Name

CMAP Signatures of Differentially Expressed Genes for Small Molecules Dataset

From Connectivity Map

mRNA expression profiles for cell lines following chemical perturbation

GEO Signatures of Differentially Expressed Genes for Small Molecules Dataset

From Gene Expression Omnibus

mRNA expression profiles for cell lines or tissues following small molecule perturbation

LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules Dataset

From LINCS L1000 Connectivity Map

mRNA expression profiles for cell lines following small molecule perturbation

Hub Proteins Protein-Protein Interactions Dataset

From Hub Proteins

sets of proteins interacting with hub proteins

NURSA Protein-Protein Interactions Dataset

From Nuclear Receptor Signaling Atlas

protein-protein interactions inferred from membership in complexes

Pathway Commons Protein-Protein Interactions Dataset

From Pathway Commons

protein-protein interactions from low-throughput or high-throughput studies aggregated by Pathway Commons from the following databases: Reactome, NCI Pathways, PhosphoSite, HumanCyc, HPRD, PANTHER, DIP, BioGRID, IntAct, BIND, Transfac, MiRTarBase, Drugbank, Recon X, Comparative Toxicogenomics Database, and KEGG

Virus MINT Protein-Viral Protein Interactions Dataset

From Virus MINT

interactions between viral and human proteins manually curated from literature

COMPARTMENTS Curated Protein Localization Evidence Scores Dataset

From COMPARTMENTS

protein subcellular localization evidence scores by manual literature curation

COMPARTMENTS Experimental Protein Localization Evidence Scores Dataset

From COMPARTMENTS

protein subcellular localization evidence scores by integrating experimental data

COMPARTMENTS Text-mining Protein Localization Evidence Scores Dataset

From COMPARTMENTS

gene-cellular compartment co-occurrence scores from text-mining biomedical abstracts

CORUM Protein Complexes Dataset

From CORUM

proteins participating in complexes by manual literature curation

Guide to Pharmacology Protein Ligands of Receptors Dataset

From Guide to Pharmacology

ligand-receptor interactions curated by experts

HPA Tissue Protein Expression Profiles Dataset

From Human Protein Atlas

semiquantitative protein expression profiles for tissues

HPM Cell Type and Tissue Protein Expression Profiles Dataset

From Human Proteome Map

protein expression profiles for tissues and cell types

InterPro Predicted Protein Domain Annotations Dataset

From InterPro

protein domains predicted for gene products based on sequence similarity to known domain signatures

LOCATE Curated Protein Localization Annotations Dataset

From LOCATE

subcellular localization of proteins from low-throughput or high-throughput protein localization assays

NURSA Protein Complexes Dataset

From Nuclear Receptor Signaling Atlas

proteins identified in complexes isolated from cultured cells

ProteomicsDB Cell Type and Tissue Protein Expression Profiles Dataset

From Proteomics Database

protein expression profiles for tissues and cell types reprocessed from many proteomics datasets

SILAC Phosphoproteomics Signatures of Differentially Phosphorylated Proteins for Protein Ligands Dataset

From SILAC Phosphoproteomics

phosphorylation levels of proteins in cell lines following ligand treatment

TISSUES Curated Tissue Protein Expression Evidence Scores Dataset

From TISSUES

protein tissue expression evidence scores by manual literature curation

TISSUES Experimental Tissue Protein Expression Evidence Scores Dataset

From TISSUES

protein tissue expression evidence scores by integrating experimental data

TISSUES Text-mining Tissue Protein Expression Evidence Scores Dataset

From TISSUES

gene-tissue co-occurrence scores from text-mining biomedical abstracts

Virus MINT Protein-Virus Interactions Dataset

From Virus MINT

interactions between viruses and human proteins manually curated from literature

LOCATE Predicted Protein Localization Annotations Dataset

From LOCATE

subcellular localization of proteins by sequence similarity to localization sequences

HPA Cell Line Gene Expression Profiles Dataset

From Human Protein Atlas

mRNA expression profiles for cell lines

HPA Tissue Gene Expression Profiles Dataset

From Human Protein Atlas

mRNA expression profiles for tissues

HPA Tissue Sample Gene Expression Profiles Dataset

From Human Protein Atlas

mRNA expression profiles for tissue samples

RNU7-19P Gene

RNA, U7 small nuclear 19 pseudogene

RNU6-19P Gene

RNA, U6 small nuclear 19, pseudogene

RNU1-19P Gene

RNA, U1 small nuclear 19, pseudogene

LOC101927923 Gene

small integral membrane protein 12-like

SMIM13 Gene

small integral membrane protein 13

SMIM12 Gene

small integral membrane protein 12

SMIM11 Gene

small integral membrane protein 11

SMIM10 Gene

small integral membrane protein 10

SMIM17 Gene

small integral membrane protein 17

SMIM15 Gene

small integral membrane protein 15

SMIM14 Gene

small integral membrane protein 14

SMIM19 Gene

small integral membrane protein 19

SMIM18 Gene

small integral membrane protein 18

SMIM23 Gene

small integral membrane protein 23

SMIM20 Gene

small integral membrane protein 20

SMIM21 Gene

small integral membrane protein 21

SMIM24 Gene

small integral membrane protein 24

SMIM11P1 Gene

small integral membrane protein 11 pseudogene 1

SMIM22 Gene

small integral membrane protein 22

SMIM2 Gene

small integral membrane protein 2

SMIM1 Gene

small integral membrane protein 1 (Vel blood group)

This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]

SMIM10L1 Gene

small integral membrane protein 10 like 1

SMIM12P1 Gene

small integral membrane protein 12 pseudogene 1

SMIM3 Gene

small integral membrane protein 3

SMIM7 Gene

small integral membrane protein 7

SMIM6 Gene

small integral membrane protein 6

SMIM5 Gene

small integral membrane protein 5

SMIM4 Gene

small integral membrane protein 4

SMIM9 Gene

small integral membrane protein 9

SMIM8 Gene

small integral membrane protein 8

SMIM10L2B Gene

small integral membrane protein 10 like 2B

LOC100130842 Gene

small integral membrane protein 7 pseudogene

SMIM10L2A Gene

small integral membrane protein 10 like 2A

ITM2BP1 Gene

integral membrane protein 2B pseudogene 1

ITM2C Gene

integral membrane protein 2C

ITM2A Gene

integral membrane protein 2A

This gene encodes a type II membrane protein that belongs to the ITM2 family. Studies in mouse suggest that it may be involved in osteo- and chondrogenic differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

ITM2B Gene

integral membrane protein 2B

Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009]

SDHC Gene

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

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

SDHD Gene

succinate dehydrogenase complex, subunit D, integral membrane protein

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

LOC642502 Gene

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

GOLIM4 Gene

golgi integral membrane protein 4

The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi-resident protein. It may process proteins synthesized in the rough endoplasmic reticulum and assist in the transport of protein cargo through the Golgi apparatus. [provided by RefSeq, Jul 2008]

SDHDP7 Gene

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

SDHDP6 Gene

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

SDHDP5 Gene

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

SDHDP4 Gene

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

SDHDP3 Gene

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

SDHDP2 Gene

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

SDHDP1 Gene

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

LOC166994 Gene

integral membrane glycoprotein-like

GINM1 Gene

glycoprotein integral membrane 1

LOC646652 Gene

integral membrane glycoprotein-like

VAPB Gene

VAMP (vesicle-associated membrane protein)-associated protein B and C

The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008]

VAPA Gene

VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa

The protein encoded by this gene is a type IV membrane protein. It is present in the plasma membrane and intracellular vesicles. It may also be associated with the cytoskeleton. This protein may function in vesicle trafficking, membrane fusion, protein complex assembly and cell motility. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

VMP1 Gene

vacuole membrane protein 1

LMBR1L Gene

limb development membrane protein 1-like

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

LOC100421257 Gene

lysosomal-associated membrane protein 1 pseudogene

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]

AMER1 Gene

APC membrane recruitment protein 1

The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]

JKAMPP1 Gene

JNK1/MAPK8-associated membrane protein pseudogene 1

LSAMP Gene

limbic system-associated membrane protein

The protein encoded by this gene is a neuronal surface glycoprotein found in cortical and subcortical regions of the limbic system. During development of the limbic system, this encoded protein is found on the surface of axonal membranes and growth cones, where it acts as a selective homophilic adhesion molecule, and guides the development of specific patterns of neuronal connections. [provided by RefSeq, Jul 2008]

MARCH10 Gene

membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase

MARCH10 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010]

BASP1 Gene

brain abundant, membrane attached signal protein 1

This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012]

LSMEM1 Gene

leucine-rich single-pass membrane protein 1

LSMEM2 Gene

leucine-rich single-pass membrane protein 2

BASP1P1 Gene

brain abundant, membrane attached signal protein 1 pseudogene 1

EMP2 Gene

epithelial membrane protein 2

This gene encodes a tetraspan protein of the PMP22/EMP family. The encoded protein regulates cell membrane composition. It has been associated with various functions including endocytosis, cell signaling, cell proliferation, cell migration, cell adhesion, cell death, cholesterol homeostasis, urinary albumin excretion, and embryo implantation. It is known to negatively regulate caveolin-1, a scaffolding protein which is the main component of the caveolae plasma membrane invaginations found in most cell types. Through activation of PTK2 it positively regulates vascular endothelial growth factor A. It also modulates the function of specific integrin isomers in the plasma membrane. Up-regulation of this gene has been linked to cancer progression in multiple different tissues. Mutations in this gene have been associated with nephrotic syndrome type 10 (NPHS10). [provided by RefSeq, Mar 2015]

EMP3 Gene

epithelial membrane protein 3

EMP1 Gene

epithelial membrane protein 1

SMCO4P1 Gene

single-pass membrane protein with coiled-coil domains 4 pseudogene 1

ERMAP Gene

erythroblast membrane-associated protein (Scianna blood group)

The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

NRM Gene

nurim (nuclear envelope membrane protein)

The protein encoded by this gene contains transmembrane domains and resides within the inner nuclear membrane, where it is tightly associated with the nucleus. This protein shares homology with isoprenylcysteine carboxymethyltransferase enzymes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

PXMP2 Gene

peroxisomal membrane protein 2, 22kDa

PXMP4 Gene

peroxisomal membrane protein 4, 24kDa

MPV17L Gene

MPV17 mitochondrial membrane protein-like

LRMP Gene

lymphoid-restricted membrane protein

The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

MPV17L2 Gene

MPV17 mitochondrial membrane protein-like 2

EPB41L4B Gene

erythrocyte membrane protein band 4.1 like 4B

EPB41L4A Gene

erythrocyte membrane protein band 4.1 like 4A

Members of the band 4.1 protein superfamily, including EPB41L4A, are thought to regulate the interaction between the cytoskeleton and plasma membrane (Ishiguro et al., 2000 [PubMed 10874211]).[supplied by OMIM, Jul 2008]

LAMP1P1 Gene

lysosomal-associated membrane protein 1 pseudogene 1

MPV17 Gene

MpV17 mitochondrial inner membrane protein

This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008]

AMER2 Gene

APC membrane recruitment protein 2

AMER3 Gene

APC membrane recruitment protein 3

ROM1 Gene

retinal outer segment membrane protein 1

This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq, Jul 2008]

LAMP5 Gene

lysosomal-associated membrane protein family, member 5

LAMP3 Gene

lysosomal-associated membrane protein 3

Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010]

LAMP2 Gene

lysosomal-associated membrane protein 2

The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]

LAMP1 Gene

lysosomal-associated membrane protein 1

The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may also play a role in tumor cell metastasis. [provided by RefSeq, Jul 2008]

TRAM1L1 Gene

translocation associated membrane protein 1-like 1

GLMP Gene

glycosylated lysosomal membrane protein

LOC645177 Gene

lymphoid-restricted membrane protein-like

SMCO3 Gene

single-pass membrane protein with coiled-coil domains 3

SMCO2 Gene

single-pass membrane protein with coiled-coil domains 2

SMCO1 Gene

single-pass membrane protein with coiled-coil domains 1

SMCO4 Gene

single-pass membrane protein with coiled-coil domains 4

EMC9 Gene

ER membrane protein complex subunit 9

EMC8 Gene

ER membrane protein complex subunit 8

EMC3 Gene

ER membrane protein complex subunit 3

EMC2 Gene

ER membrane protein complex subunit 2

EMC1 Gene

ER membrane protein complex subunit 1

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

EMC7 Gene

ER membrane protein complex subunit 7

EMC6 Gene

ER membrane protein complex subunit 6

EMC4 Gene

ER membrane protein complex subunit 4

MPP3 Gene

membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)

This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq, Jul 2008]

MPP2 Gene

membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)

Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. [provided by RefSeq, Jul 2008]

