase II pseudogene

COX6A1P2 Gene

cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 2

COX6A1P1 Gene

cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 1

COA5 Gene

cytochrome c oxidase assembly factor 5

This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]

COA4 Gene

cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)

COA7 Gene

cytochrome c oxidase assembly factor 7 (putative)

COA6 Gene

cytochrome c oxidase assembly factor 6

This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

COA1 Gene

cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)

COA3 Gene

cytochrome c oxidase assembly factor 3

This gene encodes a member of the cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to mitochondria and is essential for cytochrome c oxidase function. [provided by RefSeq, Nov 2012]

GULOP Gene

gulonolactone (L-) oxidase, pseudogene

This gene is nonfunctional in humans and other primates. In most mammalian species the corresponding gene encodes L-gulono-gamma-lactone oxidase which catalyzes the last step of ascorbic acid biosynthesis. The human gene is a remnant that lacks five of twelve exons found in functional rodent genes. The loss of enzyme activity results in hypoascorbemia or the inability to synthesize vitamin C. [provided by RefSeq, Nov 2010]

LOC729960 Gene

NADPH oxidase 4 pseudogene

AOX2P Gene

aldehyde oxidase 2 pseudogene

MT-CO1 Gene

cytochrome c oxidase subunit I

MT-CO2 Gene

cytochrome c oxidase subunit II

MT-CO3 Gene

cytochrome c oxidase III

DDO Gene

D-aspartate oxidase

The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. Flavin adenine dinucleotide or 6-hydroxyflavin adenine dinucleotide can serve as the cofactor in this reaction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

COX8BP Gene

cytochrome c oxidase subunit VIIIB, pseudogene

Cytochrome c oxidase 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. In addition a number of cytochrome c oxidase subunit pseudogenes have been found. This gene represents a subunit which has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Jul 2008]

LOC100419911 Gene

prenylcysteine oxidase 1 pseudogene

NOXO1 Gene

NADPH oxidase organizer 1

This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]

PRODH2 Gene

proline dehydrogenase (oxidase) 2

The protein encoded by this gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial enzyme which catalyzes the first step in proline catabolism. The function of this protein has not been determined. [provided by RefSeq, Jul 2008]

COX20 Gene

COX20 cytochrome c oxidase assembly factor

SCO2 Gene

SCO2 cytochrome c oxidase assembly protein

Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]

LOC100533622 Gene

sulfite oxidase pseudogene

PCYOX1 Gene

prenylcysteine oxidase 1

Prenylcysteine is released during the degradation of prenylated proteins. PCYOX1 catalyzes the degradation of prenylcysteine to yield free cysteines and a hydrophobic isoprenoid product (Tschantz et al., 1999 [PubMed 10585463]).[supplied by OMIM, Mar 2008]

COX6CP1 Gene

cytochrome c oxidase subunit VIc pseudogene 1

COX6CP2 Gene

cytochrome c oxidase subunit VIc pseudogene 2

COX6CP3 Gene

cytochrome c oxidase subunit VIc pseudogene 3

COX4I2 Gene

cytochrome c oxidase subunit IV isoform 2 (lung)

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 isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]

COX4I1 Gene

cytochrome c oxidase subunit IV isoform 1

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 IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. [provided by RefSeq, Jul 2008]

LOX Gene

lysyl oxidase

The protein encoded by this gene is an extracellular copper enzyme that initiates the crosslinking of collagens and elastin. The enzyme catalyzes oxidative deamination of the epsilon-amino group in certain lysine and hydroxylysine residues of collagens and lysine residues of elastin. In addition to crosslinking extracellular matrix proteins, the encoded protein may have a role in tumor suppression. Defects in this gene are a cause of autosomal recessive cutis laxa type I (CL type I). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

COX11P1 Gene

COX11 cytochrome c oxidase copper chaperone pseudogene 1

COX7A1 Gene

cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)

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 polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide 1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes. [provided by RefSeq, Jul 2008]

COX7A2 Gene

cytochrome c oxidase subunit VIIa polypeptide 2 (liver)

Cytochrome c oxidase, 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 three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009]

COX7B Gene

cytochrome c oxidase subunit VIIb

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 subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011]

COX7C Gene

cytochrome c oxidase subunit VIIc

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 subunit VIIc, which shares 87% and 85% amino acid sequence identity with mouse and bovine COX VIIc, respectively, and is found in all tissues. A pseudogene COX7CP1 has been found on chromosome 13. [provided by RefSeq, Jul 2008]

COX6B1 Gene

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)

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 subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]

COX6B2 Gene

cytochrome c oxidase subunit VIb polypeptide 2 (testis)

DAO Gene

D-amino-acid oxidase

This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq, Jul 2008]

COX7A2P1 Gene

cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 1

LOC100289371 Gene

mitochondrially encoded cytochrome c oxidase III pseudogene

COX6B1P4 Gene

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 4

COX6B1P3 Gene

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 3

COX6B1P2 Gene

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 2

COX6B1P1 Gene

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

COX6B1P6 Gene

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 6

PPOX Gene

protoporphyrinogen oxidase

This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

NOXA1 Gene

NADPH oxidase activator 1

This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

COX8C Gene

cytochrome c oxidase subunit VIIIC

COX8A Gene

cytochrome c oxidase subunit VIIIA (ubiquitous)

The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008]

COX5AP2 Gene

cytochrome c oxidase subunit Va pseudogene 2

COX5AP1 Gene

cytochrome c oxidase subunit Va pseudogene 1

SUOX Gene

sulfite oxidase

Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxidative degradation of the sulfur amino acids cysteine and methionine. Sulfite oxidase deficiency results in neurological abnormalities which are often fatal at an early age. Alternative splicing results in multiple transcript variants encoding identical proteins. [provided by RefSeq, Jul 2008]

COX6A1P3 Gene

cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 3

HAO2 Gene

hydroxyacid oxidase 2 (long chain)

This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ALG1L7P Gene

asparagine-linked glycosylation 1-like 7, pseudogene

PRYP2 Gene

PTPN13-like, Y-linked pseudogene 2

PRYP3 Gene

PTPN13-like, Y-linked pseudogene 3

PRYP1 Gene

PTPN13-like, Y-linked pseudogene 1

PRYP4 Gene

PTPN13-like, Y-linked pseudogene 4

NAALADL2 Gene

N-acetylated alpha-linked acidic dipeptidase-like 2

NAALADL1 Gene

N-acetylated alpha-linked acidic dipeptidase-like 1

RBMXL1 Gene

RNA binding motif protein, X-linked-like 1

This gene represents a retrogene of RNA binding motif protein, X-linked (RBMX), which is located on chromosome X. While all introns in the coding sequence have been processed out compared to the RBMX locus, the ORF is intact and there is specific evidence for transcription at this location. The preservation of the ORF by purifying selection in all Old World monkeys carrying it suggests that this locus is likely to be functional, possibly during male meiosis when X chromosomal genes are silenced or during haploid stages of spermatogenesis. This gene shares 5' exon structure with the cysteine conjugate-beta lyase 2 locus on chromosome 1, but the coding sequences are non-overlapping. Alternative splicing results in two transcript variants. [provided by RefSeq, Jun 2009]

RBMXL3 Gene

RNA binding motif protein, X-linked-like 3

RBMXL2 Gene

RNA binding motif protein, X-linked-like 2

This gene belongs to the HNRPG subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind RNAs. This gene is intronless and is thought to be derived from a processed retroposon. However, unlike many retroposon-derived genes, this gene is not a pseudogene. The encoded protein has similarity to HNRPG and RBMY proteins and it is suggested to replace HNRPG protein function during meiotic prophase or act as a germ cell-specific splicing regulator. It primarily localizes to the nuclei of meiotic spermatocytes. This gene is a candidate for autosomal male infertility. [provided by RefSeq, Jul 2008]

LOC101060346 Gene

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

TBL1YP1 Gene

transducin (beta)-like 1, Y-linked pseudogene 1

ALG1L5P Gene

asparagine-linked glycosylation 1-like 5, pseudogene

LOC100288788 Gene

RNA binding motif protein, X-linked-like 3 pseudogene

LOC101928917 Gene

heat shock transcription factor, X-linked-like

ALG1L8P Gene

asparagine-linked glycosylation 1-like 8, pseudogene

NUDT16L1 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1

ALG1L6P Gene

asparagine-linked glycosylation 1-like 6, pseudogene

PRY Gene

PTPN13-like, Y-linked

This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. It encodes a protein which has a low degree of similarity to protein tyrosine phosphatase, non-receptor type 13. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

ALG1L15P Gene

asparagine-linked glycosylation 1-like 15, pseudogene

ALG1L12P Gene

asparagine-linked glycosylation 1-like 12, pseudogene

TGIF2LY Gene

TGFB-induced factor homeobox 2-like, Y-linked

This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. This gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. The C-terminus of this protein is divergent from that of its chromosome X homolog (TGIF2LX), suggesting that this protein may act as a regulator of TGIF2LX. [provided by RefSeq, Jul 2008]

TGIF2LX Gene

TGFB-induced factor homeobox 2-like, X-linked

This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. Testis-specific expression suggests that this gene may play a role in spermatogenesis. A homolog of this gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. [provided by RefSeq, Jul 2008]

ALG1L14P Gene

asparagine-linked glycosylation 1-like 14, pseudogene

ALG1L3P Gene

asparagine-linked glycosylation 1-like 3, pseudogene

PRY2 Gene

PTPN13-like, Y-linked 2

This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. It encodes a protein which has a low degree of similarity to protein tyrosine phosphatase, non-receptor type 13. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

TBL1X Gene

transducin (beta)-like 1X-linked

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008]

TBL1Y Gene

transducin (beta)-like 1, Y-linked

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

TBL1XR1 Gene

transducin (beta)-like 1 X-linked receptor 1

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. [provided by RefSeq, Jul 2008]

ALG1L9P Gene

asparagine-linked glycosylation 1-like 9, pseudogene

LOC101927685 Gene

heat shock transcription factor, X-linked-like

LOC100421513 Gene

transducin (beta)-like 1 X-linked receptor 1 pseudogene

NUDT19P5 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 5

TTTY25P Gene

testis-specific transcript, Y-linked 25, pseudogene

NUDT19P1 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 1

NUDT19P3 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 3

ZNF736P3Y Gene

zinc finger protein 736 pseudogene 3, Y-linked

BEX5 Gene

brain expressed, X-linked 5

BEX4 Gene

brain expressed, X-linked 4

This gene is a member of the brain expressed X-linked gene family. The proteins encoded by some of the other members of this family act as transcription elongation factors which allow RNA polymerase II to escape pausing during elongation. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011]

BEX2 Gene

brain expressed X-linked 2

This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element and promotes transcription. This gene has been found to be a tumor suppressor that is silenced in human glioma. In breast cancer cells, this gene product modulates apoptosis in response to estrogen and tamoxifen, and enhances the anti-proliferative effect of tamoxifen. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

BEX1 Gene

brain expressed, X-linked 1

TSPY8 Gene

testis specific protein, Y-linked 8

TSPY2 Gene

testis specific protein, Y-linked 2

TSPY1 Gene

testis specific protein, Y-linked 1

The protein encoded by this gene is found only in testicular tissue and may be involved in spermatogenesis. Approximately 35 copies of this gene are present in humans, but only a single, nonfunctional orthologous gene is found in mouse. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

