Name

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

LOC101060346 Gene

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

ZNF736P3Y Gene

zinc finger protein 736 pseudogene 3, Y-linked

TSPY8 Gene

testis specific protein, Y-linked 8

TSPY2 Gene

testis specific protein, Y-linked 2

TSPY1 Gene

testis specific protein, Y-linked 1

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

RBMY2JP Gene

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

RBMY1HP Gene

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

TSPY18P Gene

testis specific protein, Y-linked 18, pseudogene

TSPY23P Gene

testis specific protein, Y-linked 23, pseudogene

CDY10P Gene

chromodomain protein, Y-linked 10 pseudogene

RBMY2GP Gene

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

TSPY4 Gene

testis specific protein, Y-linked 4

TSPY3 Gene

testis specific protein, Y-linked 3

RPS4Y2 Gene

ribosomal protein S4, Y-linked 2

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

RPS4Y1 Gene

ribosomal protein S4, Y-linked 1

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

RNF19BPX Gene

ring finger protein 19B pseudogene, X-linked

RNF19BPY Gene

ring finger protein 19B pseudogene, Y-linked

SPANXA1 Gene

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

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

TSPY17P Gene

testis specific protein, Y-linked 17, pseudogene

CDY18P Gene

chromodomain protein, Y-linked 18 pseudogene

RBMY2OP Gene

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

ZNF736P7Y Gene

zinc finger protein 736 pseudogene 7, Y-linked

CDY5P Gene

chromodomain protein, Y-linked 5 pseudogene

ZNF736P4Y Gene

zinc finger protein 736 pseudogene 4, Y-linked

ZNF736P12Y Gene

zinc finger protein 736 pseudogene 12, Y-linked

RBMY1J Gene

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

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

CDY1 Gene

chromodomain protein, Y-linked, 1

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

RBMY2WP Gene

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

PPP1R12BP1 Gene

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

PPP1R12BP2 Gene

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

TSPY20P Gene

testis specific protein, Y-linked 20, pseudogene

TTTY3B Gene

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

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

TTTY17A Gene

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

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

TTTY17B Gene

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

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

TTTY17C Gene

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

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

RBMY1GP Gene

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

RBMY2DP Gene

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

TSPY12P Gene

testis specific protein, Y-linked 12, pseudogene

CDY17P Gene

chromodomain protein, Y-linked 17 pseudogene

RBMXL1 Gene

RNA binding motif protein, X-linked-like 1

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

RBMXL3 Gene

RNA binding motif protein, X-linked-like 3

RBMXL2 Gene

RNA binding motif protein, X-linked-like 2

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

TTTY23B Gene

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

ZNF736P1Y Gene

zinc finger protein 736 pseudogene 1, Y-linked

ZNF736P11Y Gene

zinc finger protein 736 pseudogene 11, Y-linked

RBMY2TP Gene

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

TTTY6B Gene

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

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

CDY20P Gene

chromodomain protein, Y-linked 20 pseudogene

TSPY25P Gene

testis specific protein, Y-linked 25, pseudogene

TSPY11P Gene

testis specific protein, Y-linked 11, pseudogene

CDY12P Gene

chromodomain protein, Y-linked 12 pseudogene

XIAP Gene

X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase

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

RBMY2AP Gene

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

CDY3P Gene

chromodomain protein, Y-linked 3 pseudogene

ZNF736P2Y Gene

zinc finger protein 736 pseudogene 2, Y-linked

TTTY2 Gene

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

TTTY3 Gene

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

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

TTTY1 Gene

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

TTTY6 Gene

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

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

TTTY7 Gene

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

TTTY4 Gene

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

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

TTTY5 Gene

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

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

TTTY8 Gene

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