MPP1 Gene

membrane protein, palmitoylated 1, 55kDa

This gene encodes the prototype of the membrane-associated guanylate kinase (MAGUK) family proteins. MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intercellular junctions. The encoded protein is an extensively palmitoylated membrane phosphoprotein containing a PDZ domain, a Src homology 3 (SH3) motif, and a guanylate kinase domain. This gene product interacts with various cytoskeletal proteins and cell junctional proteins in different tissue and cell types, and may be involved in the regulation of cell shape, hair cell development, neural patterning of the retina, and apico-basal polarity and tumor suppression pathways in non-erythroid cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

MPP7 Gene

membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)

Membrane-associated guanylate kinases (MAGUKs) are important adaptor proteins involved in the assembly of protein complexes at sites of cell-cell contact. They are found in synapses, adherens junctions, and tight junctions. All MAGUKs contain at least 1 PDZ domain, an SH3 domain, and a GUK domain, and many contain 1 or 2 L27 domains, which are involved in multimerization of MAGUKs. MPP7 belongs to the p55 stardust subfamily of MAGUKs, which is named for a Drosophila gene required for establishment of cell polarity in the developing fly embryo (Bohl et al., 2007 [PubMed 17237226]).[supplied by OMIM, Mar 2008]

MPP6 Gene

membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)

Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008]

MPP5 Gene

membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)

This gene encodes a member of the p55-like subfamily of the membrane-associated guanylate kinase (MAGUK) gene superfamily. The encoded protein participates in the polarization of differentiating cells, has been shown to regulate myelinating Schwann cells (PMID: 20237282), and is one of the components of the Crumbs complex in the retina. Mice which express lower levels of the orthologous protein have retinal degeneration and impaired vision (PMID: 22114289). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

MPP4 Gene

membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)

This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

SDIM1 Gene

stress responsive DNAJB4 interacting membrane protein 1

SMDT1 Gene

single-pass membrane protein with aspartate-rich tail 1

JKAMP Gene

JNK1/MAPK8-associated membrane protein

BET1 Gene

Bet1 golgi vesicular membrane trafficking protein

This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

LMBR1 Gene

limb development membrane protein 1

This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008]

TRAM1 Gene

translocation associated membrane protein 1

This gene encodes a multi-pass membrane protein that is part of the mammalian endoplasmic reticulum. The encoded protein influences glycosylation and facilitates the translocation of secretory proteins across the endoplasmic reticulum membrane by regulating which domains of the nascent polypeptide chain are visible to the cytosol during a translocational pause. [provided by RefSeq, Oct 2009]

TRAM2 Gene

translocation associated membrane protein 2

TRAM2 is a component of the translocon, a gated macromolecular channel that controls the posttranslational processing of nascent secretory and membrane proteins at the endoplasmic reticulum (ER) membrane.[supplied by OMIM, Jul 2004]

VAMP1 Gene

vesicle-associated membrane protein 1 (synaptobrevin 1)

Synapotobrevins, syntaxins, and the synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Mutations in this gene are associated with autosomal dominant spastic ataxia 1. Multiple alternative splice variants have been described, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2014]

VAMP3 Gene

vesicle-associated membrane protein 3

Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this gene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. [provided by RefSeq, Jul 2008]

VAMP2 Gene

vesicle-associated membrane protein 2 (synaptobrevin 2)

The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. [provided by RefSeq, Jul 2008]

VAMP5 Gene

vesicle-associated membrane protein 5

Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of vesicles and cell membranes. The VAMP5 gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family and the SNARE superfamily. This VAMP family member may participate in vesicle trafficking events that are associated with myogenesis. [provided by RefSeq, Jul 2008]

VAMP4 Gene

vesicle-associated membrane protein 4

Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. This protein may play a role in trans-Golgi network-to-endosome transport. [provided by RefSeq, Jul 2008]

VAMP7 Gene

vesicle-associated membrane protein 7

This gene encodes a transmembrane protein that is a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. The encoded protein localizes to late endosomes and lysosomes and is involved in the fusion of transport vesicles to their target membranes. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]

VAMP8 Gene

vesicle-associated membrane protein 8

This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010]

LIM2 Gene

lens intrinsic membrane protein 2, 19kDa

This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

LOC646506 Gene

lysosomal-associated membrane protein 1 pseudogene

LOC101060164 Gene

secretory carrier membrane protein 1 pseudogene

SSMEM1 Gene

serine-rich single-pass membrane protein 1

MARCH4 Gene

membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase

MARCH4 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH4 reduces surface accumulation of several membrane glycoproteins by directing them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]

MARCH7 Gene

membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase

MARCH7 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Mar 2010]

MARCH6 Gene

membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase

This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

MARCH1 Gene

membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase

MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH1 downregulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and other glycoproteins by directing them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De Gassart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010]

MARCH3 Gene

membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase

This gene encodes a member of the membrane-associated RING-CH (MARCH) family. The encoded protein is an E3 ubiquitin-protein ligase that may be involved in regulation of the endosomal transport pathway. [provided by RefSeq, Mar 2013]

MARCH2 Gene

membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase

MARCH2 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH2 reduces surface accumulation of several glycoproteins and appears to regulate early endosome-to-trans-Golgi network (TGN) trafficking (Bartee et al., 2004 [PubMed 14722266]; Nakamura et al., 2005 [PubMed 15689499]).[supplied by OMIM, Mar 2010]

MARCH8 Gene

membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase

MARCH8 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH8 induces the internalization of several membrane glycoproteins (Goto et al., 2003 [PubMed 12582153]; Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]

EPB42 Gene

erythrocyte membrane protein band 4.2

Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

EPB41 Gene

erythrocyte membrane protein band 4.1

The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]

PKMYT1 Gene

protein kinase, membrane associated tyrosine/threonine 1

This gene encodes a member of the serine/threonine protein kinase family. The encoded protein is a membrane-associated kinase that negatively regulates the G2/M transition of the cell cycle by phosphorylating and inactivating cyclin-dependent kinase 1. The activity of the encoded protein is regulated by polo-like kinase 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

EMC10 Gene

ER membrane protein complex subunit 10

BET1P1 Gene

Bet1 golgi vesicular membrane trafficking protein pseudogene 1

LOC391359 Gene

epithelial membrane protein 2 pseudogene

IMMT Gene

inner membrane protein, mitochondrial

LOC100419980 Gene

golgi membrane protein 1 pseudogene

IMMTP1 Gene

inner membrane protein, mitochondrial (mitofilin) pseudogene 1

MCEMP1 Gene

mast cell-expressed membrane protein 1

This gene encodes a single-pass transmembrane protein. Based on its expression pattern, it is speculated to be involved in regulating mast cell differentiation or immune responses. [provided by RefSeq, Jul 2008]

PITPNM1 Gene

phosphatidylinositol transfer protein, membrane-associated 1

PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]

PITPNM2 Gene

phosphatidylinositol transfer protein, membrane-associated 2

PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]

SLC25A17 Gene

solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17

This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

APMAP Gene

adipocyte plasma membrane associated protein

SCIMP Gene

SLP adaptor and CSK interacting membrane protein

This gene encodes a transmembrane adaptor protein that is expressed in antigen-presenting cells and is localized in the immunologic synapse. The encoded protein is involved in major histocompatibility complex class II signal transduction and immune synapse formation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

MFRP Gene

membrane frizzled-related protein

This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]

SCAMP4 Gene

secretory carrier membrane protein 4

Secretory carrier membrane proteins (SCAMPs) are widely distributed integral membrane proteins implicated in membrane trafficking. Most SCAMPs (e.g., SCAMP1; MIM 606911) have N-terminal cytoplasmic NPF (arg-pro-phe) repeats, 4 central transmembrane regions, and a short C-terminal cytoplasmic tail. These SCAMPs likely have a role in endocytosis that is mediated by their NPF repeats. Other SCAMPs, such as SCAMP4, lack the NPF repeats and are therefore unlikely to function in endocytosis (summary by Fernandez-Chacon and Sudhof, 2000 [PubMed 11050114]).[supplied by OMIM, Feb 2011]

SCAMP5 Gene

secretory carrier membrane protein 5

SCAMP2 Gene

secretory carrier membrane protein 2

This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. [provided by RefSeq, Jul 2008]

SCAMP3 Gene

secretory carrier membrane protein 3

This gene encodes an integral membrane protein that belongs to the secretory carrier membrane protein family. The encoded protein functions as a carrier to the cell surface in post-golgi recycling pathways. This protein is also involved in protein trafficking in endosomal pathways. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]

SCAMP1 Gene

secretory carrier membrane protein 1

This gene product belongs to the SCAMP family of proteins, which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that these protein family members may function at the same site during vesicular transport rather than in separate pathways. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

GOLM1 Gene

golgi membrane protein 1

The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi transmembrane protein. It processes proteins synthesized in the rough endoplasmic reticulum and assists in the transport of protein cargo through the Golgi apparatus. The expression of this gene has been observed to be upregulated in response to viral infection. Alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Sep 2009]

BET1L Gene

Bet1 golgi vesicular membrane trafficking protein-like

SELP Gene

selectin P (granule membrane protein 140kDa, antigen CD62)

This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008]

TIMM44 Gene

translocase of inner mitochondrial membrane 44 homolog (yeast)

VMO1 Gene

vitelline membrane outer layer 1 homolog (chicken)

SMPD4 Gene

sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)

Sphingomyelinases (EC 3.1.4.12), such as SMPD4, catalyze the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (Krut et al., 2006 [PubMed 16517606]).[supplied by OMIM, Mar 2008]

SMPD3 Gene

sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)

SMPD2 Gene

sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)

This gene encodes a protein which was initially identified as a sphingomyelinase based on sequence similarity between bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that its biological function is less likely to be as a sphingomyelinase and instead as a lysophospholipase. [provided by RefSeq, Oct 2009]

LOC728452 Gene

POM121 membrane glycoprotein (rat) pseudogene

MARCH11 Gene

membrane-associated ring finger (C3HC4) 11

MARCH11 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). These enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their intracellular transport. March11 appears to have a role in ubiquitin-mediated protein sorting in the trans-Golgi network (TGN)-multivesicular body (MVB) transport pathway (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010]

LOC105376955 Gene

nuclear pore membrane glycoprotein 210-like

LOC728526 Gene

POM121 membrane glycoprotein (rat) pseudogene

LOC729057 Gene

translocase of outer mitochondrial membrane 40 homolog (yeast) pseudogene

TIMM8BP1 Gene

translocase of inner mitochondrial membrane 8B pseudogene 1

LOC728488 Gene

POM121 membrane glycoprotein (rat) pseudogene

IMMP2L Gene

IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)

This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene. [provided by RefSeq, Sep 2011]

LOC768086 Gene

trehalase (brush-border membrane glycoprotein) pseudogene

MS4A8 Gene

membrane-spanning 4-domains, subfamily A, member 8

This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008]

MS4A7 Gene

membrane-spanning 4-domains, subfamily A, member 7

This gene encodes a member of the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

MS4A2 Gene

membrane-spanning 4-domains, subfamily A, member 2

The allergic response involves the binding of allergen to receptor-bound IgE followed by cell activation and the release of mediators responsible for the manifestations of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-linked gamma chains, is found on the surface of mast cells and basophils. This gene encodes the beta subunit of the high affinity IgE receptor which is a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member is localized to 11q12, among a cluster of membrane-spanning 4A gene family members. Alternative splicing results in multiple transcript variants encoding distinct proteins. Additional transcript variants have been described but require experimental validation. [provided by RefSeq, Mar 2012]

MS4A1 Gene

membrane-spanning 4-domains, subfamily A, member 1

This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008]

TIMM17BP1 Gene

translocase of inner mitochondrial membrane 17 homolog B (yeast) pseudogene 1

TREH Gene

trehalase (brush-border membrane glycoprotein)

This gene encodes an enzyme that hydrolyses trehalose, a disaccharide formed from two glucose molecules found mainly in fungi, plants, and insects. A partial duplication of this gene is located adjacent to this locus on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

RIMS4 Gene

regulating synaptic membrane exocytosis 4

RIMS1 Gene

regulating synaptic membrane exocytosis 1

The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]

RIMS2 Gene

regulating synaptic membrane exocytosis 2

RIMS3 Gene

regulating synaptic membrane exocytosis 3

FIS1 Gene

fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)

The balance between fission and fusion regulates the morphology of mitochondria. TTC11 is a component of a mitochondrial complex that promotes mitochondrial fission (James et al., 2003 [PubMed 12783892]).[supplied by OMIM, Mar 2008]

LOC728575 Gene

POM121 membrane glycoprotein (rat) pseudogene

TOMM40 Gene

translocase of outer mitochondrial membrane 40 homolog (yeast)

TOMM40 is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for protein import into mitochondria (Humphries et al., 2005 [PubMed 15644312]).[supplied by OMIM, May 2008]