HSFX2 Gene

heat shock transcription factor family, X linked 2

EMWX Gene

episodic muscle weakness, X-linked

RBMY2JP Gene

RNA binding motif protein, Y-linked, family 2, member J pseudogene

UTY Gene

ubiquitously transcribed tetratricopeptide repeat containing, Y-linked

This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. The encoded protein is also a minor histocompatibility antigen which may induce graft rejection of male stem cell grafts. A large number of alternatively spliced transcripts have been observed for this gene, but the full length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2012]

NUDT19P4 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 4

OFD1P8Y Gene

OFD1 pseudogene 8, Y-linked

GRDX Gene

Graves disease, susceptibility to, X-linked

RBMY1HP Gene

RNA binding motif protein, Y-linked, family 1, member H, pseudogene

USP9X Gene

ubiquitin specific peptidase 9, X-linked

This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

USP9Y Gene

ubiquitin specific peptidase 9, Y-linked

This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. [provided by RefSeq, Mar 2009]

HPCX Gene

hereditary prostate cancer, X-linked

USP9YP34 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 34

USP9YP30 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 30

MRXSAB Gene

Abidi X-linked mental retardation syndrome

MRX18 Gene

mental retardation, X-linked 18

MRX11 Gene

mental retardation, X-linked 11

MRX12 Gene

mental retardation, X-linked 12

MRX15 Gene

mental retardation, X-linked 15

MRX14 Gene

mental retardation, X-linked 14

MRX17 Gene

mental retardation, X-linked 17

TSPY18P Gene

testis specific protein, Y-linked 18, pseudogene

NLGN4Y Gene

neuroligin 4, Y-linked

This gene encodes a type I membrane protein that belongs to the family of neuroligins, which are cell adhesion molecules present at the postsynaptic side of the synapse, and may be essential for the formation of functional synapses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Mar 2011]

NLGN4X Gene

neuroligin 4, X-linked

This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs large homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

TSPY23P Gene

testis specific protein, Y-linked 23, pseudogene

OFD1P18Y Gene

OFD1 pseudogene 18, Y-linked

RP34 Gene

retinitis pigmentosa 34 (X-linked recessive)

CDY10P Gene

chromodomain protein, Y-linked 10 pseudogene

RBMY2GP Gene

RNA binding motif protein, Y-linked, family 2, member G pseudogene

TRIM60P7Y Gene

tripartite motif containing 60 pseudogene 7, Y-linked

TTTY13B Gene

testis-specific transcript, Y-linked 13B

MRX92 Gene

Mental retardation, X-linked 92

MRX95 Gene

Mental retardation, X-linked 95

TSPY4 Gene

testis specific protein, Y-linked 4

TSPY3 Gene

testis specific protein, Y-linked 3

RPS4Y2 Gene

ribosomal protein S4, Y-linked 2

The protein encoded by this gene is a ribosomal protein that is highly similar to RPS4Y1. This gene is located in the male-specific region of the Y chromosome. [provided by RefSeq, Aug 2012]

RPS4Y1 Gene

ribosomal protein S4, Y-linked 1

Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, X-linked (RPS4X). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

RNF19BPX Gene

ring finger protein 19B pseudogene, X-linked

RNF19BPY Gene

ring finger protein 19B pseudogene, Y-linked

TTTY28P Gene

testis-specific transcript, Y-linked 28, pseudogene

DELYQ11 Gene

Sertoli cell-only syndrome, Y-linked

SPANXA1 Gene

sperm protein associated with the nucleus, X-linked, family member A1

Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A2, which appears to be a duplication of the A1 locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008]

OFD1P10Y Gene

OFD1 pseudogene 10, Y-linked

HSFX1 Gene

heat shock transcription factor family, X linked 1

TSPY17P Gene

testis specific protein, Y-linked 17, pseudogene

CDY18P Gene

chromodomain protein, Y-linked 18 pseudogene

FAM199YP Gene

family with sequence similarity 199, Y-linked, pseudogene

RBMY2OP Gene

RNA binding motif protein, Y-linked, family 2, member O pseudogene

ZNF736P7Y Gene

zinc finger protein 736 pseudogene 7, Y-linked

CDY5P Gene

chromodomain protein, Y-linked 5 pseudogene

BPY2B Gene

basic charge, Y-linked, 2B

This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more centromeric copy within the palindrome. [provided by RefSeq, Jul 2008]

BPY2C Gene

basic charge, Y-linked, 2C

This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more telomeric copy within the palindrome. [provided by RefSeq, Jul 2008]

ZNF736P4Y Gene

zinc finger protein 736 pseudogene 4, Y-linked

ZNF736P12Y Gene

zinc finger protein 736 pseudogene 12, Y-linked

RBMY1J Gene

RNA binding motif protein, Y-linked, family 1, member J

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

UBE2Q2P4Y Gene

ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 4, Y-linked

OGT Gene

O-linked N-acetylglucosamine (GlcNAc) transferase

This gene encodes a glycosyltransferase that catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate specificity of nearby sites by steric or electrostatic effects. The protein contains multiple tetratricopeptide repeats that are required for optimal recognition of substrates. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

XK Gene

X-linked Kx blood group

This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]

XS Gene

X-linked suppressor of LU antigens

An X-linked recessive inhibitor (XS) of the Lutheran blood group system (MIM 111200) has been reported. For a discussion of Lutheran blood group phenotypes, see MIM 247420.[supplied by OMIM, Jun 2009]

CDY1 Gene

chromodomain protein, Y-linked, 1

This gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

ATRX Gene

alpha thalassemia/mental retardation syndrome X-linked

The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2013]

TMSB4X Gene

thymosin beta 4, X-linked

This gene encodes an actin sequestering protein which plays a role in regulation of actin polymerization. The protein is also involved in cell proliferation, migration, and differentiation. This gene escapes X inactivation and has a homolog on chromosome Y. [provided by RefSeq, Jul 2008]

TMSB4Y Gene

thymosin beta 4, Y-linked

This gene lies within the male specific region of chromosome Y. Its homolog on chromosome X escapes X inactivation and encodes an actin sequestering protein. [provided by RefSeq, Jul 2008]

RBMY2WP Gene

RNA binding motif protein, Y-linked, family 2, member W pseudogene

PPP1R12BP1 Gene

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

PPP1R12BP2 Gene

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

UBE2Q2P5Y Gene

ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 5, Y-linked

OFD1P5Y Gene

OFD1 pseudogene 5, Y-linked

CFTDX Gene

Myopathy, congenital, with fiber-type disproportion, X-linked

TCP11X1 Gene

t-complex 11 family, X-linked 1

TCP11X2 Gene

t-complex 11 family, X-linked 2

MRX42 Gene

mental retardation, X-linked 42

MRX40 Gene

mental retardation, X-linked 40

MRX49 Gene

mental retardation, X-linked 49

TSPY20P Gene

testis specific protein, Y-linked 20, pseudogene

TTTY3B Gene

testis-specific transcript, Y-linked 3B (non-protein coding)

There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

USP9YP3 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 3

USP9YP5 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 5

USP9YP4 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 4

USP9YP1 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 1

USP9YP2 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 2

TTTY17A Gene

testis-specific transcript, Y-linked 17A (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008]

TTTY17B Gene

testis-specific transcript, Y-linked 17B (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

TTTY17C Gene

testis-specific transcript, Y-linked 17C (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

RBMY1GP Gene

RNA binding motif protein, Y-linked, family 1, member G, pseudogene

RBMY2DP Gene

RNA binding motif protein, Y-linked, family 2, member D pseudogene

NUDT4P2 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 2

NUDT4P1 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 1

NUDT15P1 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 1

CSPG4P2Y Gene

chondroitin sulfate proteoglycan 4 pseudogene 2, Y-linked

There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. This gene is identical to the transcribed locus CSPG4P1Y, GeneID 114758, but is represented as non-transcribed because there is no representative transcript available in a public sequence database. [provided by RefSeq, Feb 2011]

CMTX3 Gene

Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant)

CMTX2 Gene

Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive)

NUDT16 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 16

TSPY12P Gene

testis specific protein, Y-linked 12, pseudogene

TRIM60P2Y Gene

tripartite motif containing 60 pseudogene 2, Y-linked

CDY17P Gene

chromodomain protein, Y-linked 17 pseudogene

BPY2DP Gene

basic charge, Y-linked, 2D, pseudogene

DFN5 Gene

deafness, X-linked 5

DFN8 Gene

deafness, X-linked 8

NUDT9P1 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 9 pseudogene 1

TTTY23B Gene

testis-specific transcript, Y-linked 23B (non-protein coding)

ZNF736P1Y Gene

zinc finger protein 736 pseudogene 1, Y-linked

ZNF736P11Y Gene

zinc finger protein 736 pseudogene 11, Y-linked

SPG16 Gene

spastic paraplegia 16 (complicated, X-linked recessive)

FAM197Y2 Gene

family with sequence similarity 197, Y-linked, member 2, pseudogene

FAM197Y1 Gene

family with sequence similarity 197, Y-linked, member 1

FAM197Y5 Gene

family with sequence similarity 197, Y-linked, member 5, pseudogene

FAM197Y8 Gene

family with sequence similarity 197, Y-linked, member 8

FAM197Y9 Gene

family with sequence similarity 197, Y-linked, member 9

RBMY2TP Gene

RNA binding motif protein, Y-linked, family 2, member T pseudogene

GOLGA2P3Y Gene

golgin A2 pseudogene 3, Y-linked

There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

OFD1P6Y Gene

OFD1 pseudogene 6, Y-linked

TTTY6B Gene

testis-specific transcript, Y-linked 6B (non-protein coding)

There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

SNX18P1Y Gene

sorting nexin 18 pseudogene 1, Y-linked

INDX Gene

Immunoneurologic syndrome X-linked, of Wood, Black, and Norbury

CDY20P Gene

chromodomain protein, Y-linked 20 pseudogene

USP9YP11 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 11

USP9YP10 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 10

USP9YP13 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 13

USP9YP12 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 12

FAM41AY1 Gene

family with sequence similarity 41, member A, Y-linked 1

FAM41AY2 Gene

family with sequence similarity 41, member A, Y-linked 2

MRX37 Gene

mental retardation, X-linked 37

MRX35 Gene

mental retardation, X-linked 35

MRX31 Gene

mental retardation, X-linked 31

MRX39 Gene

mental retardation, X-linked 39

TXLNGY Gene

taxilin gamma pseudogene, Y-linked

ZXDB Gene

zinc finger, X-linked, duplicated B

The ZXDB gene is one of a pair of duplicated zinc finger genes on chromosome Xp11.21 (Greig et al., 1993 [PubMed 8268913]); see also ZXDA (MIM 300235).[supplied by OMIM, Jul 2010]

ZXDA Gene

zinc finger, X-linked, duplicated A

This gene encodes one of two duplicated zinc finger genes on chromosome Xp11. This gene is the telomeric copy; GeneID 158586 ZXDB is the more centromeric copy. The two genes have 98% nucleotide sequence similarity, and the predicted proteins contain 10 tandem zinc finger motifs. [provided by RefSeq, Nov 2009]

TRIM60P6Y Gene

tripartite motif containing 60 pseudogene 6, Y-linked

TSPY25P Gene

testis specific protein, Y-linked 25, pseudogene

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

ARMCX6 Gene

armadillo repeat containing, X-linked 6

ARMCX5 Gene

armadillo repeat containing, X-linked 5

ARMCX4 Gene

armadillo repeat containing, X-linked 4

The product of this gene belongs to the armadillo repeat-containing family of proteins, which interact with other proteins in a variety of cellular processes. The function of this family member is currently unknown. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