TSPY19P Gene

testis specific protein, Y-linked 19, pseudogene

LOC100288788 Gene

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

TSPY9P Gene

testis specific protein, Y-linked 9, pseudogene

LOC100652931 Gene

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

RBMY2QP Gene

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

ZFX Gene

zinc finger protein, X-linked

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

TSPY10 Gene

testis specific protein, Y-linked 10

TSPY22P Gene

testis specific protein, Y-linked 22, pseudogene

TTTY14 Gene

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

TTTY15 Gene

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

TTTY16 Gene

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

TTTY10 Gene

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

TTTY11 Gene

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

TTTY12 Gene

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

TTTY13 Gene

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

TTTY18 Gene

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

TTTY19 Gene

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

TTTY1B Gene

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

PRKY Gene

protein kinase, Y-linked, pseudogene

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

PRKX Gene

protein kinase, X-linked

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

RBMY1A1 Gene

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

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

RBMY2YP Gene

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

CDY11P Gene

chromodomain protein, Y-linked 11 pseudogene

RBMY2FP Gene

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

TTTY9A Gene

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

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

TTTY9B Gene

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

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

TSPY14P Gene

testis specific protein, Y-linked 14, pseudogene

RBMY1A3P Gene

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

CDY19P Gene

chromodomain protein, Y-linked 19 pseudogene

LOC100420532 Gene

ribosomal protein S4, Y-linked 2 pseudogene

RBMY2NP Gene

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

PRKXP1 Gene

protein kinase, X-linked, pseudogene 1

PRKXP2 Gene

protein kinase, X-linked, pseudogene 2

ZNF92P1Y Gene

zinc finger protein 92 pseudogene 1, Y-linked

TTTY21B Gene

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

CDY4P Gene

chromodomain protein, Y-linked 4 pseudogene

RBMY1C Gene

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

RBMY1B Gene

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

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

RBMY1F Gene

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

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

RBMY1E Gene

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

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

RBMY1D Gene

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

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

LOC100420509 Gene

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

RBMY2VP Gene

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

TTTY4C Gene

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

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

TTTY4B Gene

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

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

CDY6P Gene

chromodomain protein, Y-linked 6 pseudogene

CDY22P Gene

chromodomain protein, Y-linked 22 pseudogene

RBMX Gene

RNA binding motif protein, X-linked

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

CDY9P Gene

chromodomain protein, Y-linked 9 pseudogene

TSPY13P Gene

testis specific protein, Y-linked 13, pseudogene

CDY23P Gene

chromodomain protein, Y-linked 23 pseudogene

RBMY2CP Gene

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

CDY1B Gene

chromodomain protein, Y-linked, 1B

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

RBMX2P4 Gene

RNA binding motif protein, X-linked 2 pseudogene 4

RBMX2P5 Gene

RNA binding motif protein, X-linked 2 pseudogene 5

RBMX2P1 Gene

RNA binding motif protein, X-linked 2 pseudogene 1

RBMX2P2 Gene

RNA binding motif protein, X-linked 2 pseudogene 2

RBMX2P3 Gene

RNA binding motif protein, X-linked 2 pseudogene 3

RBMY2KP Gene

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

ZNF736P8Y Gene

zinc finger protein 736 pseudogene 8, Y-linked

ZFY Gene

zinc finger protein, Y-linked

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

TTTY7B Gene

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

RBMY1KP Gene

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

RBMY2SP Gene

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

CDY14P Gene

chromodomain protein, Y-linked 14 pseudogene

TSPY7P Gene

testis specific protein, Y-linked 7, pseudogene

TSPY24P Gene