GP2 Gene

glycoprotein 2 (zymogen granule membrane)

This gene encodes an integral membrane protein that is secreted from intracellular zymogen granules and associates with the plasma membrane via glycosylphosphatidylinositol (GPI) linkage. The encoded protein binds pathogens such as enterobacteria, thereby playing an important role in the innate immune response. The C-terminus of this protein is related to the C-terminus of the protein encoded by the neighboring gene, uromodulin (UMOD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

MBOAT2 Gene

membrane bound O-acyltransferase domain containing 2

MBOAT1 Gene

membrane bound O-acyltransferase domain containing 1

This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]

MBOAT7 Gene

membrane bound O-acyltransferase domain containing 7

This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

MBOAT4 Gene

membrane bound O-acyltransferase domain containing 4

PAG1 Gene

phosphoprotein membrane anchor with glycosphingolipid microdomains 1

The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. [provided by RefSeq, Jul 2008]

MME Gene

membrane metallo-endopeptidase

This gene encodes a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). This protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. It is a glycoprotein that is particularly abundant in kidney, where it is present on the brush border of proximal tubules and on glomerular epithelium. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. This gene, which encodes a 100-kD type II transmembrane glycoprotein, exists in a single copy of greater than 45 kb. The 5' untranslated region of this gene is alternatively spliced, resulting in four separate mRNA transcripts. The coding region is not affected by alternative splicing. [provided by RefSeq, Jul 2008]

SEMA7A Gene

semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)

The protein encoded by this gene binds to cell surfaces through a glycosylphosphatidylinositol (GPI) linkage. The encoded glycoprotein is found on activated lymphocytes and erythrocytes. This protein may be involved in immunomodulatory and neuronal processes. Defects in this gene can result in loss of bone mineral density (BMD). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]

LOC728540 Gene

POM121 membrane glycoprotein (rat) pseudogene

TIMM10B Gene

translocase of inner mitochondrial membrane 10 homolog B (yeast)

FXC1, or TIMM10B, belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]

LOC340089 Gene

POM121 membrane glycoprotein (rat) pseudogene

TOMM40L Gene

translocase of outer mitochondrial membrane 40 homolog (yeast)-like

TIMM50 Gene

translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)

PRIMA1 Gene

proline rich membrane anchor 1

The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008]

MINOS1P4 Gene

mitochondrial inner membrane organizing system 1 pseudogene 4

TOMM6 Gene

translocase of outer mitochondrial membrane 6 homolog (yeast)

TOMM7 Gene

translocase of outer mitochondrial membrane 7 homolog (yeast)

This gene encodes a subunit of the translocase of the outer mitochondrial membrane. The encoded protein regulates the assembly and stability of the translocase complex. [provided by RefSeq, Oct 2012]

TOMM5 Gene

translocase of outer mitochondrial membrane 5 homolog (yeast)

MMEL1 Gene

membrane metallo-endopeptidase-like 1

The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. [provided by RefSeq, Jul 2008]

BAMBI Gene

BMP and activin membrane-bound inhibitor

This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008]

MMP14 Gene

matrix metallopeptidase 14 (membrane-inserted)

Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008]

MMP15 Gene

matrix metallopeptidase 15 (membrane-inserted)

Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. [provided by RefSeq, Jul 2008]

MMP16 Gene

matrix metallopeptidase 16 (membrane-inserted)

Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The encoded protein activates MMP2 by cleavage. This gene was once referred to as MT-MMP2, but was renamed as MT-MMP3 or MMP16. [provided by RefSeq, Oct 2010]

MMP17 Gene

matrix metallopeptidase 17 (membrane-inserted)

Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene is considered a member of the membrane-type MMP (MT-MMP) subfamily. However, this protein is unique among the MT-MMP's in that it is a GPI-anchored protein rather than a transmembrane protein. The protein activates MMP-2 by cleavage. [provided by RefSeq, Jul 2008]

LOC442382 Gene

ATPase, Ca++ transporting, plasma membrane 1 pseudogene

ANPEP Gene

alanyl (membrane) aminopeptidase

Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. Human aminopeptidase N is a receptor for one strain of human coronavirus that is an important cause of upper respiratory tract infections. Defects in this gene appear to be a cause of various types of leukemia or lymphoma. [provided by RefSeq, Jul 2008]

MS4A10 Gene

membrane-spanning 4-domains, subfamily A, member 10

Most MS4A genes, including MS4A10, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004]

MS4A12 Gene

membrane-spanning 4-domains, subfamily A, member 12

The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

MS4A6A Gene

membrane-spanning 4-domains, subfamily A, member 6A

This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]

TOMM20 Gene

translocase of outer mitochondrial membrane 20 homolog (yeast)

TOMM22 Gene

translocase of outer mitochondrial membrane 22 homolog (yeast)

The protein encoded by this gene is an integral membrane protein of the mitochondrial outer membrane. The encoded protein interacts with TOMM20 and TOMM40, and forms a complex with several other proteins to import cytosolic preproteins into the mitochondrion. [provided by RefSeq, Jul 2008]

FOLH1 Gene

folate hydrolase (prostate-specific membrane antigen) 1

This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression of this protein in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. In the prostate the protein is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants encoding several different isoforms. [provided by RefSeq, Jul 2010]

IMMP1LP1 Gene

IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) pseudogene 1

LOC728499 Gene

POM121 membrane glycoprotein (rat) pseudogene

MMP24 Gene

matrix metallopeptidase 24 (membrane-inserted)

Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 by cleavage. The gene has previously been referred to as MMP25 but has been renamed MMP24. [provided by RefSeq, Jul 2008]

TIMM8A Gene

translocase of inner mitochondrial membrane 8 homolog A (yeast)

This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]

TIMM8B Gene

translocase of inner mitochondrial membrane 8 homolog B (yeast)

This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 2009]

LOC727980 Gene

translocase of outer mitochondrial membrane 40 homolog (yeast) pseudogene

TIMMDC1 Gene

translocase of inner mitochondrial membrane domain containing 1

LOC643367 Gene

POM121 membrane glycoprotein (rat) pseudogene

TIMM9 Gene

translocase of inner mitochondrial membrane 9 homolog (yeast)

TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]

MINOS1P3 Gene

mitochondrial inner membrane organizing system 1 pseudogene 3

MINOS1P2 Gene

mitochondrial inner membrane organizing system 1 pseudogene 2

MINOS1P1 Gene

mitochondrial inner membrane organizing system 1 pseudogene 1

ERMARD Gene

ER membrane-associated RNA degradation

The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]

LOC642661 Gene

translocase of outer mitochondrial membrane 40 homolog (yeast) pseudogene

MS4A18 Gene

membrane-spanning 4-domains, subfamily A, member 18

MS4A14 Gene

membrane-spanning 4-domains, subfamily A, member 14

MS4A15 Gene

membrane-spanning 4-domains, subfamily A, member 15

MBTPS2 Gene

membrane-bound transcription factor peptidase, site 2

This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]

MBTPS1 Gene

membrane-bound transcription factor peptidase, site 1

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]

GUCY2D Gene

guanylate cyclase 2D, membrane (retina-specific)

This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008]

TOMM70A Gene

translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)

This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precursor proteins. [provided by RefSeq, Oct 2011]

NEU3 Gene

sialidase 3 (membrane sialidase)

This gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane, and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer. [provided by RefSeq, Jul 2008]

LOC100422473 Gene

translocase of outer mitochondrial membrane 40 homolog (yeast) pseudogene

LOC729316 Gene

POM121 membrane glycoprotein pseudogene

MINOS1 Gene

mitochondrial inner membrane organizing system 1

MARCH5 Gene

membrane-associated ring finger (C3HC4) 5

MARCH5 is a ubiquitin ligase of the mitochondrial outer membrane that plays a role in the control of mitochondrial morphology by regulating mitofusin-2 (MFN2; MIM 608507) and DRP1 (DNM1L; MIM 603850) (Nakamura et al., 2006 [PubMed 16936636]).[supplied by OMIM, Mar 2008]

MARCH9 Gene

membrane-associated ring finger (C3HC4) 9

MARCH9 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH9 induces internalization of several membrane glycoproteins and directs them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Hoer et al., 2007 [PubMed 17174307]).[supplied by OMIM, Apr 2010]

TOMM20L Gene

translocase of outer mitochondrial membrane 20 homolog (yeast)-like

LOC102724175 Gene

membrane primary amine oxidase-like

LOC100131779 Gene

translocase of outer mitochondrial membrane 6 homolog (yeast) pseudogene

LOC646639 Gene

translocase of outer mitochondrial membrane 40 homolog (yeast) pseudogene

MS4A4A Gene

membrane-spanning 4-domains, subfamily A, member 4A

This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

MS4A4E Gene

membrane-spanning 4-domains, subfamily A, member 4E

Most MS4A genes, including MS4A4E, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004]

LOC100506224 Gene

translocase of outer mitochondrial membrane 5 homolog (yeast) pseudogene

TIMM23 Gene

translocase of inner mitochondrial membrane 23 homolog (yeast)

The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jul 2012]

TIMM22 Gene

translocase of inner mitochondrial membrane 22 homolog (yeast)

XPNPEP2 Gene

X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound

Aminopeptidase P is a hydrolase specific for N-terminal imido bonds, which are common to several collagen degradation products, neuropeptides, vasoactive peptides, and cytokines. Structurally, the enzyme is a member of the 'pita bread fold' family and occurs in mammalian tissues in both soluble and GPI-anchored membrane-bound forms. A membrane-bound and soluble form of this enzyme have been identified as products of two separate genes. [provided by RefSeq, Jul 2008]

TIMM17B Gene

translocase of inner mitochondrial membrane 17 homolog B (yeast)

This gene encodes a multipass transmembrane protein that forms an integral component of the mitochondrial translocase TIM23 complex. This complex facilitates the transport of mitochondrial proteins from the cytosol across the mitochondrial inner membrane and into the mitochondrion. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

TIMM17A Gene

translocase of inner mitochondrial membrane 17 homolog A (yeast)

MS4A6E Gene

membrane-spanning 4-domains, subfamily A, member 6E

This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008]

VIMP Gene

VCP-interacting membrane selenoprotein

This gene encodes a member of the selenoprotein family, characterized by a selenocysteine (Sec) residue at the active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Studies suggest that this protein may regulate cytokine production, and thus play a key role in the control of the inflammatory response. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]

IMMP1L Gene

IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)

The mitochondrial inner membrane peptidase (IMP) complex generates mature, active proteins in the mitochondrial intermembrane space by proteolytically removing the mitochondrial targeting presequence of nuclear-encoded proteins. IMP1 and IMP2 (IMMP2L; MIM 605977) are the catalytic subunits of the IMP complex (Burri et al., 2005 [PubMed 15814844]).[supplied by OMIM, Sep 2008]

LOC100129626 Gene

translocase of outer mitochondrial membrane 5 homolog (yeast) pseudogene

SMPD4P2 Gene

sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 2

SMPD4P1 Gene

sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 1

MMGT1 Gene

membrane magnesium transporter 1

TOMM34 Gene

translocase of outer mitochondrial membrane 34

The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. [provided by RefSeq, Jul 2008]

TIMM8BP2 Gene

translocase of inner mitochondrial membrane 8B pseudogene 2

TIMM13 Gene

translocase of inner mitochondrial membrane 13 homolog (yeast)

This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplasm into the mitochondrial inner membrane. Proteins of this family play a role in collecting substrate proteins from the translocase of the outer mitochondrial membrane (TOM) complex and delivering them to either the sorting and assembly machinery in the outer mitochondrial membrane (SAM) complex or the TIMM22 complex in the inner mitochondrial membrane. The encoded protein and the translocase of mitochondrial inner membrane 8a protein form a 70 kDa complex in the intermembrane space. [provided by RefSeq, Jul 2013]

TIMM10 Gene

translocase of inner mitochondrial membrane 10 homolog (yeast)

The mitochondrial protein encoded by this gene belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane, functioning as intermembrane space chaperones for the highly insoluble carrier proteins. [provided by RefSeq, Nov 2011]

TIMM21 Gene

translocase of inner mitochondrial membrane 21 homolog (yeast)

LOC728506 Gene

POM121 membrane glycoprotein (rat) pseudogene

ATP2B1 Gene

ATPase, Ca++ transporting, plasma membrane 1

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ATP2B3 Gene

ATPase, Ca++ transporting, plasma membrane 3

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ATP2B2 Gene

ATPase, Ca++ transporting, plasma membrane 2

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ATP2B4 Gene

ATPase, Ca++ transporting, plasma membrane 4

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

MS4A13 Gene

membrane-spanning 4-domains, subfamily A, member 13

IMMP1LP2 Gene

IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) pseudogene 2

CYB5B Gene

cytochrome b5 type B (outer mitochondrial membrane)