ARMCX3 Gene

armadillo repeat containing, X-linked 3

This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

ARMCX2 Gene

armadillo repeat containing, X-linked 2

This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]

ARMCX1 Gene

armadillo repeat containing, X-linked 1

This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and two Armadillo (arm) repeats. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX2 and ALEX3, on the X chromosome. [provided by RefSeq, Jul 2008]

TSPY11P Gene

testis specific protein, Y-linked 11, pseudogene

CDY12P Gene

chromodomain protein, Y-linked 12 pseudogene

DFNX3 Gene

deafness, X-linked 3

XIAP Gene

X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase

This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this gene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011]

RBMY2AP Gene

RNA binding motif protein, Y-linked, family 2, member A pseudogene

PRORY Gene

proline rich, Y-linked

TTTY26P Gene

testis-specific transcript, Y-linked 26, pseudogene

CDY3P Gene

chromodomain protein, Y-linked 3 pseudogene

ZNF736P2Y Gene

zinc finger protein 736 pseudogene 2, Y-linked

TTTY2 Gene

testis-specific transcript, Y-linked 2 (non-protein coding)

TTTY3 Gene

testis-specific transcript, Y-linked 3 (non-protein coding)

There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

TTTY1 Gene

testis-specific transcript, Y-linked 1 (non-protein coding)

TTTY6 Gene

testis-specific transcript, Y-linked 6 (non-protein coding)

There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

TTTY7 Gene

testis-specific transcript, Y-linked 7 (non-protein coding)

TTTY4 Gene

testis-specific transcript, Y-linked 4 (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008]

TTTY5 Gene

testis-specific transcript, Y-linked 5 (non-protein coding)

There is a single copy of this gene on chromosome Y at the center of the P3 palindrome. [provided by RefSeq, Jul 2008]

TTTY8 Gene

testis-specific transcript, Y-linked 8 (non-protein coding)

OFD1P12Y Gene

OFD1 pseudogene 12, Y-linked

TSPY19P Gene

testis specific protein, Y-linked 19, pseudogene

HYSP4 Gene

Hypospadias 4, X-linked, susceptibilty to

HSFY1 Gene

heat shock transcription factor, Y-linked 1

This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

HSFY2 Gene

heat shock transcription factor, Y linked 2

This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

PABY Gene

pseudoautosomal boundary region, Y-linked

PABX Gene

pseudoautosomal boundary region, X-linked

TRIM60P5Y Gene

tripartite motif containing 60 pseudogene 5, Y-linked

RP2 Gene

retinitis pigmentosa 2 (X-linked recessive)

The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]

RP6 Gene

retinitis pigmentosa 6 (X-linked recessive)

MRXS17 Gene

Mental retardation, X-linked, syndromic 17

MRXS12 Gene

Mental retardation, X-linked, syndromic 12

MRXS11 Gene

mental retardation, X-linked, syndromic 11

HEY Gene

hairy ears, Y-linked

TSPY9P Gene

testis specific protein, Y-linked 9, pseudogene

NUDT22 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 22

NUDT21 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 21

The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. [provided by RefSeq, Jul 2008]

LOC100652931 Gene

RNA binding motif protein, Y-linked, family 1, member A1 pseudogene

USP9YP22 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 22

USP9YP23 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 23

RBMY2QP Gene

RNA binding motif protein, Y-linked, family 2, member Q pseudogene

OFD1P3Y Gene

OFD1 pseudogene 3, Y-linked

HSFY3P Gene

heat shock transcription factor, Y-linked 3, pseudogene

AUNX1 Gene

auditory neuropathy, X-linked recessive 1

MXRA5Y Gene

matrix-remodelling associated 5, Y-linked, pseudogene

MRX69 Gene

mental retardation, X-linked 69

MRX64 Gene

mental retardation, X-linked 64

MRX65 Gene

mental retardation, X-linked 65

MRX61 Gene

mental retardation, X-linked 61

AGMX2 Gene

agammaglobulinemia, X-linked 2 (with growth hormone deficiency)

ZFX Gene

zinc finger protein, X-linked

This gene on the X chromosome is structurally similar to a related gene on the Y chromosome. It encodes a member of the krueppel C2H2-type zinc-finger protein family. The full-length protein contains an acidic transcriptional activation domain (AD), a nuclear localization sequence (NLS) and a DNA binding domain (DBD) consisting of 13 C2H2-type zinc fingers. Studies in mouse embryonic and adult hematopoietic stem cells showed that this gene was required as a transcriptional regulator for self-renewal of both stem cell types, but it was dispensable for growth and differentiation of their progeny. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2010]

FAM199X Gene

family with sequence similarity 199, X-linked

S12 Gene

surface antigen (X-linked) 3

S11 Gene

surface antigen (X-linked) 2

TSPY10 Gene

testis specific protein, Y-linked 10

TSPY22P Gene

testis specific protein, Y-linked 22, pseudogene

TTTY14 Gene

testis-specific transcript, Y-linked 14 (non-protein coding)

TTTY15 Gene

testis-specific transcript, Y-linked 15 (non-protein coding)

TTTY16 Gene

testis-specific transcript, Y-linked 16 (non-protein coding)

TTTY10 Gene

testis-specific transcript, Y-linked 10 (non-protein coding)

TTTY11 Gene

testis-specific transcript, Y-linked 11 (non-protein coding)

TTTY12 Gene

testis-specific transcript, Y-linked 12 (non-protein coding)

TTTY13 Gene

testis-specific transcript, Y-linked 13 (non-protein coding)

TTTY18 Gene

testis-specific transcript, Y-linked 18 (non-protein coding)

TTTY19 Gene

testis-specific transcript, Y-linked 19 (non-protein coding)

TTTY1B Gene

testis-specific transcript, Y-linked 1B (non-protein coding)

DHRSX Gene

dehydrogenase/reductase (SDR family) X-linked

AMELX Gene

amelogenin, X-linked

This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

AMELY Gene

amelogenin, Y-linked

This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008]

RP24 Gene

retinitis pigmentosa 24 (X-linked recessive)

PRKY Gene

protein kinase, Y-linked, pseudogene

This gene is similar to the protein kinase, X-linked gene in the pseudoautosomal region of the X chromosome. The gene is classified as a transcribed pseudogene because it has lost a coding exon that results in all transcripts being candidates for nonsense-mediated decay (NMD) and unlikely to express a protein. Abnormal recombination between this gene and a related gene on chromosome X is a frequent cause of XX males and XY females. [provided by RefSeq, Jul 2010]

PRKX Gene

protein kinase, X-linked

This gene encodes a serine threonine protein kinase that has similarity to the catalytic subunit of cyclic AMP dependent protein kinases. The encoded protein is developmentally regulated and may be involved in renal epithelial morphogenesis. This protein may also be involved in macrophage and granulocyte maturation. Abnormal recombination between this gene and a related pseudogene on chromosome Y is a frequent cause of sex reversal disorder in XX males and XY females. Pseudogenes of this gene are found on chromosomes X, 15 and Y. [provided by RefSeq, Feb 2010]

RBMY1A1 Gene

RNA binding motif protein, Y-linked, family 1, member A1

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

TRIM60P8Y Gene

tripartite motif containing 60 pseudogene 8, Y-linked

TTTY13C Gene

testis-specific transcript, Y-linked 13C

RBMY2YP Gene

RNA binding motif protein, Y-linked, family 2, member Y pseudogene

CDY11P Gene

chromodomain protein, Y-linked 11 pseudogene

MRXSA Gene

Armfield X-linked mental retardation syndrome

MRXSL Gene

Lubs X-linked mental retardation syndrome

FAM197Y10 Gene

family with sequence similarity 197, Y-linked, member 10

RBMY2FP Gene

RNA binding motif protein, Y-linked, family 2, member F pseudogene

RPY Gene

Retinitis pigmentosa, Y-linked

TMSB4XP3 Gene

thymosin beta 4, X-linked pseudogene 3

TTTY29P Gene

testis-specific transcript, Y-linked 29, pseudogene

COD2 Gene

cone dystrophy 2 (X-linked)

TTTY9A Gene

testis-specific transcript, Y-linked 9A (non-protein coding)

This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

TTTY9B Gene

testis-specific transcript, Y-linked 9B (non-protein coding)

This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

OFD1P11Y Gene

OFD1 pseudogene 11, Y-linked

TSPY14P Gene

testis specific protein, Y-linked 14, pseudogene

RBMY1A3P Gene

RNA binding motif protein, Y-linked, family 1, member A3 pseudogene

CDY19P Gene

chromodomain protein, Y-linked 19 pseudogene

NAALAD2 Gene

N-acetylated alpha-linked acidic dipeptidase 2

This gene is a member of the N-acetylated alpha-linked acidic dipeptidase (NAALADase) gene family. The representative member of this family is the gene encoding human prostate-specific membrane antigen (PSM), which is a marker of prostatic carcinomas and is the first to be shown to possess NAALADase activity. NAALADase cleaves N-acetyl-L-aspartate-L-glutamate (NAAG), which is a neuropeptide expressed both in the central nervous systems and in the periphery and is thought to function as a neurotransmitter. The product of this gene is a type II integral membrane protein. Transient transfection of this gene confers both NAALADase and dipetidyl peptidase IV activities to mammalian cells. This gene is highly expressed in ovary and testis as well as within discrete brain areas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

LOC100420532 Gene

ribosomal protein S4, Y-linked 2 pseudogene

VCX Gene

variable charge, X-linked

This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 10 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008]

VCY Gene

variable charge, Y-linked

The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

RBMY2NP Gene

RNA binding motif protein, Y-linked, family 2, member N pseudogene

ILKAP Gene

integrin-linked kinase-associated serine/threonine phosphatase

The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]

EIF1AX Gene

eukaryotic translation initiation factor 1A, X-linked

This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA. [provided by RefSeq, Jul 2008]

EIF1AY Gene

eukaryotic translation initiation factor 1A, Y-linked

This gene is located on the non-recombining region of the Y chromosome. It encodes a protein related to eukaryotic translation initiation factor 1A (EIF1A), which may function in stabilizing the binding of the initiator Met-tRNA to 40S ribosomal subunits. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PRKXP1 Gene

protein kinase, X-linked, pseudogene 1

PRKXP2 Gene

protein kinase, X-linked, pseudogene 2

ZNF92P1Y Gene

zinc finger protein 92 pseudogene 1, Y-linked

TTTY21B Gene

testis-specific transcript, Y-linked 21B (non-protein coding)

CDY4P Gene

chromodomain protein, Y-linked 4 pseudogene

RBMY1C Gene

RNA binding motif protein, Y-linked, family 1, member C

RBMY1B Gene

RNA binding motif protein, Y-linked, family 1, member B

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

RBMY1F Gene

RNA binding motif protein, Y-linked, family 1, member F

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

RBMY1E Gene

RNA binding motif protein, Y-linked, family 1, member E

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

RBMY1D Gene

RNA binding motif protein, Y-linked, family 1, member D

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

LOC100420509 Gene

X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase pseudogene

PHEX Gene

phosphate regulating endopeptidase homolog, X-linked

The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

NUDT12 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 12

Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008]

NUDT13 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 13

NUDT10 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 10

This gene is a member of the nudix (nucleoside diphosphate linked moiety X)-type motif containing family. The encoded protein is a phosphohydrolase and may regulate the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to the regulation of intracellular trafficking. In some populations putative prostate cancer susceptibility alleles have been identified for this gene. Alternatively spliced transcript variants, which differ only in the 5' UTR, have been found for this gene. [provided by RefSeq, Feb 2015]