testis specific protein, Y-linked 24, pseudogene

CDY13P Gene

chromodomain protein, Y-linked 13 pseudogene

TTTY8B Gene

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

LOC100128413 Gene

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

CDY2A Gene

chromodomain protein, Y-linked, 2A

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

CDY2B Gene

chromodomain protein, Y-linked, 2B

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

TSPY16P Gene

testis specific protein, Y-linked 16, pseudogene

SRPX2 Gene

sushi-repeat containing protein, X-linked 2

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

RBMY2HP Gene

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

RBMXP4 Gene

RNA binding motif protein, X-linked pseudogene 4

RBMXP1 Gene

RNA binding motif protein, X-linked pseudogene 1

RBMXP3 Gene

RNA binding motif protein, X-linked pseudogene 3

RBMXP2 Gene

RNA binding motif protein, X-linked pseudogene 2

CDY8P Gene

chromodomain protein, Y-linked 8 pseudogene

ZNF736P9Y Gene

zinc finger protein 736 pseudogene 9, Y-linked

RBMX2 Gene

RNA binding motif protein, X-linked 2

TSPY21P Gene

testis specific protein, Y-linked 21, pseudogene

TTTY2B Gene

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

TTTY21 Gene

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

TTTY20 Gene

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

TTTY23 Gene

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

TTTY22 Gene

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

RBMY2XP Gene

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

TSPY26P Gene

testis specific protein, Y-linked 26, pseudogene

RBMY2EP Gene

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

RBMY3AP Gene

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

TSPY15P Gene

testis specific protein, Y-linked 15, pseudogene

CDY16P Gene

chromodomain protein, Y-linked 16 pseudogene

RBMY2MP Gene

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

SRPX Gene

sushi-repeat containing protein, X-linked

CDY7P Gene

chromodomain protein, Y-linked 7 pseudogene

ZNF736P6Y Gene

zinc finger protein 736 pseudogene 6, Y-linked

ZNF736P10Y Gene

zinc finger protein 736 pseudogene 10, Y-linked

RBMY2UP Gene

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

CDY15P Gene

chromodomain protein, Y-linked 15 pseudogene

TSPY6P Gene

testis specific protein, Y-linked 6, pseudogene

RPS4X Gene

ribosomal protein S4, X-linked

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

CDY21P Gene

chromodomain protein, Y-linked 21 pseudogene

SMPX Gene

small muscle protein, X-linked

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

TSPY5P Gene

testis specific protein, Y-linked 5, pseudogene

POMGNT1 Gene

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

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

POMGNT2 Gene

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

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

RBMY2BP Gene

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

NUDT19P5 Gene

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

TTTY25P Gene

testis-specific transcript, Y-linked 25, pseudogene

NUDT19P1 Gene

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

NUDT19P3 Gene

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

BEX5 Gene

brain expressed, X-linked 5

BEX4 Gene

brain expressed, X-linked 4

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

BEX2 Gene

brain expressed X-linked 2

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

BEX1 Gene

brain expressed, X-linked 1

HSFX2 Gene

heat shock transcription factor family, X linked 2

EMWX Gene

episodic muscle weakness, X-linked

UTY Gene

ubiquitously transcribed tetratricopeptide repeat containing, Y-linked

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

NUDT19P4 Gene

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

OFD1P8Y Gene

OFD1 pseudogene 8, Y-linked

GRDX Gene

Graves disease, susceptibility to, X-linked

USP9X Gene

ubiquitin specific peptidase 9, X-linked

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

USP9Y Gene

ubiquitin specific peptidase 9, Y-linked

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

HPCX Gene

hereditary prostate cancer, X-linked

USP9YP34 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 34

USP9YP30 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 30

MRXSAB Gene

Abidi X-linked mental retardation syndrome

MRX18 Gene

mental retardation, X-linked 18

MRX11 Gene

mental retardation, X-linked 11

MRX12 Gene

mental retardation, X-linked 12

MRX15 Gene

mental retardation, X-linked 15

MRX14 Gene

mental retardation, X-linked 14

MRX17 Gene

mental retardation, X-linked 17

NLGN4Y Gene

neuroligin 4, Y-linked

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

NLGN4X Gene

neuroligin 4, X-linked

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

OFD1P18Y Gene

OFD1 pseudogene 18, Y-linked

RP34 Gene

retinitis pigmentosa 34 (X-linked recessive)