TIMM8AP1 Gene

translocase of inner mitochondrial membrane 8 homolog A (yeast) pseudogene 1

PGRMC2 Gene

progesterone receptor membrane component 2

PGRMC1 Gene

progesterone receptor membrane component 1

This gene encodes a putative membrane-associated progesterone steroid receptor. The protein is expressed predominantly in the liver and kidney. [provided by RefSeq, Mar 2010]

LOC100631376 Gene

sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) pseudogene

LOC105369987 Gene

mitochondrial inner membrane protease subunit 1 pseudogene

TIMM23B Gene

translocase of inner mitochondrial membrane 23 homolog B (yeast)

MS4A5 Gene

membrane-spanning 4-domains, subfamily A, member 5

This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. Though this member is not expressed in hematopoietic cells specifically, it may be involved in signal transduction like many of its related family members. The gene encoding this protein is localized to 11q12, among a cluster of family members. [provided by RefSeq, Jul 2008]

MS4A3 Gene

membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)

This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member likely plays a role in signal transduction and may function as a subunit associated with receptor complexes. The gene encoding this protein is localized to 11q12, among a cluster of related family members. Alternative splicing may result in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

LOC150776 Gene

sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene

MAGI3 Gene

membrane associated guanylate kinase, WW and PDZ domain containing 3

MAGI2 Gene

membrane associated guanylate kinase, WW and PDZ domain containing 2

The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]

MAGI1 Gene

membrane associated guanylate kinase, WW and PDZ domain containing 1

The protein encoded by this gene is a member of the membrane-associated guanylate kinase homologue (MAGUK) family. MAGUK proteins participate in the assembly of multiprotein complexes on the inner surface of the plasma membrane at regions of cell-cell contact. The product of this gene may play a role as scaffolding protein at cell-cell junctions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

LOC441081 Gene

POM121 membrane glycoprotein (rat) pseudogene

DNCM Gene

DNA associated with cytoplasmic membrane

SGSM3 Gene

small G protein signaling modulator 3

LOC100133102 Gene

ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) pseudogene

SPRR4 Gene

small proline-rich protein 4

SPRR3 Gene

small proline-rich protein 3

LOC100421121 Gene

small G protein signaling modulator 1 pseudogene

LOC643802 Gene

u3 small nucleolar ribonucleoprotein protein MPP10-like

SMKR1 Gene

small lysine-rich protein 1

SVIP Gene

small VCP/p97-interacting protein

RAC2 Gene

ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)

This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]

RAC3 Gene

ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)

The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. [provided by RefSeq, Jul 2008]

RAC1 Gene

ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)

The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

SPRR1A Gene

small proline-rich protein 1A

SPRR1B Gene

small proline-rich protein 1B

HSPB11 Gene

heat shock protein family B (small), member 11

SGSM2 Gene

small G protein signaling modulator 2

SGSM1 Gene

small G protein signaling modulator 1

LOC105379766 Gene

small nuclear ribonucleoprotein-associated protein N-like

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]

SMLR1 Gene

small leucine-rich protein 1

SPRR2E Gene

small proline-rich protein 2E

This gene encodes a member of a family of small proline-rich proteins clustered in the epidermal differentiation complex on chromosome 1q21. The encoded protein, along with other family members, is a component of the cornified cell envelope that forms beneath the plasma membrane in terminally differentiated stratified squamous epithelia. This envelope serves as a barrier against extracellular and environmental factors. The seven SPRR2 genes (A-G) appear to have been homogenized by gene conversion compared to others in the cluster that exhibit greater differences in protein structure. [provided by RefSeq, Feb 2014]

SPRR2D Gene

small proline-rich protein 2D

SPRR2G Gene

small proline-rich protein 2G

SPRR2F Gene

small proline-rich protein 2F

SPRR2A Gene

small proline-rich protein 2A

SPRR2C Gene

small proline-rich protein 2C (pseudogene)

SPRR2B Gene

small proline-rich protein 2B

RNU5B-1 Gene

RNA, U5B small nuclear 1

SNRPCP6 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 6

LOC101928952 Gene

serine palmitoyltransferase small subunit A pseudogene

RNU6-67P Gene

RNA, U6 small nuclear 67, pseudogene

RNU7-36P Gene

RNA, U7 small nuclear 36 pseudogene

SNORA81 Gene

small nucleolar RNA, H/ACA box 81

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA81, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

SNORA84 Gene

small nucleolar RNA, H/ACA box 84

SNORD115-14 Gene

small nucleolar RNA, C/D box 115-14

SNORD115-16 Gene

small nucleolar RNA, C/D box 115-16

SNORD115-17 Gene

small nucleolar RNA, C/D box 115-17

SNORD115-10 Gene

small nucleolar RNA, C/D box 115-10

RNU1-16P Gene

RNA, U1 small nuclear 16, pseudogene

KRR1 Gene

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

RNU7-53P Gene

RNA, U7 small nuclear 53 pseudogene

RNU5A-5P Gene

RNA, U5A small nuclear 5, pseudogene

SNORD48 Gene

small nucleolar RNA, C/D box 48

SNORD90 Gene

small nucleolar RNA, C/D box 90

SNORD41 Gene

small nucleolar RNA, C/D box 41

SNORD47 Gene

small nucleolar RNA, C/D box 47

SNORD44 Gene

small nucleolar RNA, C/D box 44

SNORD93 Gene

small nucleolar RNA, C/D box 93

SNORD4B Gene

small nucleolar RNA, C/D box 4B

SNORD4A Gene

small nucleolar RNA, C/D box 4A

LOC100422227 Gene

small ubiquitin-like modifier 1 pseudogene

U2AF1L4 Gene

U2 small nuclear RNA auxiliary factor 1-like 4

RNU2-6P Gene

RNA, U2 small nuclear 6, pseudogene

SNORD91B Gene

small nucleolar RNA, C/D box 91B

SNORD91A Gene

small nucleolar RNA, C/D box 91A

LOC402230 Gene

small nuclear ribonucleoprotein 27kDa (U4/U6.U5) pseudogene

SNORD115-6 Gene

small nucleolar RNA, C/D box 115-6

SNORD115-7 Gene

small nucleolar RNA, C/D box 115-7

SNORD115-4 Gene

small nucleolar RNA, C/D box 115-4

SNORD115-1 Gene

small nucleolar RNA, C/D box 115-1

This gene encodes a small nucleolar RNA (snoRNA) that is found clustered with dozens of other similar snoRNAs on chromosome 15. These genes are found mostly within introns of the IC-SNURF-SNRPN transcript, which is paternally imprinted and from the Prader-Willi/Angelman syndrome (PWS) region. This gene has been designated as copy 1 of the cluster and may be involved in the regulation of RNA editing and/or alternative splicing of the serotonin receptor 2C (HTR2C) transcript. This gene is not thought to play a major role in PWS. [provided by RefSeq, Jul 2008]

LOC100131425 Gene

LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

LOC100820733 Gene

LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

RNU7-1 Gene

RNA, U7 small nuclear 1

RNU6-46P Gene

RNA, U6 small nuclear 46, pseudogene

SERF2 Gene

small EDRK-rich factor 2

SNORD45A Gene

small nucleolar RNA, C/D box 45A

LOC101929101 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

SNORD111B Gene

small nucleolar RNA, C/D box 111B

LOC100631265 Gene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

LOC100631267 Gene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

LOC100631266 Gene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

LOC100631268 Gene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

RNU5E-6P Gene

RNA, U5E small nuclear 6, pseudogene

RNU7-24P Gene

RNA, U7 small nuclear 24 pseudogene

SNRPD3 Gene

small nuclear ribonucleoprotein D3 polypeptide 18kDa

This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

SNRPD2 Gene

small nuclear ribonucleoprotein D2 polypeptide 16.5kDa

The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

SNRPD1 Gene

small nuclear ribonucleoprotein D1 polypeptide 16kDa

This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

MPHOSPH10 Gene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)

This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein associates with the U3 small nucleolar ribonucleoprotein 60-80S complexes and may be involved in pre-rRNA processing. [provided by RefSeq, Dec 2010]

LOC100131877 Gene

small EDRK-rich factor 2 pseudogene

RNU1-28P Gene

RNA, U1 small nuclear 28, pseudogene

RNU1-13P Gene

RNA, U1 small nuclear 13, pseudogene

RNU7-5P Gene

RNA, U7 small nuclear 5 pseudogene

RNU6ATAC5P Gene

RNA, U6atac small nuclear 5, pseudogene

LSM8 Gene

LSM8 homolog, U6 small nuclear RNA associated (S. cerevisiae)

This gene encodes a member of the like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring which transiently binds U6 small nuclear RNAs and is involved in the general maturation of RNA in the nucleus. [provided by RefSeq, Jan 2010]

LSM4 Gene

LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)

This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

LSM5 Gene

LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

LSM6 Gene

LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae)

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

SNRPGP9 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 9

SNRPGP7 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 7

SNRPGP6 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 6

SNRPGP5 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 5

SNRPGP4 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 4

SNRPGP1 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 1

LOC100129534 Gene

small nuclear ribonucleoprotein polypeptide N pseudogene

LOC100131747 Gene

small EDRK-rich factor 2 pseudogene

SNORD12C Gene

small nucleolar RNA, C/D box 12C

SNORD12B Gene

small nucleolar RNA, C/D box 12B

SNORD123 Gene

small nucleolar RNA, C/D box 123

SNORD127 Gene

small nucleolar RNA, C/D box 127

SNORD124 Gene

small nucleolar RNA, C/D box 124

RNU7-62P Gene

RNA, U7 small nuclear 62 pseudogene

RNU6-79P Gene

RNA, U6 small nuclear 79, pseudogene

RNU4-7P Gene

RNA, U4 small nuclear 7, pseudogene

RNU6-8 Gene

RNA, U6 small nuclear 8

RNU6-9 Gene

RNA, U6 small nuclear 9

RNU6-7 Gene

RNA, U6 small nuclear 7

RNU6-1 Gene

RNA, U6 small nuclear 1

RNU6-2 Gene

RNA, U6 small nuclear 2

RNU6-69P Gene

RNA, U6 small nuclear 69, pseudogene

SNORA9 Gene

small nucleolar RNA, H/ACA box 9

SNORA8 Gene

small nucleolar RNA, H/ACA box 8

SNORA1 Gene

small nucleolar RNA, H/ACA box 1

SNORA4 Gene

small nucleolar RNA, H/ACA box 4

SNORA6 Gene

small nucleolar RNA, H/ACA box 6

RNU1-20P Gene

RNA, U1 small nuclear 20, pseudogene

RRP9 Gene

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

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

RNU7-47P Gene

RNA, U7 small nuclear 47 pseudogene

RNU7-86P Gene

RNA, U7 small nuclear 86 pseudogene

SNORD121B Gene

small nucleolar RNA, C/D box 121B

SNORD121A Gene

small nucleolar RNA, C/D box 121A

RNU7-13P Gene

RNA, U7 small nuclear 13 pseudogene

RNU6-36P Gene

RNA, U6 small nuclear 36, pseudogene

RNU4ATAC2P Gene

RNA, U4atac small nuclear 2, pseudogene

RNU6-64P Gene

RNA, U6 small nuclear 64, pseudogene

SNRNP200 Gene

small nuclear ribonucleoprotein 200kDa (U5)

Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]

RNU5B-5P Gene

RNA, U5B small nuclear 5, pseudogene

RNU6-63P Gene

RNA, U6 small nuclear 63, pseudogene

SNORA74A Gene

small nucleolar RNA, H/ACA box 74A

SNORA74B Gene

small nucleolar RNA, H/ACA box 74B

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA74B, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

RNU7-54P Gene

RNA, U7 small nuclear 54 pseudogene

RNU5A-2P Gene

RNA, U5A small nuclear 2, pseudogene

SNORD115-43 Gene

small nucleolar RNA, C/D box 115-43

SNORD115-41 Gene

small nucleolar RNA, C/D box 115-41

SNORD115-47 Gene

small nucleolar RNA, C/D box 115-47

SNORD1A Gene

small nucleolar RNA, C/D box 1A

SNORD1B Gene

small nucleolar RNA, C/D box 1B

SNORD1C Gene

small nucleolar RNA, C/D box 1C

SNORD16 Gene

small nucleolar RNA, C/D box 16

SNORD10 Gene

small nucleolar RNA, C/D box 10

SNORD11 Gene

small nucleolar RNA, C/D box 11

SNORD19 Gene

small nucleolar RNA, C/D box 19

RNU7-32P Gene

RNA, U7 small nuclear 32 pseudogene

SNORD43 Gene

small nucleolar RNA, C/D box 43

Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD43, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD43, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]