NUDT11 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 11

NUDT11 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).[supplied by OMIM, Mar 2008]

NUDT17 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 17

NUDT14 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 14

UDP-glucose (UDPG) acts as the sugar donor in numerous glycosylation reactions, including those involved in the production of glycogen. NUDT14 is a UDPG pyrophosphatase (EC 3.6.1.45) that hydrolyzes UDPG to produce glucose 1-phosphate and UMP (Yagi et al., 2003 [PubMed 12429023]).[supplied by OMIM, Mar 2008]

NUDT15 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 15

NUDT18 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 18

The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This protein contains a Nudix hydrolase domain and hydrolyzes oxidized forms of guanosine and deoxyguanosine diphosphates. [provided by RefSeq, Sep 2012]

NUDT19 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 19

RBMY2VP Gene

RNA binding motif protein, Y-linked, family 2, member V pseudogene

OFD1P4Y Gene

OFD1 pseudogene 4, Y-linked

MRX57 Gene

mental retardation, X-linked 57

MRX56 Gene

mental retardation, X-linked 56

MRX51 Gene

mental retardation, X-linked 51

MRX50 Gene

mental retardation, X-linked 50

MRX53 Gene

mental retardation, X-linked 53

MRX52 Gene

mental retardation, X-linked 52

MCS Gene

Miles-Carpenter X-linked mental retardation syndrome

BPY2 Gene

basic charge, Y-linked, 2

This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the copy outside of the palidromic region. [provided by RefSeq, Jul 2008]

TRIM60P1Y Gene

tripartite motif containing 60 pseudogene 1, Y-linked

TTTY4C Gene

testis-specific transcript, Y-linked 4C (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

TTTY4B Gene

testis-specific transcript, Y-linked 4B (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

CDY6P Gene

chromodomain protein, Y-linked 6 pseudogene

CDY22P Gene

chromodomain protein, Y-linked 22 pseudogene

NUDT15P2 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 2

CSPG4P3Y Gene

chondroitin sulfate proteoglycan 4 pseudogene 3, Y-linked

HPCX2 Gene

Prostate cancer, hereditary, X-linked 2

NUDT21P1 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 21 pseudogene 1

RBMX Gene

RNA binding motif protein, X-linked

This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns. [provided by RefSeq, Sep 2009]

CDY9P Gene

chromodomain protein, Y-linked 9 pseudogene

OFD1P14Y Gene

OFD1 pseudogene 14, Y-linked

USP9YP7 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 7

USP9YP6 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 6

USP9YP9 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 9

USP9YP8 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 8

TSPY13P Gene

testis specific protein, Y-linked 13, pseudogene

CDY23P Gene

chromodomain protein, Y-linked 23 pseudogene

RBMY2CP Gene

RNA binding motif protein, Y-linked, family 2, member C pseudogene

AMCX5 Gene

arthrogryposis, X-linked, type 5

PRS Gene

Prieto X-linked mental retardation syndrome

TTTY24P Gene

testis-specific transcript, Y-linked 24, pseudogene

NUDT8 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 8

NUDT9 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 9

The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

NUDT1 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 1

Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Jul 2008]

NUDT2 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 2

This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and four transcript variants, all encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

NUDT3 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 3

NUDT3 belongs to the MutT, or Nudix, protein family. Nudix proteins act as homeostatic checkpoints at important stages in nucleoside phosphate metabolic pathways, guarding against elevated levels of potentially dangerous intermediates, like 8-oxo-dGTP, which promotes AT-to-CG transversions (Safrany et al., 1998 [PubMed 9822604]).[supplied by OMIM, Feb 2011]

NUDT4 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 4

The protein encoded by this gene regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing. [provided by RefSeq, Jul 2008]

NUDT5 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 5

This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors. [provided by RefSeq, Aug 2013]

NUDT6 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 6

This gene overlaps and lies on the opposite strand from FGF2 gene, and is thought to be the FGF2 antisense gene. The two genes are independently transcribed, and their expression shows an inverse relationship, suggesting that this antisense transcript may regulate FGF2 expression. This gene has also been shown to have hormone-regulatory and antiproliferative actions in the pituitary that are independent of FGF2 expression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

NUDT7 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 7

The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

CDY1B Gene

chromodomain protein, Y-linked, 1B

This gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

RBMX2P4 Gene

RNA binding motif protein, X-linked 2 pseudogene 4

RBMX2P5 Gene

RNA binding motif protein, X-linked 2 pseudogene 5

RBMX2P1 Gene

RNA binding motif protein, X-linked 2 pseudogene 1

RBMX2P2 Gene

RNA binding motif protein, X-linked 2 pseudogene 2

RBMX2P3 Gene

RNA binding motif protein, X-linked 2 pseudogene 3

MRX66 Gene

mental retardation, X-linked 66

MRX67 Gene

mental retardation, X-linked 67

RBMY2KP Gene

RNA binding motif protein, Y-linked, family 2, member K pseudogene

GOLGA2P2Y Gene

golgin A2 pseudogene 2, Y-linked

There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

OFD1P9Y Gene

OFD1 pseudogene 9, Y-linked

HSFY4P Gene

heat shock transcription factor, Y-linked 4, pseudogene

LOC347674 Gene

armadillo repeat containing, X-linked 2 pseudogene

USP27X Gene

ubiquitin specific peptidase 27, X-linked

ZNF736P8Y Gene

zinc finger protein 736 pseudogene 8, Y-linked

ZFY Gene

zinc finger protein, Y-linked

This gene encodes a zinc finger-containing protein that may function as a transcription factor. This gene was once a candidate gene for the testis-determining factor (TDF) and was erroneously referred to as TDF. [provided by RefSeq, Jul 2008]

CCCSX Gene

Cerebral-cerebellar-coloboma syndrome, X-linked

EIF1AXP1 Gene

eukaryotic translation initiation factor 1A, X-linked pseudogene 1

TTTY7B Gene

testis-specific transcript, Y-linked 7B (non-protein coding)

RBMY1KP Gene

RNA binding motif protein, Y-linked, family 1, member K, pseudogene

RBMY2SP Gene

RNA binding motif protein, Y-linked, family 2, member S pseudogene

CDY14P Gene

chromodomain protein, Y-linked 14 pseudogene

OFD1P1Y Gene

OFD1 pseudogene 1, Y-linked

MRX5 Gene

mental retardation, X-linked 5

MRX4 Gene

mental retardation, X-linked 4

MRX7 Gene

mental retardation, X-linked 7

MRX6 Gene

mental retardation, X-linked 6 (Okinawa type)

XGY1 Gene

Xg pseudogene, Y-linked 1

XGY2 Gene

Xg pseudogene, Y-linked 2

FAM197Y3 Gene

family with sequence similarity 197, Y-linked, member 3

TSPY7P Gene

testis specific protein, Y-linked 7, pseudogene

TSPY24P Gene

testis specific protein, Y-linked 24, pseudogene

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]

VCY1B Gene

variable charge, Y-linked 1B

The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

TRIM60P12Y Gene

tripartite motif containing 60 pseudogene 12, Y-linked

MRX8 Gene

mental retardation, X-linked 8

HSFY1P1 Gene

heat shock transcription factor, Y-linked 1 pseudogene 1

CDY13P Gene

chromodomain protein, Y-linked 13 pseudogene

TTTY8B Gene

testis-specific transcript, Y-linked 8B (non-protein coding)

VCX2 Gene

variable charge, X-linked 2

This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes that are expressed exclusively in male germ cells. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. This gene contains two copies of a 30 nt tandem repeat. Deletion of a nearby member of this family was implicated in mental retardation. [provided by RefSeq, Feb 2015]

LOC100128413 Gene

X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase pseudogene

MRX82 Gene

mental retardation, X-linked 82

MRX80 Gene

mental retardation, X-linked 80

MRX81 Gene

mental retardation, X-linked 81

MRX86 Gene

mental retardation, X-linked 86

MRX84 Gene

mental retardation, X-linked 84

MRX88 Gene

Mental retardation, X-linked 88

MRX89 Gene

Mental retardation, X-linked 89

FAM197Y6 Gene

family with sequence similarity 197, Y-linked, member 6

FAM197Y4 Gene

family with sequence similarity 197, Y-linked, member 4, pseudogene

TTTY27P Gene

testis-specific transcript, Y-linked 27, pseudogene

CDY2A Gene

chromodomain protein, Y-linked, 2A

This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq, Jul 2008]

CDY2B Gene

chromodomain protein, Y-linked, 2B

This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq, Jul 2008]

OFD1P13Y Gene

OFD1 pseudogene 13, Y-linked

TSPY16P Gene

testis specific protein, Y-linked 16, pseudogene

SRPX2 Gene

sushi-repeat containing protein, X-linked 2

This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and mental retardation. [provided by RefSeq, May 2010]

CMR3A Gene

cardiomyopathy, restrictive 3A (X-linked)

MRX28 Gene

mental retardation, X-linked 28

SPGFX2 Gene

Spermatogenic failure, X-linked, 2

RBMY2HP Gene

RNA binding motif protein, Y-linked, family 2, member H pseudogene

RBMXP4 Gene

RNA binding motif protein, X-linked pseudogene 4

RBMXP1 Gene

RNA binding motif protein, X-linked pseudogene 1

RBMXP3 Gene

RNA binding motif protein, X-linked pseudogene 3

RBMXP2 Gene

RNA binding motif protein, X-linked pseudogene 2

ARMCX7P Gene

armadillo repeat containing, X-linked 7, pseudogene

CDY8P Gene

chromodomain protein, Y-linked 8 pseudogene

DELXP22.11 Gene

Autism, X-linked, susceptibility to, 4

TRIM60P10Y Gene

tripartite motif containing 60 pseudogene 10, Y-linked

XECD Gene

Corneal dystrophy, endothelial, X-linked

ZNF736P9Y Gene

zinc finger protein 736 pseudogene 9, Y-linked

MRXSCS Gene

Mental retardation, X-linked, syndromic, Chudley-Schwartz type

OFD1P2Y Gene

OFD1 pseudogene 2, Y-linked

MRX73 Gene

mental retardation, X-linked 73

MRX71 Gene

mental retardation, X-linked 71

MRX70 Gene

mental retardation, X-linked 70

MRX75 Gene

mental retardation, X-linked 75

TTTY31P Gene

testis-specific transcript, Y-linked 31, pseudogene

TMSB4XP7 Gene

thymosin beta 4, X-linked pseudogene 7

TMSB4XP5 Gene

thymosin beta 4, X-linked pseudogene 5

TMSB4XP2 Gene

thymosin beta 4, X-linked pseudogene 2

TMSB4XP1 Gene

thymosin beta 4, X-linked pseudogene 1

TMSB4XP8 Gene

thymosin beta 4, X-linked pseudogene 8

RBMX2 Gene

RNA binding motif protein, X-linked 2

TSPY21P Gene

testis specific protein, Y-linked 21, pseudogene

TTTY2B Gene

testis-specific transcript, Y-linked 2B (non-protein coding)

TTTY21 Gene

testis-specific transcript, Y-linked 21 (non-protein coding)

TTTY20 Gene

testis-specific transcript, Y-linked 20 (non-protein coding)

TTTY23 Gene

testis-specific transcript, Y-linked 23 (non-protein coding)

TTTY22 Gene

testis-specific transcript, Y-linked 22 (non-protein coding)