SNORD46 Gene

small nucleolar RNA, C/D box 46

SNORD116-6 Gene

small nucleolar RNA, C/D box 116-6

SNAR-F Gene

small ILF3/NF90-associated RNA F

SNAR-E Gene

small ILF3/NF90-associated RNA E

SNAR-D Gene

small ILF3/NF90-associated RNA D

KCNN4 Gene

potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4

The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]

KCNN3 Gene

potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

KCNN2 Gene

potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

KCNN1 Gene

potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 1

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq, Jul 2008]

RNU7-33P Gene

RNA, U7 small nuclear 33 pseudogene

RNU5D-2P Gene

RNA, U5D small nuclear 2, pseudogene

SNORA33 Gene

small nucleolar RNA, H/ACA box 33

SNORA32 Gene

small nucleolar RNA, H/ACA box 32

SNORA31 Gene

small nucleolar RNA, H/ACA box 31

SNORA30 Gene

small nucleolar RNA, H/ACA box 30

SNORA35 Gene

small nucleolar RNA, H/ACA box 35

SNORA34 Gene

small nucleolar RNA, H/ACA box 34

SNORA38 Gene

small nucleolar RNA, H/ACA box 38

RNU6-76P Gene

RNA, U6 small nuclear 76, pseudogene

RNU7-27P Gene

RNA, U7 small nuclear 27 pseudogene

SNRPCP9 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 9

SNRPCP8 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 8

SNRPCP3 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 3

SNRPCP2 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 2

SNRPCP7 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 7

SNRPCP4 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 4

SNAPC3 Gene

small nuclear RNA activating complex, polypeptide 3, 50kDa

SNAPC2 Gene

small nuclear RNA activating complex, polypeptide 2, 45kDa

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

SNAPC1 Gene

small nuclear RNA activating complex, polypeptide 1, 43kDa

SNAPC5 Gene

small nuclear RNA activating complex, polypeptide 5, 19kDa

SNAPC4 Gene

small nuclear RNA activating complex, polypeptide 4, 190kDa

SNORD98 Gene

small nucleolar RNA, C/D box 98

SNORD99 Gene

small nucleolar RNA, C/D box 99

SNORD94 Gene

small nucleolar RNA, C/D box 94

SNORD95 Gene

small nucleolar RNA, C/D box 95

SNORD97 Gene

small nucleolar RNA, C/D box 97

SNORD92 Gene

small nucleolar RNA, C/D box 92

RNU6-21P Gene

RNA, U6 small nuclear 21, pseudogene

UTP14A Gene

UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)

This gene encodes a member of the uridine triphosphate 14 family. As an essential component of a large ribonucleoprotein complex bound to the U3 small nucleolar RNA, the encoded protein is involved in ribosome biogenesis and 18S rRNA synthesis. An autosomal retrotransposed copy of this X-linked gene exists on chromosome 13. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

UTP14C Gene

UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)

RNU2-3P Gene

RNA, U2 small nuclear 3, pseudogene

RNU7-75P Gene

RNA, U7 small nuclear 75 pseudogene

RNU7-4P Gene

RNA, U7 small nuclear 4 pseudogene

RN7SKP1 Gene

RNA, 7SK small nuclear pseudogene 1

LOC102724525 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

RNU5A-8P Gene

RNA, U5A small nuclear 8, pseudogene

RNU6-53P Gene

RNA, U6 small nuclear 53, pseudogene

RNU6-39P Gene

RNA, U6 small nuclear 39, pseudogene

RNU5F-6P Gene

RNA, U5F small nuclear 6, pseudogene

SNAR-A8 Gene

small ILF3/NF90-associated RNA A8

RNU4-4P Gene

RNA, U4 small nuclear 4, pseudogene

SNAR-G1 Gene

small ILF3/NF90-associated RNA G1

SNAR-G2 Gene

small ILF3/NF90-associated RNA G2

RNU6-83P Gene

RNA, U6 small nuclear 83, pseudogene

RNU1-27P Gene

RNA, U1 small nuclear 27, pseudogene

RNU6-48P Gene

RNA, U6 small nuclear 48, pseudogene

RNU1-18P Gene

RNA, U1 small nuclear 18, pseudogene

RNU2-1 Gene

RNA, U2 small nuclear 1

The spliceosome is a multicomponent ribonucleoprotein complex that catalyzes the removal of introns from nuclear mRNA precursors. The spliceosome is composed of four small ribonucleoprotein particles (the U1, U2, and U4/U6 snRNPs) and numerous additional proteins. The U2 small nuclear RNA (snRNA) is a RNA component of the U2 snRNP that interacts with the 3' region of the intron at the branch site. Several sites in the human genome express U2 snRNAs. This locus represents an array of U2 snRNA genes located at 17q21-22 that undergoes concerted evolution to homogenize repeat units within the array. Each repeat in this array is approximately 6.1 kb long and contains a single copy of the U2 snRNA. Arrays of six to more than 30 repeats have been reported. [provided by RefSeq, Mar 2009]

RNU7-42P Gene

RNA, U7 small nuclear 42 pseudogene

SNORD32A Gene

small nucleolar RNA, C/D box 32A

SNORD32B Gene

small nucleolar RNA, C/D box 32B

RNU7-85P Gene

RNA, U7 small nuclear 85 pseudogene

SCLC1 Gene

small cell cancer of the lung

SNORD17 Gene

small nucleolar RNA, C/D box 17

SNHG5 Gene

small nucleolar RNA host gene 5

This gene is a member of both the non-protein-coding multiple snoRNA host gene family and the 5'-terminal oligopyrimidine (5' TOP) class of genes. Two snoRNAs are derived from the introns of this host gene but, although many alternative splice variants have been observed, the gene is thought to have no protein-coding potential. The gene is located at the chromosomal translocation breakpoint involved in B-cell lymphoma. [provided by RefSeq, Jul 2008]

SNHG4 Gene

small nucleolar RNA host gene 4

SNHG7 Gene

small nucleolar RNA host gene 7

SNHG6 Gene

small nucleolar RNA host gene 6

SNHG1 Gene

small nucleolar RNA host gene 1

SNHG8 Gene

small nucleolar RNA host gene 8

RNU7-28P Gene

RNA, U7 small nuclear 28 pseudogene

RNU7-65P Gene

RNA, U7 small nuclear 65 pseudogene

RNU7-38P Gene

RNA, U7 small nuclear 38 pseudogene

SNORD15B Gene

small nucleolar RNA, C/D box 15B

SNORD15A Gene

small nucleolar RNA, C/D box 15A

SNORD3B-1 Gene

small nucleolar RNA, C/D box 3B-1

SNORD3B-2 Gene

small nucleolar RNA, C/D box 3B-2

LOC100421673 Gene

small nuclear ribonucleoprotein polypeptide B pseudogene

LOC100421672 Gene

small nuclear ribonucleoprotein polypeptide B pseudogene

LOC101929749 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

TSKU Gene

tsukushi, small leucine rich proteoglycan

SNORD83A Gene

small nucleolar RNA, C/D box 83A

Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83A, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83A, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]

SNORD83B Gene

small nucleolar RNA, C/D box 83B

Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83B, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83B, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]

SNORA71C Gene

small nucleolar RNA, H/ACA box 71C

SNORA71B Gene

small nucleolar RNA, H/ACA box 71B

SNORA71A Gene

small nucleolar RNA, H/ACA box 71A

SNORA71E Gene

small nucleolar RNA, H/ACA box 71E

RNU6-66P Gene

RNA, U6 small nuclear 66, pseudogene

SNORD85 Gene

small nucleolar RNA, C/D box 85

UTP3 Gene

UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)

RNU7-8P Gene

RNA, U7 small nuclear 8 pseudogene

SNORD114-31 Gene

small nucleolar RNA, C/D box 114-31

SNORD114-30 Gene

small nucleolar RNA, C/D box 114-30

LOC100820734 Gene

LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

RNU7-14P Gene

RNA, U7 small nuclear 14 pseudogene

LOC729200 Gene

small nuclear ribonucleoprotein polypeptide B pseudogene

RNVU1-17 Gene

RNA, variant U1 small nuclear 17

RNVU1-14 Gene

RNA, variant U1 small nuclear 14

RNVU1-15 Gene

RNA, variant U1 small nuclear 15

RNVU1-11 Gene

RNA, variant U1 small nuclear 11

RNVU1-18 Gene

RNA, variant U1 small nuclear 18

RNVU1-19 Gene

RNA, variant U1 small nuclear 19

SNORD12 Gene

small nucleolar RNA, C/D box 12

RNU7-30P Gene

RNA, U7 small nuclear 30 pseudogene

SNORD13 Gene

small nucleolar RNA, C/D box 13

SNORA68 Gene

small nucleolar RNA, H/ACA box 68

SNORA64 Gene

small nucleolar RNA, H/ACA box 64

SNORA65 Gene

small nucleolar RNA, H/ACA box 65

SNORA66 Gene

small nucleolar RNA, H/ACA box 66

This gene encodes a non-coding RNA that functions in the biogenesis of other small nuclear RNAs. This RNA is found in the nucleolus, where it may be involved in the pseudouridylation of 18S ribosomal RNA. This RNA is found associated with the GAR1 protein. [provided by RefSeq, Apr 2009]

SNORA67 Gene

small nucleolar RNA, H/ACA box 67

SNORA60 Gene

small nucleolar RNA, H/ACA box 60

SNORA61 Gene

small nucleolar RNA, H/ACA box 61

SNORA62 Gene

small nucleolar RNA, H/ACA box 62

SNORA63 Gene

small nucleolar RNA, H/ACA box 63

SNORD116@ Gene

small nucleolar RNA, C/D box 116 cluster

SNAPC5P1 Gene

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

SNRPGP13 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 13

SNRPGP12 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 12

SNRPGP11 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 11

SNRPGP14 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 14

SNORD116-25 Gene

small nucleolar RNA, C/D box 116-25

SNORD116-27 Gene

small nucleolar RNA, C/D box 116-27

SNORD116-21 Gene

small nucleolar RNA, C/D box 116-21

RNU5E-8P Gene

RNA, U5E small nuclear 8, pseudogene

RNU7-51P Gene

RNA, U7 small nuclear 51 pseudogene

SNORD65 Gene

small nucleolar RNA, C/D box 65

SNORD64 Gene

small nucleolar RNA, C/D box 64

This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010]

SNORD67 Gene

small nucleolar RNA, C/D box 67

SNORD66 Gene

small nucleolar RNA, C/D box 66

SNORD61 Gene

small nucleolar RNA, C/D box 61

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box C/D class snoRNAs are involved in site-specific 2-prime-O-ribose methylation of preribosomal RNA precursors. This snoRNA is located in an intron of the RNA binding motif protein, X-linked gene (RBMX). [provided by RefSeq, Sep 2009]

SNORD60 Gene

small nucleolar RNA, C/D box 60

SNORD63 Gene

small nucleolar RNA, C/D box 63

SNORD69 Gene

small nucleolar RNA, C/D box 69

SNORD68 Gene

small nucleolar RNA, C/D box 68

RNU6-15P Gene

RNA, U6 small nuclear 15, pseudogene

RNU2-4P Gene

RNA, U2 small nuclear 4, pseudogene

RNU1-15P Gene

RNA, U1 small nuclear 15, pseudogene

RNU5F-4P Gene

RNA, U5F small nuclear 4, pseudogene

RNU6ATAC3P Gene

RNA, U6atac small nuclear 3, pseudogene

RNU7-72P Gene

RNA, U7 small nuclear 72 pseudogene

RNU6-56P Gene

RNA, U6 small nuclear 56, pseudogene

SNORD114-20 Gene

small nucleolar RNA, C/D box 114-20

SNRPGP8 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 8

SNORD115-21 Gene

small nucleolar RNA, C/D box 115-21

SNORD115-20 Gene

small nucleolar RNA, C/D box 115-20

SNORD115-23 Gene

small nucleolar RNA, C/D box 115-23

SNORD115-22 Gene

small nucleolar RNA, C/D box 115-22

SNORD115-25 Gene

small nucleolar RNA, C/D box 115-25

SNORD115-24 Gene

small nucleolar RNA, C/D box 115-24

SNORD115-27 Gene

small nucleolar RNA, C/D box 115-27

SNORD115-26 Gene

small nucleolar RNA, C/D box 115-26

SNORD115-29 Gene

small nucleolar RNA, C/D box 115-29

SNORD115-28 Gene

small nucleolar RNA, C/D box 115-28

LOC100131448 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 pseudogene

RNU3P2 Gene

RNA, U3 small nucleolar pseudogene 2

RNU3P3 Gene

RNA, U3 small nucleolar pseudogene 3

RNU3P1 Gene

RNA, U3 small nucleolar pseudogene 1

RNU3P4 Gene

RNA, U3 small nucleolar pseudogene 4

SNHG15 Gene

small nucleolar RNA host gene 15

SNHG14 Gene

small nucleolar RNA host gene 14

SNHG17 Gene

small nucleolar RNA host gene 17

SNHG16 Gene

small nucleolar RNA host gene 16

SNHG11 Gene

small nucleolar RNA host gene 11

This gene is a member of the non-protein-coding multiple snoRNA host gene family. Two snoRNAs are derived from the introns of this host gene. Although many alternative splice variants have been observed, the gene is thought to have no protein-coding potential. [provided by RefSeq, Jul 2008]

SNHG12 Gene

small nucleolar RNA host gene 12

SNHG19 Gene

small nucleolar RNA host gene 19

SNHG18 Gene

small nucleolar RNA host gene 18

SNORA80E Gene

small nucleolar RNA, H/ACA box 80E

SNORA80B Gene

small nucleolar RNA, H/ACA box 80B

SNORA80A Gene

small nucleolar RNA, H/ACA box 80A

RNU4-9P Gene

RNA, U4 small nuclear 9, pseudogene

RNU6-71P Gene

RNA, U6 small nuclear 71, pseudogene

SNORA45A Gene

small nucleolar RNA, H/ACA box 45A

RNU7-22P Gene

RNA, U7 small nuclear 22 pseudogene

SNRPB2 Gene

small nuclear ribonucleoprotein polypeptide B

The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

ASH2LP1 Gene

ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene 1

RNU7-59P Gene

RNA, U7 small nuclear 59 pseudogene

SNORD88A Gene

small nucleolar RNA, C/D box 88A

SNORD88B Gene

small nucleolar RNA, C/D box 88B

SNORD88C Gene

small nucleolar RNA, C/D box 88C

RNU6-26P Gene

RNA, U6 small nuclear 26, pseudogene

UTP11L Gene

UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)

RNU6-10P Gene

RNA, U6 small nuclear 10, pseudogene

SNORD114-1 Gene

small nucleolar RNA, C/D box 114-1

Small nucleolar RNAs (snoRNAs), like SNORD114-1, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site. SNORD114-1 is 1 of 31 tandem SNORD114 genes on chromosome 14q32 (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010]

SNORD114-6 Gene

small nucleolar RNA, C/D box 114-6

SNORD114-5 Gene

small nucleolar RNA, C/D box 114-5

SNORD114-4 Gene

small nucleolar RNA, C/D box 114-4

ASH1L Gene

ash1 (absent, small, or homeotic)-like (Drosophila)

This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]

LOC100422490 Gene

UTP6, small subunit (SSU) processome component, homolog (yeast) pseudogene

LOC100422497 Gene

UTP18, small subunit (SSU) processome component, homolog (yeast) pseudogene

RNU7-41P Gene

RNA, U7 small nuclear 41 pseudogene

SCARNA27 Gene

small Cajal body-specific RNA 27

SCARNA22 Gene

small Cajal body-specific RNA 22

SCARNA23 Gene

small Cajal body-specific RNA 23

SCARNA20 Gene

small Cajal body-specific RNA 20

SCARNA21 Gene

small Cajal body-specific RNA 21

RNU6ATAC4P Gene

RNA, U6atac small nuclear 4, pseudogene

RNU1-3 Gene

RNA, U1 small nuclear 3

RNU1-2 Gene

RNA, U1 small nuclear 2

RNU6-31P Gene

RNA, U6 small nuclear 31, pseudogene

SNORD115-5 Gene

small nucleolar RNA, C/D box 115-5

SNORD115-2 Gene

small nucleolar RNA, C/D box 115-2

SNORD115-3 Gene

small nucleolar RNA, C/D box 115-3

SNORD115-8 Gene

small nucleolar RNA, C/D box 115-8

SNORD115-9 Gene

small nucleolar RNA, C/D box 115-9

SNORD101 Gene

small nucleolar RNA, C/D box 101

SNORD100 Gene

small nucleolar RNA, C/D box 100

SNORD102 Gene

small nucleolar RNA, C/D box 102

SNORD105 Gene

small nucleolar RNA, C/D box 105

SNORD104 Gene

small nucleolar RNA, C/D box 104

SNORD107 Gene

small nucleolar RNA, C/D box 107

Small nucleolar RNAs (snoRNAs) are small non-coding RNAs involved in RNA processing. Box C/D class snoRNAs are involved in site-specific 2-prime-O-ribose methylation of preribosomal RNA precursors. This snoRNA is located in a cluster of genes including the SNURF-SNRPN gene, which serves as a host for multiple snoRNAs. [provided by RefSeq, Oct 2011]

SNORD108 Gene

small nucleolar RNA, C/D box 108

RNU7-60P Gene

RNA, U7 small nuclear 60 pseudogene

LOC441722 Gene

U2 small nuclear RNA auxiliary factor 1-like 4 pseudogene

SNORD23 Gene

small nucleolar RNA, C/D box 23

SNAR-B2 Gene

small ILF3/NF90-associated RNA B2

SNAR-B1 Gene

small ILF3/NF90-associated RNA B1

RNU5B-3P Gene

RNA, U5B small nuclear 3, pseudogene

LOC100631374 Gene

M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) pseudogene

SNRNP40 Gene

small nuclear ribonucleoprotein 40kDa (U5)

This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]

SNRNP48 Gene

small nuclear ribonucleoprotein 48kDa (U11/U12)

CDC42SE2 Gene

CDC42 small effector 2

CDC42SE1 Gene

CDC42 small effector 1

RNU1-22P Gene

RNA, U1 small nuclear 22, pseudogene

SCARNA5 Gene

small Cajal body-specific RNA 5

SCARNA4 Gene

small Cajal body-specific RNA 4

SMAGP Gene

small cell adhesion glycoprotein

RN7SKP8 Gene

RNA, 7SK small nuclear pseudogene 8

RN7SKP9 Gene

RNA, 7SK small nuclear pseudogene 9

RN7SKP6 Gene

RNA, 7SK small nuclear pseudogene 6

RN7SKP7 Gene

RNA, 7SK small nuclear pseudogene 7

RN7SKP4 Gene

RNA, 7SK small nuclear pseudogene 4

RN7SKP5 Gene

RNA, 7SK small nuclear pseudogene 5

RN7SKP2 Gene

RNA, 7SK small nuclear pseudogene 2

RN7SKP3 Gene

RNA, 7SK small nuclear pseudogene 3

SCARNA2 Gene

small Cajal body-specific RNA 2

SNHG3 Gene

small nucleolar RNA host gene 3

SNHG9 Gene

small nucleolar RNA host gene 9

RNU7-80P Gene

RNA, U7 small nuclear 80 pseudogene

RNU7-11P Gene

RNA, U7 small nuclear 11 pseudogene

LOC643605 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 pseudogene

RNU7-35P Gene

RNA, U7 small nuclear 35 pseudogene

SNORD45C Gene

small nucleolar RNA, C/D box 45C

SNORD45B Gene

small nucleolar RNA, C/D box 45B

RNU7-68P Gene

RNA, U7 small nuclear 68 pseudogene

SNORD18A Gene

small nucleolar RNA, C/D box 18A

SNORD18C Gene

small nucleolar RNA, C/D box 18C

SNORD18B Gene

small nucleolar RNA, C/D box 18B

SNORA53 Gene

small nucleolar RNA, H/ACA box 53

SNORA76C Gene

small nucleolar RNA, H/ACA box 76C

SNORA76A Gene

small nucleolar RNA, H/ACA box 76A

RNU7-52P Gene

RNA, U7 small nuclear 52 pseudogene

RNU5A-4P Gene

RNA, U5A small nuclear 4, pseudogene

SNORD3D Gene

small nucleolar RNA, C/D box 3D

SNORD3@ Gene

small nucleolar RNA, C/D box 3 cluster

SNORD3A Gene

small nucleolar RNA, C/D box 3A

U3 RNA, an abundant small nucleolar RNA (snoRNA), is thought to play a role in the processing of ribosomal RNA precursors (Bernstein et al., 1983 [PubMed 6186397]).[supplied by OMIM, Jun 2009]

SNORD37 Gene

small nucleolar RNA, C/D box 37

SNORD34 Gene

small nucleolar RNA, C/D box 34

SNORD33 Gene

small nucleolar RNA, C/D box 33

SNORD30 Gene

small nucleolar RNA, C/D box 30

SNORD31 Gene

small nucleolar RNA, C/D box 31

RNU6-45P Gene

RNA, U6 small nuclear 45, pseudogene

RNU6-34P Gene

RNA, U6 small nuclear 34, pseudogene

LSM1P1 Gene

LSM1, U6 small nuclear RNA associated pseudogene 1

LOC102724677 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

RNU6-55P Gene

RNA, U6 small nuclear 55, pseudogene

SNORA19 Gene

small nucleolar RNA, H/ACA box 19

SNORA18 Gene

small nucleolar RNA, H/ACA box 18

SNORA15 Gene

small nucleolar RNA, H/ACA box 15

SNORA17 Gene

small nucleolar RNA, H/ACA box 17

SNORA12 Gene

small nucleolar RNA, H/ACA box 12

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA12, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

RNU5F-7P Gene

RNA, U5F small nuclear 7, pseudogene

RNU7-78P Gene

RNA, U7 small nuclear 78 pseudogene

RNU4ATAC Gene

RNA, U4atac small nuclear (U12-dependent splicing)

The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome acts on approximately 700 specific introns in the human genome. Defects in this gene are a cause of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD). [provided by RefSeq, Jul 2011]

RNU7-25P Gene

RNA, U7 small nuclear 25 pseudogene

RNU7-81P Gene

RNA, U7 small nuclear 81 pseudogene

SNAR-C3 Gene

small ILF3/NF90-associated RNA C3

RNU6-23P Gene

RNA, U6 small nuclear 23, pseudogene

RNU7-10P Gene

RNA, U7 small nuclear 10 pseudogene

CTDSP1 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1

This gene encodes a member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats of the C-terminal domain of RNA polymerase II. The encoded protein plays a role in neuronal gene silencing in non-neuronal cells, and may also inhibit osteoblast differentiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]

CTDSP2 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2

CTDSPL Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like

RNU7-20P Gene

RNA, U7 small nuclear 20 pseudogene

SNORD116-10 Gene

small nucleolar RNA, C/D box 116-10

SNORD116-12 Gene

small nucleolar RNA, C/D box 116-12

RNU7-6P Gene

RNA, U7 small nuclear 6 pseudogene

RNU7-77P Gene

RNA, U7 small nuclear 77 pseudogene

RN7SK Gene

RNA, 7SK small nuclear

UTP18 Gene

UTP18 small subunit (SSU) processome component homolog (yeast)

SNORA36A Gene

small nucleolar RNA, H/ACA box 36A

Biosynthesis of stable cellular RNAs such as tRNAs, rRNAs, snRNAs, and snoRNAs is aided by covalent nucleotide modification after transcription. The modified nucleotides are involved in correct RNA folding, establishment of correct RNA-RNA and RNA-protein interactions, and in the correct function of mature RNAs. The RNA encoded by this gene is thought to mediate the pseudouridylation of residues U105 and U1244 of 18S rRNA. [provided by RefSeq, Feb 2009]

SNAR-A14 Gene

small ILF3/NF90-associated RNA A14

SNAR-A11 Gene

small ILF3/NF90-associated RNA A11

SNAR-A10 Gene

small ILF3/NF90-associated RNA A10

SNORD3C Gene

small nucleolar RNA, C/D box 3C

SNORD105B Gene

small nucleolar RNA, C/D box 105B

RNU5D-1 Gene

RNA, U5D small nuclear 1

RNU4-6P Gene

RNA, U4 small nuclear 6, pseudogene

SNORA71D Gene

small nucleolar RNA, H/ACA box 71D

LOC100303749 Gene

LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) pseudogene

SNAR-A3 Gene

small ILF3/NF90-associated RNA A3

SNAR-A2 Gene

small ILF3/NF90-associated RNA A2

SNAR-A7 Gene

small ILF3/NF90-associated RNA A7

SNAR-A6 Gene

small ILF3/NF90-associated RNA A6

SNAR-A5 Gene

small ILF3/NF90-associated RNA A5

SNAR-A4 Gene

small ILF3/NF90-associated RNA A4

SNORA16A Gene

small nucleolar RNA, H/ACA box 16A

CMSS1 Gene

cms1 ribosomal small subunit homolog (yeast)

SNRNP70 Gene

small nuclear ribonucleoprotein 70kDa (U1)

RNU7-49P Gene

RNA, U7 small nuclear 49 pseudogene

RNU5E-1 Gene

RNA, U5E small nuclear 1

SNORD70 Gene

small nucleolar RNA, C/D box 70

RNU1-21P Gene

RNA, U1 small nuclear 21, pseudogene

LOC100421863 Gene

ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene

RNU7-44P Gene

RNA, U7 small nuclear 44 pseudogene

SNORD116-5 Gene

small nucleolar RNA, C/D box 116-5

SNORD116-7 Gene

small nucleolar RNA, C/D box 116-7

RNU7-87P Gene

RNA, U7 small nuclear 87 pseudogene

RNU7-12P Gene

RNA, U7 small nuclear 12 pseudogene

RNU6ATAC Gene

RNA, U6atac small nuclear (U12-dependent splicing)