INGX Gene

inhibitor of growth family, X-linked, pseudogene

MRXS7 Gene

mental retardation, X-linked, syndromic 7

TRIM60P11Y Gene

tripartite motif containing 60 pseudogene 11, Y-linked

ILK Gene

integrin-linked kinase

This gene encodes a protein with a kinase-like domain and four ankyrin-like repeats. The encoded protein associates at the cell membrane with the cytoplasmic domain of beta integrins, where it regulates integrin-mediated signal transduction. Activity of this protein is important in the epithelial to mesenchymal transition, and over-expression of this gene is implicated in tumor growth and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

RBMY2XP Gene

RNA binding motif protein, Y-linked, family 2, member X pseudogene

TSPY26P Gene

testis specific protein, Y-linked 26, pseudogene

RBMY2EP Gene

RNA binding motif protein, Y-linked, family 2, member E pseudogene

RBMY3AP Gene

RNA binding motif protein, Y-linked, family 3, member A pseudogene

MRSS Gene

Mental retardation, X-linked, with short stature

CSPG4P1Y Gene

chondroitin sulfate proteoglycan 4 pseudogene 1, Y-linked

There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

OFD1P16Y Gene

OFD1 pseudogene 16, Y-linked

TSPY15P Gene

testis specific protein, Y-linked 15, pseudogene

TRIM60P3Y Gene

tripartite motif containing 60 pseudogene 3, Y-linked

CDY16P Gene

chromodomain protein, Y-linked 16 pseudogene

THCYTX Gene

Thrombocytosis, familial X-linked

MRX77 Gene

mental retardation, X-linked 77

MRX78 Gene

mental retardation, X-linked 78

RBMY2MP Gene

RNA binding motif protein, Y-linked, family 2, member M pseudogene

VCX3B Gene

variable charge, X-linked 3B

This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22, and the Y-linked members are two identical copies of the gene within a palindromic region on chromosome Yq11. The family members share a high degree of sequence identity, with the exception that a 30-nt unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. This family member, as represented by the reference genome allele, contains 14 copies of the 30-nt repeat unit. VCX/Y genes encode small and highly charged proteins containing putative bipartite nuclear localization signals. Although the exact function of this family member has yet to be determined, a role in mRNA stability regulation can be inferred from the ability of the highly similar family member, VCX-A, to inhibit mRNA decapping. A possible role in the regulation of ribosome assembly during spermatogenesis has also been suggested. [provided by RefSeq, Aug 2010]

VCX3A Gene

variable charge, X-linked 3A

This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 8 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008]

SRPX Gene

sushi-repeat containing protein, X-linked

EOGT Gene

EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase

SCAX2 Gene

spinocerebellar ataxia, X-linked 2

SCAX3 Gene

spinocerebellar ataxia, X-linked 3

SCAX4 Gene

spinocerebellar ataxia, X-linked 4

SCAX5 Gene

Spinocerebellar ataxia, X-linked 5

TRIM60P9Y Gene

tripartite motif containing 60 pseudogene 9, Y-linked

PCDH11X Gene

protocadherin 11 X-linked

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Disruption of this gene may be associated with developmental dyslexia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

PCDH11Y Gene

protocadherin 11 Y-linked

This gene belongs to the protocadherin family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing seven cadherin repeats, a transmembrane domain, and a cytoplasmic tail that differs from those of the classical cadherins. This gene is located on the Y chromosome in a block of X/Y homology and is very closely related to its paralog on the X chromosome. The protein is thought to play a role in cell-cell recognition during development of the central nervous system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

CDY7P Gene

chromodomain protein, Y-linked 7 pseudogene

ZNF736P6Y Gene

zinc finger protein 736 pseudogene 6, Y-linked

NUDT19P2 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 2

ZNF736P10Y Gene

zinc finger protein 736 pseudogene 10, Y-linked

USP9YP19 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 19

RBMY2UP Gene

RNA binding motif protein, Y-linked, family 2, member U pseudogene

DDX3X Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked

The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a paralog located in the nonrecombining region of the Y chromosome. Pseudogenes sharing similarity to both this gene and the DDX3Y paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

DDX3Y Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked

The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

OFD1P7Y Gene

OFD1 pseudogene 7, Y-linked

CDY15P Gene

chromodomain protein, Y-linked 15 pseudogene

MAGIX Gene

MAGI family member, X-linked

IDDMX Gene

Diabetes mellitus, insulin-dependent, X-linked, susceptibility to

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]

SNX3P1X Gene

sorting nexin 3 pseudogene 1, X-linked

SNX3P1Y Gene

sorting nexin 3 pseudogene 1, Y-linked

MYP1 Gene

myopia 1 (X-linked)

TMSB4XP6 Gene

thymosin beta 4, X-linked pseudogene 6

TMSB4XP4 Gene

thymosin beta 4, X-linked pseudogene 4

TSPY6P Gene

testis specific protein, Y-linked 6, pseudogene

RPS4X Gene

ribosomal protein S4, X-linked

Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, Y-linked (RPS4Y). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. This gene is not subject to X-inactivation. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

CDY21P Gene

chromodomain protein, Y-linked 21 pseudogene

SMPX Gene

small muscle protein, X-linked

This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011]

USP12PX Gene

ubiquitin specific peptidase 12 pseudogene, X-linked

USP12PY Gene

ubiquitin specific peptidase 12 pseudogene, Y-linked

MRX20 Gene

mental retardation, X-linked 20

MRX23 Gene

mental retardation, X-linked 23

MRX24 Gene

mental retardation, X-linked 24

MRX25 Gene

mental retardation, X-linked 25

MRX26 Gene

mental retardation, X-linked 26

MRX27 Gene

mental retardation, X-linked 27

NUDT16P1 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 16 pseudogene 1

TSPY5P Gene

testis specific protein, Y-linked 5, pseudogene

TTTY30P Gene

testis-specific transcript, Y-linked 30, pseudogene

OFD1P15Y Gene

OFD1 pseudogene 15, Y-linked

FAM197Y7 Gene

family with sequence similarity 197, Y-linked, member 7, pseudogene

TRIM60P4Y Gene

tripartite motif containing 60 pseudogene 4, Y-linked

POMGNT1 Gene

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]

POMGNT2 Gene

protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]

DFNY1 Gene

deafness, Y-linked 1

RBMY2BP Gene

RNA binding motif protein, Y-linked, family 2, member B pseudogene

CSPG4P4Y Gene

chondroitin sulfate proteoglycan 4 pseudogene 4, Y-linked

LOC100630919 Gene

thymosin beta 4, X-linked pseudogene

RFPL4AL1 Gene

ret finger protein-like 4A-like 1

LOC102724187 Gene

uroplakin-3b-like protein-like

LOC101929812 Gene

putative POM121-like protein 1-like

LOC102725182 Gene

putative POM121-like protein 1-like

GNL3LP1 Gene

guanine nucleotide binding protein-like 3 (nucleolar)-like pseudogene 1

TMEFF1 Gene

transmembrane protein with EGF-like and two follistatin-like domains 1

TMEFF2 Gene

transmembrane protein with EGF-like and two follistatin-like domains 2

This gene encodes a member of the tomoregulin family of transmembrane proteins. This protein has been shown to function as both an oncogene and a tumor suppressor depending on the cellular context and may regulate prostate cancer cell invasion. Multiple soluble forms of this protein have been identified that arise from both an alternative splice variant and ectodomain shedding. Additionally, this gene has been found to be hypermethylated in multiple cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

GNL3L Gene

guanine nucleotide binding protein-like 3 (nucleolar)-like

The protein encoded by this gene appears to be a nucleolar GTPase that is essential for ribosomal pre-rRNA processing and cell proliferation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

LIMS3L Gene

LIM and senescent cell antigen-like domains 3-like

LOC100131471 Gene

presenilins-associated rhomboid-like protein, mitochondrial-like

LOC101927789 Gene

putative ubiquitin-like protein FUBI-like protein ENSP00000310146

LOC402329 Gene

ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like

LOC102724995 Gene

putative POM121-like protein 1-like

ITGBL1 Gene

integrin, beta-like 1 (with EGF-like repeat domains)

This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

EDIL3 Gene

EGF-like repeats and discoidin I-like domains 3

The protein encoded by this gene is an integrin ligand. It plays an important role in mediating angiogenesis and may be important in vessel wall remodeling and development. It also influences endothelial cell behavior. [provided by RefSeq, Jul 2008]

LOC728093 Gene

putative POM121-like protein 1-like

LOC105373377 Gene

putative paraneoplastic antigen-like protein 6B-like protein LOC649238

LOC649352 Gene

ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like

LOC729545 Gene

WBSCR19-like protein 5-like

TIE1 Gene

tyrosine kinase with immunoglobulin-like and EGF-like domains 1

This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

LOC105369229 Gene

putative POM121-like protein 1-like

LOC727983 Gene

putative POM121-like protein 1-like

LOC101929599 Gene

putative POM121-like protein 1-like

LOC100131546 Gene

endothelin-converting enzyme-like 1-like

LOC100652833 Gene

putative POM121-like protein 1-like

LOC649201 Gene

paraneoplastic antigen like 6A-like

LOC100506217 Gene

putative POM121-like protein 1-like

LOC100289279 Gene

contactin associated protein-like 3-like

LOC101929573 Gene

putative POM121-like protein 1-like

FAM220CP Gene

putative SIPAR-like protein C9orf51-like

IGFBPL1 Gene

insulin-like growth factor binding protein-like 1

LOC649238 Gene

putative paraneoplastic antigen-like protein 6B-like

LOC392187 Gene

ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like

LOC441098 Gene

putative POM121-like protein 1-like

RASAL1 Gene

RAS protein activator like 1 (GAP1 like)

The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010]

LOC102724994 Gene

putative POM121-like protein 1-like

ARL14EPL Gene

ADP-ribosylation factor-like 14 effector protein-like

LOC100128467 Gene

nuclear distribution protein nudE-like 1-like

LOC102724602 Gene

COMM domain-containing protein 6-like

LOC651959 Gene

FSHD region gene 2-like

CPHL1P Gene

ceruloplasmin and hephaestin-like 1 pseudogene

SPPL3 Gene

signal peptide peptidase like 3

IGF2R Gene

insulin-like growth factor 2 receptor

This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate, although the binding sites for either are located on different segments of the receptor. This receptor functions in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. While the related mouse gene shows exclusive expression from the maternal allele, imprinting of the human gene appears to be polymorphic, with only a minority of individuals showing expression from the maternal allele. [provided by RefSeq, Apr 2013]

LOC101929026 Gene

zinc-activated ligand-gated ion channel-like

USP17L30 Gene

ubiquitin specific peptidase 17-like family member 30

LOC105379427 Gene

zinc finger protein 717-like

LOC649935 Gene

UPF0607 protein ENSP00000381514-like

PHOX2A Gene

paired-like homeobox 2a

The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq, Jul 2008]

PHOX2B Gene

paired-like homeobox 2b

The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. [provided by RefSeq, Jul 2008]

LOC105371469 Gene

endogenous retrovirus group K member 8 Gag polyprotein-like

LOC101927006 Gene

40S ribosomal protein SA-like

LOC101060569 Gene

golgin subfamily A member 6-like protein 1

LOC105369269 Gene

poly(ADP-ribose) glycohydrolase-like

CLK2P1 Gene

CDC-like kinase 2, pseudogene 1

SEZ6L Gene

seizure related 6 homolog (mouse)-like

DMRTB1 Gene

DMRT-like family B with proline-rich C-terminal, 1

LOC105378958 Gene

adhesive plaque matrix protein-like

LOC105378957 Gene

basic salivary proline-rich protein 2-like

LOC105378952 Gene

Krueppel-like factor 17

LOC105378950 Gene

mitogen-activated protein kinase 7-like

LOC105378951 Gene

collagen alpha-1(III) chain-like

LOC101930347 Gene

collagen alpha-2(I) chain-like

LOC102724971 Gene

putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8

RPL36AL Gene

ribosomal protein L36a-like

Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. This gene and the human gene officially named ribosomal protein L36a (RPL36A) encode nearly identical proteins; however, they are distinct genes. Although the name of this gene has been referred to as ribosomal protein L36a (RPL36A), its official name is ribosomal protein L36a-like (RPL36AL). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

LOC102724978 Gene

atherin-like

GALNTL5 Gene

polypeptide N-acetylgalactosaminyltransferase-like 5

GALNTL6 Gene

polypeptide N-acetylgalactosaminyltransferase-like 6

LOC729468 Gene

putative PGM5-like protein 1

LOC101060086 Gene

cell cycle exit and neuronal differentiation protein 1-like

LOC100420096 Gene

IGF-like family receptor 1 pseudogene

FTCDNL1 Gene

formiminotransferase cyclodeaminase N-terminal like

LMBR1L Gene

limb development membrane protein 1-like

TRIML2 Gene

tripartite motif family-like 2

This gene encodes a member of the tri-partite motif (TRIM) family of proteins. This protein may be regulated by the tumor suppressor p53 and may regulate p53 through the enhancement of p53 SUMOylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

TRIML1 Gene

tripartite motif family-like 1

LOC101926982 Gene

protein GVQW1-like

LOC101926986 Gene

glioma tumor suppressor candidate region gene 1 protein-like

DUX4L7 Gene

double homeobox 4 like 7

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]

DUX4L6 Gene

double homeobox 4 like 6

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]

DUX4L5 Gene

double homeobox 4 like 5

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]

DUX4L4 Gene

double homeobox 4 like 4

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]

DUX4L3 Gene

double homeobox 4 like 3

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]

DUX4L2 Gene

double homeobox 4 like 2

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]

DUX4L9 Gene

double homeobox 4 like 9

DUX4L8 Gene

double homeobox 4 like 8

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]

COBLL1 Gene

cordon-bleu WH2 repeat protein-like 1

LOC100421597 Gene

peptidylprolyl isomerase (cyclophilin)-like 4 pseudogene

TIAL1 Gene

TIA1 cytotoxic granule-associated RNA binding protein-like 1

The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. [provided by RefSeq, Jul 2008]

LOC102724345 Gene

ADP-ribosylation factor-like 17A pseudogene

LOC105369146 Gene

cadherin-related family member 4-like

CSHL1 Gene

chorionic somatomammotropin hormone-like 1

The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

REXO1L9P Gene

REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 9, pseudogene

EPB41L1 Gene

erythrocyte membrane protein band 4.1-like 1

Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]

EPB41L3 Gene

erythrocyte membrane protein band 4.1-like 3

EPB41L2 Gene

erythrocyte membrane protein band 4.1-like 2

EPB41L5 Gene

erythrocyte membrane protein band 4.1 like 5

LOC105379705 Gene

olfactory receptor 4F6-like

LOC101927309 Gene

BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like

UFD1L Gene

ubiquitin fusion degradation 1 like (yeast)

The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009]

LOC101059914 Gene

protein FAM218A-like

LOC101059915 Gene

uncharacterized protein CXorf49-like

LOC100422227 Gene

small ubiquitin-like modifier 1 pseudogene

ETV3L Gene

ets variant 3-like

KCP Gene

kielin/chordin-like protein

SIGLEC27P Gene

sialic acid binding Ig-like lectin 27, pseudogene

LOC100129274 Gene

NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) pseudogene

LOC729603 Gene

calcineurin-like EF-hand protein 1 pseudogene

This locus on chromosome 6q25.3 represents a single-exon transcribed pseudogene of the multi-exon calcium binding protein P22 gene which resides on chromosome 15q13.3. This pseudogene is situated within an intron region of the insulin-like growth factor 2 receptor gene (IGF2R). [provided by RefSeq, Jan 2009]

U2AF1L4 Gene

U2 small nuclear RNA auxiliary factor 1-like 4

NDEL1 Gene

nudE neurodevelopment protein 1-like 1

This gene encodes a coiled-coil protein that plays a role in multiple processes including cytoskeletal organization, cell signaling and neuron migration, outgrowth and maintenance. 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 X. [provided by RefSeq, Mar 2012]

PLAC8L1 Gene

PLAC8-like 1

SP140L Gene

SP140 nuclear body protein-like

LOC100287485 Gene

glycine-N-acyltransferase-like 2 pseudogene

LOC105369262 Gene

splicing factor 45-like

LOC105369260 Gene

double homeobox protein 4-like

UNKL Gene

unkempt family zinc finger-like

This gene encodes a RING finger protein that may function in Rac signaling. It can bind to Brg/Brm-associated factor 60b and can promote its ubiquitination. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]

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]

TMC5 Gene

transmembrane channel-like 5

LOC100128238 Gene

KIAA0895-like pseudogene

LOC105373347 Gene

periphilin-1-like

LOC400736 Gene

PRAME family member-like

LOC105379419 Gene

Ig kappa chain V-I region Walker-like

GAS2L1 Gene

growth arrest-specific 2 like 1

This gene encodes a member of the growth arrest-specific 2 protein family. This protein binds components of the cytoskeleton and may be involved in mediating interactions between microtubules and microfilaments. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, Jul 2013]

GAS2L3 Gene

growth arrest-specific 2 like 3

GAS2L2 Gene

growth arrest-specific 2 like 2

The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 2011]

HN1L Gene

hematological and neurological expressed 1-like

LOC105371478 Gene

breakpoint cluster region protein-like

LOC100128958 Gene

ferredoxin 1-like pseudogene

LOC105374156 Gene

protein FAM188B2-like

ESPNL Gene

espin-like

LOC102725029 Gene

leukocyte immunoglobulin-like receptor subfamily B member 3

LOC105369154 Gene

polycystin-1-like

LOC285299 Gene

FSHD region gene 2 family, member C-like

LOC101929349 Gene

activator of 90 kDa heat shock protein ATPase homolog 2-like

NPEPL1 Gene

aminopeptidase-like 1

CLMN Gene

calmin (calponin-like, transmembrane)

CLMP Gene

CXADR-like membrane protein

The CTX (see VSIG2, MIM 606011) family of proteins, including ASAM, are type I transmembrane proteins within the Ig superfamily that localize to junctional complexes between endothelial and epithelial cells and may play a role in cell-cell adhesion (Raschperger et al., 2004 [PubMed 14573622]).[supplied by OMIM, Mar 2008]

ASXL1 Gene

additional sex combs like transcriptional regulator 1

This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

ASXL3 Gene

additional sex combs like transcriptional regulator 3

ASXL2 Gene

additional sex combs like transcriptional regulator 2

ASXL2 is a human homolog of the Drosophila asx gene. Drosophila asx is an enhancer of trithorax (see MIM 159555) and polycomb (see MIM 610231) (ETP) gene that encodes a chromatin protein with dual functions in transcriptional activation and silencing (Katoh and Katoh, 2003 [PubMed 12888926]).[supplied by OMIM, Sep 2009]

LOC152845 Gene

pleiomorphic adenoma gene-like 2 pseudogene

CSNK1A1L Gene

casein kinase 1, alpha 1-like

PDCL Gene

phosducin-like

Phosducin-like protein is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin, a phosphoprotein expressed in retina and pineal gland. Both phosducin-like protein and phosphoducin have been shown to regulate G-protein signaling by binding to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]

LOC101060006 Gene

NANOG neighbor homeobox-like

LOC101060000 Gene

dnaJ homolog subfamily B member 6-like

LOC340268 Gene

C3 and PZP-like, alpha-2-macroglobulin domain containing 8 pseudogene

LOC102724181 Gene

rhophilin-2-like

LOC102724184 Gene

DNA (cytosine-5)-methyltransferase 3-like

LOC105376811 Gene

laminin subunit beta-2-like

LOC102724728 Gene

putative POM121-like protein 1

LOC102724727 Gene

protein FRG1B-like

LOC102724726 Gene

coxsackievirus and adenovirus receptor-like

CRYZL1 Gene

crystallin, zeta (quinone reductase)-like 1

This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely determined. [provided by RefSeq, Jul 2008]

LOC100996316 Gene

ankyrin repeat domain-containing protein 20A2-like

SIPA1L1 Gene

signal-induced proliferation-associated 1 like 1

SIPA1L2 Gene

signal-induced proliferation-associated 1 like 2

IGKDEL Gene

immunoglobulin kappa deleting element or like

SUPV3L1 Gene

suppressor of var1, 3-like 1 (S. cerevisiae)

LMAN1L Gene

lectin, mannose-binding, 1 like

RBPJL Gene

recombination signal binding protein for immunoglobulin kappa J region-like

This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

TMUB1 Gene

transmembrane and ubiquitin-like domain containing 1

TMUB2 Gene

transmembrane and ubiquitin-like domain containing 2

KIAA1324L Gene

KIAA1324-like

INSL5 Gene

insulin-like 5

The protein encoded by this gene contains a classical signature of the insulin superfamily and is highly similar to relaxin 3 (RLN3/INSL7). [provided by RefSeq, Jul 2008]

INSL4 Gene

insulin-like 4 (placenta)

INSL4 encodes the insulin-like 4 protein, a member of the insulin superfamily. INSL4 encodes a precursor that undergoes post-translational cleavage to produce 3 polypeptide chains, A-C, that form tertiary structures composed of either all three chains, or just the A and B chains. Expression of INSL4 products occurs within the early placental cytotrophoblast and syncytiotrophoblast. [provided by RefSeq, Jul 2008]

INSL6 Gene

insulin-like 6

The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization. [provided by RefSeq, Jul 2008]

INSL3 Gene

insulin-like 3 (Leydig cell)

This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

LOC101929818 Gene

killer cell immunoglobulin-like receptor 3DL1

LOC101929815 Gene

D(1B) dopamine receptor-like

CLUL1 Gene

clusterin-like 1 (retinal)

GOLGA6L6 Gene

golgin A6 family-like 6

KLHL10 Gene

kelch-like family member 10

KLHL11 Gene

kelch-like family member 11

KLHL12 Gene

kelch-like family member 12

This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

KLHL13 Gene

kelch-like family member 13

This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and other proteins to form the Cullin 3-based E3 ubiquitin-protein ligase complex. This complex is necessary for proper chromosome segregation and completion of cytokinesis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

KLHL14 Gene

kelch-like family member 14

KLHL15 Gene

kelch-like family member 15

This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs. The encoded protein may be involved in protein ubiquitination and cytoskeletal organization. [provided by RefSeq, Apr 2009]

KLHL17 Gene

kelch-like family member 17

The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010]

KLHL18 Gene

kelch-like family member 18

LOC442161 Gene

ribosomal protein L7-like 1 pseudogene

LOC100130632 Gene

zinc finger protein 530-like

GOLGA6L12P Gene

golgin A6 family-like 12, pseudogene

LOC100652871 Gene

glutathione S-transferase theta-4-like

SLK Gene

STE20-like kinase

SLA Gene

Src-like-adaptor

N4BP2L1 Gene

NEDD4 binding protein 2-like 1

N4BP2L2 Gene

NEDD4 binding protein 2-like 2

FLJ44635 Gene

TPT1-like protein

SGOL1P2 Gene

shugoshin-like 1 (S. pombe) pseudogene 2

LOC101927579 Gene

dynamin-1-like

TPD52L2 Gene

tumor protein D52-like 2

This gene encodes a member of the tumor protein D52-like family. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. Expression of this gene may be a marker for breast cancer and acute lymphoblastic leukemia. 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 12. [provided by RefSeq, Aug 2011]