SNORD62B Gene

small nucleolar RNA, C/D box 62B

SPTSSA Gene

serine palmitoyltransferase, small subunit A

Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]

SPTSSB Gene

serine palmitoyltransferase, small subunit B

Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTB is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]

SNORA11 Gene

small nucleolar RNA, H/ACA box 11

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA11, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

SNORA10 Gene

small nucleolar RNA, H/ACA box 10

SNORA13 Gene

small nucleolar RNA, H/ACA box 13

LOC102724822 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

UTP6 Gene

UTP6, small subunit (SSU) processome component, homolog (yeast)

SNORD126 Gene

small nucleolar RNA, C/D box 126

SNORD125 Gene

small nucleolar RNA, C/D box 125

LOC105377886 Gene

small EDRK-rich factor 2 pseudogene

RSG1 Gene

REM2 and RAB-like small GTPase 1

RNU5B-6P Gene

RNA, U5B small nuclear 6, pseudogene

SNORA73A Gene

small nucleolar RNA, H/ACA box 73A

SNORA73B Gene

small nucleolar RNA, H/ACA box 73B

RNU7-57P Gene

RNA, U7 small nuclear 57 pseudogene

RNU6-52P Gene

RNA, U6 small nuclear 52, pseudogene

SNAR-A12 Gene

small ILF3/NF90-associated RNA A12

RNU7-88P Gene

RNA, U7 small nuclear 88 pseudogene

RN7SKP10 Gene

RNA, 7SK small nuclear pseudogene 10

BA395L14.12 Gene

small nuclear ribonucleoprotein polypeptide A' pseudogene

RNU6-58P Gene

RNA, U6 small nuclear 58, pseudogene

RNU5E-9P Gene

RNA, U5E small nuclear 9, pseudogene

SNORD113-1 Gene

small nucleolar RNA, C/D box 113-1

Small nucleolar RNAs (snoRNAs), like SNORD113-1, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site. SNORD113-1 is 1 of 9 tandem SNORD113 genes on chromosome 14q32 (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010]

SNORD113-3 Gene

small nucleolar RNA, C/D box 113-3

SNORD115-42 Gene

small nucleolar RNA, C/D box 115-42

SNORD115-40 Gene

small nucleolar RNA, C/D box 115-40

SNORD115-46 Gene

small nucleolar RNA, C/D box 115-46

SNORD115-45 Gene

small nucleolar RNA, C/D box 115-45

SNORD115-44 Gene

small nucleolar RNA, C/D box 115-44

SNORD115-48 Gene

small nucleolar RNA, C/D box 115-48

SNORD42B Gene

small nucleolar RNA, C/D box 42B

SNORD42A Gene

small nucleolar RNA, C/D box 42A

SNORA46 Gene

small nucleolar RNA, H/ACA box 46

SNORA47 Gene

small nucleolar RNA, H/ACA box 47

SNORA44 Gene

small nucleolar RNA, H/ACA box 44

SNORA43 Gene

small nucleolar RNA, H/ACA box 43

SNORA40 Gene

small nucleolar RNA, H/ACA box 40

SNORA41 Gene

small nucleolar RNA, H/ACA box 41

SNORA48 Gene

small nucleolar RNA, H/ACA box 48

SNORA49 Gene

small nucleolar RNA, H/ACA box 49

SNORD114@ Gene

small nucleolar RNA, C/D box 114 cluster

RNU7-73P Gene

RNA, U7 small nuclear 73 pseudogene

RNU6V Gene

RNA, U6 small nuclear variant sequence with SNRPE pseudogene sequence

SNORD58A Gene

small nucleolar RNA, C/D box 58A

SNORD58C Gene

small nucleolar RNA, C/D box 58C

SNORD58B Gene

small nucleolar RNA, C/D box 58B

SNORD89 Gene

small nucleolar RNA, C/D box 89

SNORD87 Gene

small nucleolar RNA, C/D box 87

Small nucleolar RNAs (snoRNAs) of the C/D class, such as SNORD87, are involved in 2-prime-methylation of preribosomal RNA precursors (Gogolevskaya et al., 2002 [PubMed 12119114]).[supplied by OMIM, Aug 2008]

SNORD86 Gene

small nucleolar RNA, C/D box 86

SNORD84 Gene

small nucleolar RNA, C/D box 84

SNORD82 Gene

small nucleolar RNA, C/D box 82

The majority of small nucleolar RNAs (snoRNAs) function as guide RNAs in the nucleotide modification of preribosomal RNA (pre-rRNA). C/D box snoRNAs, like SNORD82, are involved in site-specific 2-prime-O-ribose methylation of pre-rRNA (Rebane and Metspalu, 1999 [PubMed 10524220]).[supplied by OMIM, Mar 2008]

SNORD81 Gene

small nucleolar RNA, C/D box 81

SNORD80 Gene

small nucleolar RNA, C/D box 80

RNU5E-5P Gene

RNA, U5E small nuclear 5, pseudogene

SGTB Gene

small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta

SGTA Gene

small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha

This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]

SNRPGP10 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 10

SNRPGP15 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 15

RNU1-17P Gene

RNA, U1 small nuclear 17, pseudogene

RNU2-2P Gene

RNA, U2 small nuclear 2, pseudogene

RNU5F-2P Gene

RNA, U5F small nuclear 2, pseudogene

RNU7-74P Gene

RNA, U7 small nuclear 74 pseudogene

RNU6-50P Gene

RNA, U6 small nuclear 50, pseudogene

SNORD115-36 Gene

small nucleolar RNA, C/D box 115-36

SNORD115-37 Gene

small nucleolar RNA, C/D box 115-37

SNORD115-33 Gene

small nucleolar RNA, C/D box 115-33

SNORD115-30 Gene

small nucleolar RNA, C/D box 115-30

SNORD115-31 Gene

small nucleolar RNA, C/D box 115-31

RNU5E-2P Gene

RNA, U5E small nuclear 2, pseudogene

SNORD50A Gene

small nucleolar RNA, C/D box 50A

SNORD50A belongs to the C/D box class of small nucleolar RNAs (snoRNAs), which are thought to function as guide RNAs in the site-specific ribose methylation of preribosomal RNA (Kiss-Laszlo et al., 1996 [PubMed 8674114]).[supplied by OMIM, Nov 2009]

SNORD50B Gene

small nucleolar RNA, C/D box 50B

SNORD50B is a C/D box-type small nucleolar RNA (snoRNA) that is predicted to function as a guide RNA in 2-prime O-methylation of 28S ribosomal RNA (Tanaka et al., 2000 [PubMed 10792466]).[supplied by OMIM, Feb 2010]

SNORA16B Gene

small nucleolar RNA, H/ACA box 16B

SNRNP25 Gene

small nuclear ribonucleoprotein 25kDa (U11/U12)

Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 25K protein that is a component of the U12-type spliceosome. [provided by RefSeq, Apr 2010]

SNRNP27 Gene

small nuclear ribonucleoprotein 27kDa (U4/U6.U5)

This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

RNU6-82P Gene

RNA, U6 small nuclear 82, pseudogene

RNU1-24P Gene

RNA, U1 small nuclear 24, pseudogene

RNU7-43P Gene

RNA, U7 small nuclear 43 pseudogene

SNORA11E Gene

small nucleolar RNA, H/ACA box 11E

SERF1A Gene

small EDRK-rich factor 1A (telomeric)

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The duplication region includes both a telomeric and a centromeric copy of this gene. Deletions of this gene, the telomeric copy, often accompany deletions of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients, and so it is thought that this gene may be a modifier of the SMA phenotype. The function of this protein is not known; however, it bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. [provided by RefSeq, Jul 2008]

SERF1B Gene

small EDRK-rich factor 1B (centromeric)

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is the centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene encodes a protein of unknown function which bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. [provided by RefSeq, Jul 2008]

RNU7-66P Gene

RNA, U7 small nuclear 66 pseudogene

LOC100736412 Gene

ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene

SNORA69 Gene

small nucleolar RNA, H/ACA box 69

This gene encodes a member of the family of box ACA small nucleolar RNAs, characterized by a consensus ACA motif positioned 3 nucleotides from the 3' end of the RNAs and a double-hairpin structure. The box ACA small nucleolar RNAs may play a role in rRNA maturation. This gene is co-transcribed with the ribosomal protein L39 gene. [provided by RefSeq, Oct 2009]

RNU4-3P Gene

RNA, U4 small nuclear 3, pseudogene

RNU6-16P Gene

RNA, U6 small nuclear 16, pseudogene

IMP3 Gene

IMP3, U3 small nucleolar ribonucleoprotein

This gene encodes the human homolog of the yeast Imp3 protein. The protein localizes to the nucleoli and interacts with the U3 snoRNP complex. The protein contains an S4 domain. [provided by RefSeq, Jul 2008]

IMP4 Gene

IMP4, U3 small nucleolar ribonucleoprotein

IMP4 forms a ternary complex with IMP3 (MIM 612980) and MPP10 (MPHOSPHO10; MIM 605503) that interacts with U3 small nucleolar RNA (snoRNA), which is required for the early cleavage steps in pre-rRNA processing (Granneman et al., 2003 [PubMed 12655004]).[supplied by OMIM, Aug 2009]

SNORA70B Gene

small nucleolar RNA, H/ACA box 70B

SNORA70D Gene

small nucleolar RNA, H/ACA box 70D

SNORA70E Gene

small nucleolar RNA, H/ACA box 70E

SNORA70F Gene

small nucleolar RNA, H/ACA box 70F

SNORA70G Gene

small nucleolar RNA, H/ACA box 70G

RNU7-9P Gene

RNA, U7 small nuclear 9 pseudogene

RNU7-82P Gene

RNA, U7 small nuclear 82 pseudogene

RNU7-17P Gene

RNA, U7 small nuclear 17 pseudogene

RNU105B Gene

RNA, U105B small nucleolar

LOC401703 Gene

U2 small nuclear RNA auxiliary factor 1-like 4 pseudogene

RNU6-6P Gene

RNA, U6 small nuclear 6, pseudogene

RNVU1-20 Gene

RNA, variant U1 small nuclear 20

LOC100736411 Gene

ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene

RNU4-1 Gene

RNA, U4 small nuclear 1

RNU7-37P Gene

RNA, U7 small nuclear 37 pseudogene

SNORA7B Gene

small nucleolar RNA, H/ACA box 7B

SNORA7A Gene

small nucleolar RNA, H/ACA box 7A

SNORA79 Gene

small nucleolar RNA, H/ACA box 79

SNORA78 Gene

small nucleolar RNA, H/ACA box 78

SNORA77 Gene

small nucleolar RNA, H/ACA box 77

SNORA75 Gene

small nucleolar RNA, H/ACA box 75

SNORA72 Gene

small nucleolar RNA, H/ACA box 72

SNORA70 Gene

small nucleolar RNA, H/ACA box 70

SNORD49B Gene

small nucleolar RNA, C/D box 49B

LOC100130001 Gene

small nuclear ribonucleoprotein polypeptide B pseudogene

SNORD116-30 Gene

small nucleolar RNA, C/D box 116-30

RNU7-18P Gene

RNA, U7 small nuclear 18 pseudogene

RNU86 Gene

RNA, U86 small nucleolar

Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like U86, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like U86, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]

SNORD51 Gene

small nucleolar RNA, C/D box 51

SNORD52 Gene

small nucleolar RNA, C/D box 52

SNORD53 Gene

small nucleolar RNA, C/D box 53

SNORD54 Gene

small nucleolar RNA, C/D box 54

SNORD55 Gene

small nucleolar RNA, C/D box 55

SNORD57 Gene

small nucleolar RNA, C/D box 57

SNORD116-24 Gene

small nucleolar RNA, C/D box 116-24

SNORD116-26 Gene

small nucleolar RNA, C/D box 116-26

SNORD116-22 Gene

small nucleolar RNA, C/D box 116-22

SNORD116-23 Gene

small nucleolar RNA, C/D box 116-23

KRR1P1 Gene

KRR1, small subunit (SSU) processome component, homolog (yeast) pseudogene 1

RNU1-14P Gene

RNA, U1 small nuclear 14, pseudogene

SNORD116-28 Gene

small nucleolar RNA, C/D box 116-28

LOC150417 Gene

small nuclear ribonucleoprotein polypeptide A' pseudogene

RNU6ATAC2P Gene

RNA, U6atac small nuclear 2, pseudogene

RNU5F-5P Gene

RNA, U5F small nuclear 5, pseudogene

SNRPA1 Gene

small nuclear ribonucleoprotein polypeptide A'