TPD52L3 Gene

tumor protein D52-like 3

This gene encodes a member of the tumor protein D52-like family of proteins. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. The encoded protein may play a role in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

TPD52L1 Gene

tumor protein D52-like 1

This gene encodes a member of the tumor protein D52 (TPD52) family. The encoded protein contains a coiled-coil domain and may form homo- or hetero-dimer with TPD52 family members. The protein is reported to be involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed, but the full-length nature of some variants has not yet been determined. [provided by RefSeq, Jul 2008]

CAPSL Gene

calcyphosine-like

LOC105375354 Gene

postmeiotic segregation increased 2-like protein 5

LOC100129340 Gene

mitofusin-1-like

MYADML2 Gene

myeloid-associated differentiation marker-like 2

RIMKLA Gene

ribosomal modification protein rimK-like family member A

RIMKLB Gene

ribosomal modification protein rimK-like family member B

LOC100421100 Gene

RNA terminal phosphate cyclase-like 1 pseudogene

PBLD Gene

phenazine biosynthesis-like protein domain containing

LOC105379539 Gene

tyrosine-protein phosphatase non-receptor type 23-like

LOC105379538 Gene

putative HERC2-like protein 3

LOC100506922 Gene

atherin-like

RBBP8NL Gene

RBBP8 N-terminal like

LOC105371176 Gene

Ig heavy chain V-III region VH26-like

DOC2GP Gene

double C2-like domains, gamma, pseudogene

LOC101059990 Gene

dnaJ homolog subfamily B member 6-like

ATXN3L Gene

ataxin 3-like

This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin 3. Mutations in the gene encoding ataxin 3 are associated with Machado-Joseph disease. [provided by RefSeq, Sep 2011]

LOC105369637 Gene

collagen alpha-1(I) chain-like

KIR3DX1 Gene

killer cell immunoglobulin-like receptor, three domains, X1

RD3L Gene

retinal degeneration 3-like

LOC101060089 Gene

cleavage and polyadenylation specificity factor subunit 5-like

CHP1 Gene

calcineurin-like EF-hand protein 1

This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. [provided by RefSeq, Jul 2008]

NUPL1P1 Gene

nucleoporin like 1 pseudogene 1

LOC101929519 Gene

mucin-2-like

RFFL Gene

ring finger and FYVE-like domain containing E3 ubiquitin protein ligase

USP17L3 Gene

ubiquitin specific peptidase 17-like family member 3

USP17L Gene

ubiquitin carboxyl-terminal hydrolase 17-like protein

LOC727930 Gene

chondroitin sulfate proteoglycan 4-like

SKIL Gene

SKI-like proto-oncogene

The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

LOC105378176 Gene

proline-rich receptor-like protein kinase PERK2

HSPA4L Gene

heat shock 70kDa protein 4-like

CPSF3L Gene

cleavage and polyadenylation specific factor 3-like

The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

RFPL4B Gene

ret finger protein-like 4B

RFPL4A Gene

ret finger protein-like 4A

RILPL1 Gene

Rab interacting lysosomal protein-like 1

RILPL2 Gene

Rab interacting lysosomal protein-like 2

This gene encodes a protein that contains a rab-interacting lysosomal protein-like domain. This protein may be involved in regulating lysosome morphology. This protein may also be a target for the Hepatitis C virus and assist in viral replication. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

SEL1L3 Gene

sel-1 suppressor of lin-12-like 3 (C. elegans)

SEL1L2 Gene

sel-1 suppressor of lin-12-like 2 (C. elegans)

FSD1L Gene

fibronectin type III and SPRY domain containing 1-like

LOC105370705 Gene

collagen alpha-2(I) chain-like

LOC101928879 Gene

COMM domain-containing protein 5-like

LOC105379702 Gene

ice-structuring glycoprotein-like

LOC105379704 Gene

CASP-like protein 4A1

NKIRAS2 Gene

NFKB inhibitor interacting Ras-like 2

NKIRAS1 Gene

NFKB inhibitor interacting Ras-like 1

LOC100420166 Gene

ribosomal protein L7-like 1 pseudogene

GATSL3 Gene

GATS protein-like 3

GATSL2 Gene

GATS protein-like 2

LOC105370815 Gene

serine/arginine repetitive matrix protein 3-like

BCL2L15 Gene

BCL2-like 15

BCL2L14 Gene

BCL2-like 14 (apoptosis facilitator)

The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009]

BCL2L11 Gene

BCL2-like 11 (apoptosis facilitator)

The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013]

BCL2L10 Gene

BCL2-like 10 (apoptosis facilitator)

The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. [provided by RefSeq, Jul 2008]

BCL2L13 Gene

BCL2-like 13 (apoptosis facilitator)

This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]

BCL2L12 Gene

BCL2-like 12 (proline rich)

This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

FAM27L Gene

family with sequence similarity 27-like

LOC105375109 Gene

skin secretory protein xP2-like

RYK Gene

receptor-like tyrosine kinase

The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. The encoded protein has a leucine-rich extracellular domain with a WIF-type Wnt binding region, a single transmembrane domain, and an intracellular tyrosine kinase domain. This protein is involved in stimulating Wnt signaling pathways such as the regulation of axon pathfinding. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]

POM121L4P Gene

POM121 transmembrane nucleoporin-like 4 pseudogene

LOC101927923 Gene

small integral membrane protein 12-like

TYRL Gene

tyrosinase-like (pseudogene)

LOC105377133 Gene

basic proline-rich protein-like

LOC105377135 Gene

transcription initiation factor TFIID subunit 4-like

VSNL1 Gene

visinin-like 1

This gene is a member of the visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

STARD3NL Gene

STARD3 N-terminal like

This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [provided by RefSeq, Sep 2011]

ERO1L Gene

ERO1-like (S. cerevisiae)

CBLL1 Gene

Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase

This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011]

LOC105376669 Gene

ret finger protein-like 4A

MTRNR2L8 Gene

MT-RNR2-like 8

NDNL2 Gene

necdin-like 2

The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011]

MTRNR2L3 Gene

MT-RNR2-like 3

MTRNR2L2 Gene

MT-RNR2-like 2

MTRNR2L1 Gene

MT-RNR2-like 1

MTRNR2L7 Gene

MT-RNR2-like 7

MTRNR2L6 Gene

MT-RNR2-like 6

MTRNR2L5 Gene

MT-RNR2-like 5

MTRNR2L4 Gene

MT-RNR2-like 4

FRYL Gene

FRY-like

IGLL1 Gene

immunoglobulin lambda-like polypeptide 1

The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

IGLL5 Gene

immunoglobulin lambda-like polypeptide 5

This gene encodes one of the immunoglobulin lambda-like polypeptides. It is located within the immunoglobulin lambda locus but it does not require somatic rearrangement for expression. The first exon of this gene is unrelated to immunoglobulin variable genes; the second and third exons are the immunoglobulin lambda joining 1 and the immunoglobulin lambda constant 1 gene segments. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

NARFL Gene

nuclear prelamin A recognition factor-like

LOC100132154 Gene

putative ankyrin repeat domain-containing protein 30B-like

LOC100293704 Gene

serine/arginine repetitive matrix protein 3-like

LOC100507606 Gene

ankyrin repeat domain-containing protein 33B-like

DAPL1 Gene

death associated protein-like 1

LOC102723592 Gene

neurofibromin-like

LOC101060324 Gene

espin-like

LOC101060321 Gene

TBC1 domain family member-like

LOC101060328 Gene

collagen alpha-1(I) chain-like

LOC101929895 Gene

eukaryotic translation initiation factor 3 subunit A-like

UBA6 Gene

ubiquitin-like modifier activating enzyme 6

Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008]

UBA5 Gene

ubiquitin-like modifier activating enzyme 5

This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. A pseudogene located on chromosome 1 has also been identified. [provided by RefSeq, Jul 2008]

UBA2 Gene

ubiquitin-like modifier activating enzyme 2

Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 (MIM 613294) and UBA2 form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]

UBA3 Gene

ubiquitin-like modifier activating enzyme 3

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme associates with AppBp1, an amyloid beta precursor protein binding protein, to form a heterodimer, and then the enzyme complex activates NEDD8, a ubiquitin-like protein, which regulates cell division, signaling and embryogenesis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

UBA1 Gene

ubiquitin-like modifier activating enzyme 1

The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]

LOC100506127 Gene

putative uncharacterized protein FLJ37770-like

LOC105373989 Gene

serine/arginine repetitive matrix protein 1-like

RPRML Gene

reprimo-like

LOC100509091 Gene

extracellular matrix protein 2-like

LOC105372585 Gene

formin-like protein 5

LOC100996586 Gene

Ig lambda chain V region 4A-like

LOC101928444 Gene

histone H2B type 1-F/J/L-like

LOC105379840 Gene

bcl-2-binding component 3-like

KATNBL1 Gene

katanin p80 subunit B-like 1

SVOPL Gene

SVOP-like

LOC101927016 Gene

keratin-associated protein 21-1-like

LOC105379252 Gene

coiled-coil domain-containing protein 29-like

LOC105373314 Gene

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1

USP6NL Gene

USP6 N-terminal like

SIGLEC30P Gene

sialic acid binding Ig-like lectin 30, pseudogene

CRKL Gene

v-crk avian sarcoma virus CT10 oncogene homolog-like

This gene encodes a protein kinase containing SH2 and SH3 (src homology) domains which has been shown to activate the RAS and JUN kinase signaling pathways and transform fibroblasts in a RAS-dependent fashion. It is a substrate of the BCR-ABL tyrosine kinase, plays a role in fibroblast transformation by BCR-ABL, and may be oncogenic.[provided by RefSeq, Jan 2009]

LOC100533679 Gene

URI1, prefoldin-like chaperone pseudogene

TSPYL4 Gene

TSPY-like 4

TSPYL5 Gene

TSPY-like 5

TSPYL6 Gene

TSPY-like 6

TSPYL1 Gene

TSPY-like 1

The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009]

TSPYL2 Gene

TSPY-like 2

This gene encodes a member of the testis-specific protein Y-encoded, TSPY-like/SET/nucleosome assembly protein-1 superfamily. The encoded protein is localized to the nucleolus where it functions in chromatin remodeling and as an inhibitor of cell-cycle progression. This protein may play a role in the suppression of tumor growth. [provided by RefSeq, Sep 2009]

LOC101060126 Gene

atrophin-1-like

NUMBL Gene

numb homolog (Drosophila)-like

ARL4P2 Gene

ADP-ribosylation factor-like 4 pseudogene 2

GLYATL1P1 Gene

glycine-N-acyltransferase-like 1 pseudogene 1

LDHAL6FP Gene

lactate dehydrogenase A-like 6F, pseudogene

UBL4A Gene

ubiquitin-like 4A

SIGLEC16 Gene

sialic acid binding Ig-like lectin 16 (gene/pseudogene)

SIGLEC14 Gene

sialic acid binding Ig-like lectin 14

SIGLEC15 Gene

sialic acid binding Ig-like lectin 15

SIGLEC12 Gene

sialic acid binding Ig-like lectin 12 (gene/pseudogene)

Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are a family of cell surface proteins belonging to the immunoglobulin superfamily. They mediate protein-carbohydrate interactions by selectively binding to different sialic acid moieties present on glycolipids and glycoproteins. This gene encodes a member of the SIGLEC3-like subfamily of SIGLECs. Members of this subfamily are characterized by an extracellular V-set immunoglobulin-like domain followed by two C2-set immunoglobulin-like domains, and the cytoplasmic tyrosine-based motifs ITIM and SLAM-like. The encoded protein, upon tyrosine phosphorylation, has been shown to recruit the Src homology 2 domain-containing protein-tyrosine phosphatases SHP1 and SHP2. It has been suggested that the protein is involved in the negative regulation of macrophage signaling by functioning as an inhibitory receptor. This gene is located in a cluster with other SIGLEC3-like genes on 19q13.4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

SIGLEC10 Gene

sialic acid binding Ig-like lectin 10

SIGLECs are members of the immunoglobulin superfamily that are expressed on the cell surface. Most SIGLECs have 1 or more cytoplasmic immune receptor tyrosine-based inhibitory motifs, or ITIMs. SIGLECs are typically expressed on cells of the innate immune system, with the exception of the B-cell expressed SIGLEC6 (MIM 604405).[supplied by OMIM, Jul 2002]

SIGLEC11 Gene

sialic acid binding Ig-like lectin 11

This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. This family member mediates anti-inflammatory and immunosuppressive signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

RPL7L1P4 Gene

ribosomal protein L7-like 1 pseudogene 4

NCKAP5L Gene

NCK-associated protein 5-like

LOC105376955 Gene

nuclear pore membrane glycoprotein 210-like

LOC105377532 Gene

DNA dC->dU-editing enzyme APOBEC-3G-like

LOC391322 Gene

D-dopachrome tautomerase-like

LOC105372013 Gene

basic salivary proline-rich protein 2-like

LOC101929226 Gene

histone H3.3-like

CCL4L1 Gene

chemokine (C-C motif) ligand 4-like 1

This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this family member is similar to the chemokine (C-C motif) ligand 4 product, which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals, where most individuals have one to five copies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]

CCL4L2 Gene

chemokine (C-C motif) ligand 4-like 2

This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this family member is similar to the chemokine (C-C motif) ligand 4 product, which inhibits HIV entry by binding to the cellular receptor CCR5. The copy number of this gene varies among individuals, where most individuals have one to five copies. This gene copy contains a non-consensus splice acceptor site at the 3' terminal exon found in other highly similar gene copies, and it thus uses other alternative splice sites for the 3' terminal exon, resulting in multiple transcript variants. [provided by RefSeq, Apr 2014]

OSGEPL1 Gene

O-sialoglycoprotein endopeptidase-like 1

LOC100130011 Gene

synaptophysin-like 1 pseudogene

FCRL1 Gene

Fc receptor-like 1

This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains three extracellular C2-like immunoglobulin domains, a transmembrane domain and a cytoplasmic domain with two immunoreceptor-tyrosine activation motifs. This protein may play a role in the regulation of cancer cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

FCRL2 Gene

Fc receptor-like 2

This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains one immunoreceptor-tyrosine activation motif and two immunoreceptor-tyrosine inhibitory motifs. This protein may be a prognostic marker for chronic lymphocytic leukemia. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Apr 2009]

FCRL3 Gene

Fc receptor-like 3

This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains immunoreceptor-tyrosine activation motifs and immunoreceptor-tyrosine inhibitory motifs in its cytoplasmic domain and may play a role in regulation of the immune system. Mutations in this gene have been associated with rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. [provided by RefSeq, Jul 2008]

FCRL4 Gene

Fc receptor-like 4

This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains three immune-receptor tyrosine-based inhibitory motifs. This protein may play a role in the function of memory B-cells in the epithelia. Aberrations in the chromosomal region encoding this gene are associated with non-Hodgkin lymphoma and multiple myeloma. [provided by RefSeq, Apr 2009]

FCRL6 Gene

Fc receptor-like 6

FCRLA Gene

Fc receptor-like A

This gene encodes a protein similar to receptors for the Fc fragment of gamma immunoglobulin (IgG). These receptors, referred to as FCGRs, mediate the destruction of IgG-coated antigens and of cells induced by antibodies. This encoded protein is selectively expressed in B cells, and may be involved in their development. This protein may also be involved in the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

FCRLB Gene

Fc receptor-like B

FCRL2 belongs to the Fc receptor family. Fc receptors are involved in phagocytosis, antibody-dependent cell cytotoxicity, immediate hypersensitivity, and transcytosis of immunoglobulins via their ability to bind immunoglobulin (Ig) constant regions (Chikaev et al., 2005 [PubMed 15676285]).[supplied by OMIM, Mar 2008]

LOC101927519 Gene

tubulin beta-7 chain-like

GFRAL Gene

GDNF family receptor alpha like

TREML3P Gene

triggering receptor expressed on myeloid cells-like 3, pseudogene

TREML3 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008]

LOC100130574 Gene

thiosulfate sulfurtransferase (rhodanese)-like domain containing 1 pseudogene

EIF5AL1 Gene

eukaryotic translation initiation factor 5A-like 1

GOLGA6L19 Gene

golgin A6 family-like 19

LOC100421782 Gene

heterogeneous nuclear ribonucleoprotein A1-like 2 pseudogene

SKINTL Gene

Skint-like, pseudogene

SCUBE2 Gene

signal peptide, CUB domain, EGF-like 2

SCUBE3 Gene

signal peptide, CUB domain, EGF-like 3

This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression of this gene in human embryonic kidney cells results in secretion of a glycosylated form of the protein that forms oligomers and tethers to the cell surface. This gene is upregulated in lung cancer tumor tissue compared to healthy tissue and is associated with loss of the epithelial marker E-cadherin and with increased expression of vimentin, a mesenchymal marker. In addition, the protein encoded by this gene is a transforming growth factor beta receptor ligand, and when secreted by cancer cells, it can be cleaved in vitro to release the N-terminal epidermal growth factor-like repeat domain and the C-terminal complement subcomponents C1r/C1s domain. Both the full length protein and C-terminal fragment can bind to the transforming growth factor beta type II receptor to promote the epithelial-mesenchymal transition and tumor angiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

SCUBE1 Gene

signal peptide, CUB domain, EGF-like 1

This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [provided by RefSeq, Oct 2011]

BCORL1 Gene

BCL6 corepressor-like 1

The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

GS1-259H13.2 Gene

transmembrane protein 225-like

PTHLH Gene

parathyroid hormone-like hormone

The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone. [provided by RefSeq, Nov 2013]

DUX4L1 Gene

double homeobox 4 like 1

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]

LOC102725015 Gene

leukocyte immunoglobulin-like receptor subfamily B member 3

LOC105373384 Gene

MORF4 family-associated protein 1-like

LOC105373381 Gene

extracellular matrix protein 2-like

RASL11B Gene

RAS-like, family 11, member B

RASL11B is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM, Nov 2008]

RASL11A Gene

RAS-like, family 11, member A

RASL11A is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM, Nov 2008]

DUX4L17 Gene

double homeobox 4 like 17

DUX4L16 Gene

double homeobox 4 like 16

DUX4L15 Gene

double homeobox 4 like 15

DUX4L14 Gene

double homeobox 4 like 14

DUX4L13 Gene

double homeobox 4 like 13

DUX4L12 Gene

double homeobox 4 like 12

DUX4L11 Gene

double homeobox 4 like 11

DUX4L10 Gene

double homeobox 4 like 10

DUX4L19 Gene

double homeobox 4 like 19

DUX4L18 Gene

double homeobox 4 like 18

LOC102724844 Gene

immunoglobulin superfamily member 3-like

ZGLP1 Gene

zinc finger, GATA-like protein 1

GLB1L2 Gene

galactosidase, beta 1-like 2

GLB1L3 Gene

galactosidase, beta 1-like 3

ARL9 Gene

ADP-ribosylation factor-like 9

ARL9 is a member of the small GTPase protein family with a high degree of similarity to ARF (MIM 103180) proteins of the RAS superfamily.[supplied by OMIM, Nov 2008]

ARL1 Gene

ADP-ribosylation factor-like 1

The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

ARL3 Gene

ADP-ribosylation factor-like 3

ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008]

ARL2 Gene

ADP-ribosylation factor-like 2

This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008]

ARL6 Gene

ADP-ribosylation factor-like 6

The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). Alternative splicing results in multiple transcript variants of this gene. A vision-specific transcript encoding a different protein has been described (PMID: 20333246). [provided by RefSeq, May 2013]

LOC105376432 Gene

protein artemis-like

MLXIPL Gene

MLX interacting protein-like

This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. [provided by RefSeq, Jul 2008]

TXNL1 Gene

thioredoxin-like 1

LOC100509620 Gene

putative aquaporin-7-like protein 3

TAPBPL Gene

TAP binding protein-like

Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antigen processing (TAP; see MIM 170260) in the endoplasmic reticulum (ER). The TAPBP gene is located near the MHC complex on chromosome 6p21.3. TAPBPL is a member of the Ig superfamily that is localized on chromosome 12p13.3, a region somewhat paralogous to the MHC.[supplied by OMIM, Mar 2008]

LOC102725078 Gene

ankyrin repeat domain-containing protein 20A2-like

LOC102725070 Gene

coiled-coil domain-containing protein 29-like

LOC101927751 Gene

E3 ubiquitin-protein ligase RING1-like

NMLFS Gene

Nablus mask-like facial syndrome

LOC100507561 Gene

ankyrin repeat domain-containing protein 33B-like

LOC100420252 Gene

transmembrane channel-like 6 pseudogene

LOC105379472 Gene

serine/arginine repetitive matrix protein 3-like

LOC100431175 Gene

apolipoprotein O-like pseudogene

LOC105379785 Gene

extensin-like

LOC105379786 Gene

putative exonuclease GOR-like protein

ARL13B Gene

ADP-ribosylation factor-like 13B

This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

ARL13A Gene

ADP-ribosylation factor-like 13A

UBALD1 Gene

UBA-like domain containing 1

UBALD2 Gene

UBA-like domain containing 2

FAM220BP Gene

Putative SIPAR-like protein C9orf51

PLCL2 Gene

phospholipase C-like 2

PLCL1 Gene

phospholipase C-like 1

REXO1L6P Gene

REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 6, pseudogene

LOC102723456 Gene

classical arabinogalactan protein 4-like

LOC100131939 Gene

PARK2 co-regulated-like pseudogene

ILVBL Gene

ilvB (bacterial acetolactate synthase)-like

The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008]

LOC101928344 Gene

protein GVQW1-like

OACYLP Gene

O-acyltransferase like, pseudogene

This gene is ancient and exists in archaea, bacteria, fungi, worms, flies, and mammals. The gene has been inactivated by mutation and is nonfunctional in humans and chimpanzees. [provided by RefSeq, Oct 2008]

LOC645626 Gene

coiled-coil domain containing 29-like

APOBEC2 Gene

apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2

UHRF1BP1L Gene

UHRF1 binding protein 1-like

NEIL1 Gene

nei endonuclease VIII-like 1 (E. coli)

This gene is a member of the Nei endonuclease VIII-like gene family which encodes DNA glycosylases. The encoded enzyme participates in the DNA repair pathway by initiating base excision repair by removing damaged bases, primarily oxidized pyrimidines. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

NEIL3 Gene

nei endonuclease VIII-like 3 (E. coli)

NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM, Mar 2008]

NEIL2 Gene

nei endonuclease VIII-like 2 (E. coli)

NEIL2 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226])[supplied by OMIM, Mar 2008]

CLYBL