UTP15 Gene

UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)

SCARNA9L Gene

small Cajal body-specific RNA 9-like

RNU7-71P Gene

RNA, U7 small nuclear 71 pseudogene

SNORA36B Gene

small nucleolar RNA, H/ACA box 36B

SNORA36C Gene

small nucleolar RNA, H/ACA box 36C

RNVU1-3 Gene

RNA, variant U1 small nuclear 3

RNU6-68P Gene

RNA, U6 small nuclear 68, pseudogene

RNU6-57P Gene

RNA, U6 small nuclear 57, pseudogene

SNORD115-18 Gene

small nucleolar RNA, C/D box 115-18

SNORD115-19 Gene

small nucleolar RNA, C/D box 115-19

SNORD115-15 Gene

small nucleolar RNA, C/D box 115-15

SNORD115-11 Gene

small nucleolar RNA, C/D box 115-11

SNORD115-12 Gene

small nucleolar RNA, C/D box 115-12

SNORD115-13 Gene

small nucleolar RNA, C/D box 115-13

SNORD114-14 Gene

small nucleolar RNA, C/D box 114-14

CAPNS1 Gene

calpain, small subunit 1

This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

CAPNS2 Gene

calpain, small subunit 2

SNORD73B Gene

small nucleolar RNA, C/D box U73B (pseudogene)

SNORD73A Gene

small nucleolar RNA, C/D box 73A

SNAR-I Gene

small ILF3/NF90-associated RNA I

LSM7 Gene

LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae)

Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]

LSM1 Gene

LSM1, U6 small nuclear RNA associated

This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Increased expression of this gene may play a role in cellular transformation and the progression of several malignancies including lung cancer, mesothelioma and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Nov 2011]

LSM2 Gene

LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)

This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 19. [provided by RefSeq, Nov 2011]

RNU6-72P Gene

RNA, U6 small nuclear 72, pseudogene

RNU5E-7P Gene

RNA, U5E small nuclear 7, pseudogene

RNU12 Gene

RNA, U12 small nuclear

RNU11 Gene

RNA, U11 small nuclear

RNU4-8P Gene

RNA, U4 small nuclear 8, pseudogene

RNU7-58P Gene

RNA, U7 small nuclear 58 pseudogene

RNU5A-7P Gene

RNA, U5A small nuclear 7, pseudogene

RNU7-23P Gene

RNA, U7 small nuclear 23 pseudogene

SNORD109A Gene

small nucleolar RNA, C/D box 109A

This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010]

SNORD109B Gene

small nucleolar RNA, C/D box 109B

This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010]

SNORA70C Gene

small nucleolar RNA, H/ACA box 70C

This gene produces a small nucleolar RNA (snoRNA) that plays a role in post-transcriptional modification. This snoRNA is a type-3 retrotransposed snoRNA, where the ribosomal protein L10 gene on chromosome X is its parental gene, and this, together with part of the parental gene, was subsequently mobilized into an intron of the astrotactin 2 host gene on chromosome 9. This snoRNA contains a H/ACA box, which serves as a guide for the pseudouridylation of selected bases of ribosomal RNA by forming short duplexes with the 18S rRNA U1692, the target for this snoRNA. This gene is specific to human, chimp and orangutan, and is not found in the genomes of rhesus or marmoset. [provided by RefSeq, Jun 2010]

SNRPEP9 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 9

SNRPEP8 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 8

SNRPEP5 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 5

SNRPEP4 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 4

SNRPEP7 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 7

SNRPEP6 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 6

SNRPEP1 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 1

SNRPEP3 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 3

SNRPEP2 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 2

SNORA51 Gene

small nucleolar RNA, H/ACA box 51

SNORA11D Gene

small nucleolar RNA, H/ACA box 11D

SNRPCP1 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 1

SCARNA13 Gene

small Cajal body-specific RNA 13

SCARNA12 Gene

small Cajal body-specific RNA 12

This gene produces a small nuclear RNA that localizes specifically to Cajal bodies, which are conserved subnuclear organelles that are present in the nucleoplasm. This RNA is processed from an intron of the prohibitin 2 host gene. It includes both an H/ACA box and a C/D box, and is thought to guide the pseudouridylation of residue U46 in the U5 small nuclear RNA. [provided by RefSeq, Jun 2010]

SCARNA11 Gene

small Cajal body-specific RNA 11

SCARNA10 Gene

small Cajal body-specific RNA 10

SCARNA17 Gene

small Cajal body-specific RNA 17

SCARNA16 Gene

small Cajal body-specific RNA 16

SCARNA15 Gene

small Cajal body-specific RNA 15

SCARNA14 Gene

small Cajal body-specific RNA 14

SCARNA18 Gene

small Cajal body-specific RNA 18

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SCARNA18, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

SMAP1 Gene

small ArfGAP 1

The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

SMAP2 Gene

small ArfGAP2

RNU7-89P Gene

RNA, U7 small nuclear 89 pseudogene

LOC101929087 Gene

small ubiquitin-related modifier 2-like

SNORA45B Gene

small nucleolar RNA, H/ACA box 45B

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA45, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

SNORA21 Gene

small nucleolar RNA, H/ACA box 21

SNORA24 Gene

small nucleolar RNA, H/ACA box 24

SNORA28 Gene

small nucleolar RNA, H/ACA box 28

SNORA29 Gene

small nucleolar RNA, H/ACA box 29

SNORD118 Gene

small nucleolar RNA, C/D box 118

SNORD119 Gene

small nucleolar RNA, C/D box 119

SNORD117 Gene

small nucleolar RNA, C/D box 117

SNORD112 Gene

small nucleolar RNA, C/D box 112

Small nucleolar RNAs (snoRNAs), like SNORD112, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010]

SNORD110 Gene

small nucleolar RNA, C/D box 110

SNORD111 Gene

small nucleolar RNA, C/D box 111

RNU7-61P Gene

RNA, U7 small nuclear 61 pseudogene

SNORD11B Gene

small nucleolar RNA, C/D box 11B

RNU7-63P Gene

RNA, U7 small nuclear 63 pseudogene

SNRPGP2 Gene

small nuclear ribonucleoprotein polypeptide G pseudogene 2

SNAR-C5 Gene

small ILF3/NF90-associated RNA C5

SNAR-C4 Gene

small ILF3/NF90-associated RNA C4

SNAR-C1 Gene

small ILF3/NF90-associated RNA C1

SNAR-C2 Gene

small ILF3/NF90-associated RNA C2

RNU12-2P Gene

RNA, U12 small nuclear 2, pseudogene

SCARNA9 Gene

small Cajal body-specific RNA 9

SCARNA8 Gene

small Cajal body-specific RNA 8

SCARNA7 Gene

small Cajal body-specific RNA 7

SCARNA3 Gene

small Cajal body-specific RNA 3

SCARNA1 Gene

small Cajal body-specific RNA 1

SNRPEP10 Gene

small nuclear ribonucleoprotein polypeptide E pseudogene 10

RNU7-46P Gene

RNA, U7 small nuclear 46 pseudogene

SNORD36A Gene

small nucleolar RNA, C/D box 36A

SNORD36C Gene

small nucleolar RNA, C/D box 36C

SNORD36B Gene

small nucleolar RNA, C/D box 36B

RNU5A-1 Gene

RNA, U5A small nuclear 1

SNORA38B Gene

small nucleolar RNA, H/ACA box 38B

RNU6-35P Gene

RNA, U6 small nuclear 35, pseudogene

SNRPD2P2 Gene

small nuclear ribonucleoprotein D2 pseudogene 2

SNRPD2P1 Gene

small nuclear ribonucleoprotein D2 pseudogene 1

SNORD116-9 Gene

small nucleolar RNA, C/D box 116-9

SNORD116-8 Gene

small nucleolar RNA, C/D box 116-8

SNORD116-4 Gene

small nucleolar RNA, C/D box 116-4

SNORD116-1 Gene

small nucleolar RNA, C/D box 116-1

SNORD116-3 Gene

small nucleolar RNA, C/D box 116-3

SNORD116-2 Gene

small nucleolar RNA, C/D box 116-2

RNU7-40P Gene

RNA, U7 small nuclear 40 pseudogene

RNU7-69P Gene

RNA, U7 small nuclear 69 pseudogene

RNU7-34P Gene

RNA, U7 small nuclear 34 pseudogene

SNORD19B Gene

small nucleolar RNA, C/D box 19B

RNU5B-4P Gene

RNA, U5B small nuclear 4, pseudogene

RNU7-55P Gene

RNA, U7 small nuclear 55 pseudogene

RNU5A-3P Gene

RNA, U5A small nuclear 3, pseudogene

SNORD21 Gene

small nucleolar RNA, C/D box 21

This gene encodes a small nucleolar RNA (snoRNA) that may be involved in biogenesis of the large (28S) ribosomal subunit. This gene is found within an intron of the RPL5 gene. [provided by RefSeq, Mar 2009]

SNORD20 Gene

small nucleolar RNA, C/D box 20

SNORD22 Gene

small nucleolar RNA, C/D box 22

SNORD25 Gene

small nucleolar RNA, C/D box 25

SNORD24 Gene

small nucleolar RNA, C/D box 24

SNORD27 Gene

small nucleolar RNA, C/D box 27

SNORD26 Gene

small nucleolar RNA, C/D box 26

SNORD29 Gene

small nucleolar RNA, C/D box 29

SNORD28 Gene

small nucleolar RNA, C/D box 28

RNU105C Gene

RNA, U105C small nucleolar

LOC100422088 Gene

ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene

SNAR-A9 Gene

small ILF3/NF90-associated RNA A9

RNU7-26P Gene

RNA, U7 small nuclear 26 pseudogene

SNAR-A1 Gene

small ILF3/NF90-associated RNA A1

SNRPN Gene

small nuclear ribonucleoprotein polypeptide N

The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. [provided by RefSeq, Jul 2008]

SNRPB Gene

small nuclear ribonucleoprotein polypeptides B and B1

The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. [provided by RefSeq, Jul 2008]

SNRPC Gene

small nuclear ribonucleoprotein polypeptide C

This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP) particle required for the formation of the spliceosome. The encoded protein participates in the processing of nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by patients with connective tissue diseases. The genome contains several pseudogenes of this functional gene. Alternative splicing results in a non-coding transcript variant.[provided by RefSeq, Oct 2009]

SNRPA Gene

small nuclear ribonucleoprotein polypeptide A

The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation. [provided by RefSeq, Oct 2010]

SNRPF Gene

small nuclear ribonucleoprotein polypeptide F

SNRPG Gene

small nuclear ribonucleoprotein polypeptide G

SNRPE Gene

small nuclear ribonucleoprotein polypeptide E

CAPNS1P1 Gene

calpain, small subunit 1 pseudogene 1

RNVU1-8 Gene

RNA, variant U1 small nuclear 8

RNVU1-4 Gene

RNA, variant U1 small nuclear 4

RNVU1-6 Gene

RNA, variant U1 small nuclear 6

RNVU1-7 Gene

RNA, variant U1 small nuclear 7

RNVU1-1 Gene

RNA, variant U1 small nuclear 1

SNORA20 Gene

small nucleolar RNA, H/ACA box 20

SNORA22 Gene

small nucleolar RNA, H/ACA box 22

SNORA23 Gene

small nucleolar RNA, H/ACA box 23

SNORA25 Gene

small nucleolar RNA, H/ACA box 25

SNORA26 Gene

small nucleolar RNA, H/ACA box 26

SNORA27 Gene

small nucleolar RNA, H/ACA box 27

SNORA2A Gene

small nucleolar RNA, H/ACA box 2A

SNORA2B Gene

small nucleolar RNA, H/ACA box 2B

SERF1AP1 Gene

small EDRK-rich factor 1A (telomeric) pseudogene 1

U2AF1 Gene

U2 small nuclear RNA auxiliary factor 1

This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

U2AF2 Gene

U2 small nuclear RNA auxiliary factor 2

U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. [provided by RefSeq, Jul 2008]

RNU6-75P Gene

RNA, U6 small nuclear 75, pseudogene

SNORD56B Gene

small nucleolar RNA, C/D box 56B

RNU5E-4P Gene

RNA, U5E small nuclear 4, pseudogene

SNRPCP19 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 19

SNRPCP18 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 18

SNRPCP15 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 15

SNRPCP14 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 14

SNRPCP12 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 12

SNRPCP11 Gene

small nuclear ribonucleoprotein polypeptide C pseudogene 11

SNORD116-20 Gene

small nucleolar RNA, C/D box 116-20

SNORD116-29 Gene

small nucleolar RNA, C/D box 116-29

RNU1-11P Gene

RNA, U1 small nuclear 11, pseudogene

RNU7-7P Gene

RNA, U7 small nuclear 7 pseudogene