TRIM60P7Y Gene

tripartite motif containing 60 pseudogene 7, Y-linked

TTTY13B Gene

testis-specific transcript, Y-linked 13B

MRX92 Gene

Mental retardation, X-linked 92

MRX95 Gene

Mental retardation, X-linked 95

TTTY28P Gene

testis-specific transcript, Y-linked 28, pseudogene

DELYQ11 Gene

Sertoli cell-only syndrome, Y-linked

OFD1P10Y Gene

OFD1 pseudogene 10, Y-linked

HSFX1 Gene

heat shock transcription factor family, X linked 1

ALG1L7P Gene

asparagine-linked glycosylation 1-like 7, pseudogene

FAM199YP Gene

family with sequence similarity 199, Y-linked, pseudogene

BPY2B Gene

basic charge, Y-linked, 2B

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

BPY2C Gene

basic charge, Y-linked, 2C

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

UBE2Q2P4Y Gene

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

OGT Gene

O-linked N-acetylglucosamine (GlcNAc) transferase

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

XK Gene

X-linked Kx blood group

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

XS Gene

X-linked suppressor of LU antigens

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

ATRX Gene

alpha thalassemia/mental retardation syndrome X-linked

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

TMSB4X Gene

thymosin beta 4, X-linked

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

TMSB4Y Gene

thymosin beta 4, Y-linked

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

UBE2Q2P5Y Gene

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

OFD1P5Y Gene

OFD1 pseudogene 5, Y-linked

CFTDX Gene

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

TCP11X1 Gene

t-complex 11 family, X-linked 1

TCP11X2 Gene

t-complex 11 family, X-linked 2

MRX42 Gene

mental retardation, X-linked 42

MRX40 Gene

mental retardation, X-linked 40

MRX49 Gene

mental retardation, X-linked 49

PRYP2 Gene

PTPN13-like, Y-linked pseudogene 2

PRYP3 Gene

PTPN13-like, Y-linked pseudogene 3

PRYP1 Gene

PTPN13-like, Y-linked pseudogene 1

PRYP4 Gene

PTPN13-like, Y-linked pseudogene 4

USP9YP3 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 3

USP9YP5 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 5

USP9YP4 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 4

USP9YP1 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 1

USP9YP2 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 2

NUDT4P2 Gene

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

NUDT4P1 Gene

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

NUDT15P1 Gene

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

CSPG4P2Y Gene

chondroitin sulfate proteoglycan 4 pseudogene 2, Y-linked

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

CMTX3 Gene

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

CMTX2 Gene

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

NUDT16 Gene

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

NAALADL2 Gene

N-acetylated alpha-linked acidic dipeptidase-like 2

NAALADL1 Gene

N-acetylated alpha-linked acidic dipeptidase-like 1

TRIM60P2Y Gene

tripartite motif containing 60 pseudogene 2, Y-linked

BPY2DP Gene

basic charge, Y-linked, 2D, pseudogene

DFN5 Gene

deafness, X-linked 5

DFN8 Gene

deafness, X-linked 8

NUDT9P1 Gene

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

SPG16 Gene

spastic paraplegia 16 (complicated, X-linked recessive)

FAM197Y2 Gene

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

FAM197Y1 Gene

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

FAM197Y5 Gene

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

FAM197Y8 Gene

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

FAM197Y9 Gene

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

GOLGA2P3Y Gene

golgin A2 pseudogene 3, Y-linked

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

OFD1P6Y Gene

OFD1 pseudogene 6, Y-linked

SNX18P1Y Gene

sorting nexin 18 pseudogene 1, Y-linked

INDX Gene

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

USP9YP11 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 11

USP9YP10 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 10

USP9YP13 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 13

USP9YP12 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 12

FAM41AY1 Gene

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

FAM41AY2 Gene

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

MRX37 Gene

mental retardation, X-linked 37

MRX35 Gene

mental retardation, X-linked 35

MRX31 Gene

mental retardation, X-linked 31

MRX39 Gene

mental retardation, X-linked 39

TXLNGY Gene

taxilin gamma pseudogene, Y-linked

ZXDB Gene

zinc finger, X-linked, duplicated B

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

ZXDA Gene

zinc finger, X-linked, duplicated A

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

TRIM60P6Y Gene

tripartite motif containing 60 pseudogene 6, Y-linked

XKRYP6 Gene

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

XKRYP4 Gene

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

XKRYP5 Gene

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

XKRYP2 Gene

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

XKRYP3 Gene

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

XKRYP1 Gene

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

ARMCX6 Gene

armadillo repeat containing, X-linked 6

ARMCX5 Gene

armadillo repeat containing, X-linked 5

ARMCX4 Gene

armadillo repeat containing, X-linked 4

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

ARMCX3 Gene

armadillo repeat containing, X-linked 3

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

ARMCX2 Gene

armadillo repeat containing, X-linked 2

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

ARMCX1 Gene

armadillo repeat containing, X-linked 1

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

TBL1YP1 Gene

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

DFNX3 Gene

deafness, X-linked 3

PRORY Gene

proline rich, Y-linked

ALG1L5P Gene

asparagine-linked glycosylation 1-like 5, pseudogene

TTTY26P Gene

testis-specific transcript, Y-linked 26, pseudogene

OFD1P12Y Gene

OFD1 pseudogene 12, Y-linked

HYSP4 Gene

Hypospadias 4, X-linked, susceptibilty to

HSFY1 Gene

heat shock transcription factor, Y-linked 1

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

HSFY2 Gene

heat shock transcription factor, Y linked 2

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

PABY Gene

pseudoautosomal boundary region, Y-linked

PABX Gene

pseudoautosomal boundary region, X-linked

TRIM60P5Y Gene

tripartite motif containing 60 pseudogene 5, Y-linked

RP2 Gene

retinitis pigmentosa 2 (X-linked recessive)

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

RP6 Gene

retinitis pigmentosa 6 (X-linked recessive)

MRXS17 Gene

Mental retardation, X-linked, syndromic 17

MRXS12 Gene

Mental retardation, X-linked, syndromic 12

MRXS11 Gene

mental retardation, X-linked, syndromic 11

HEY Gene

hairy ears, Y-linked

NUDT22 Gene

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

NUDT21 Gene

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

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

USP9YP22 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 22

USP9YP23 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 23

OFD1P3Y Gene

OFD1 pseudogene 3, Y-linked

HSFY3P Gene

heat shock transcription factor, Y-linked 3, pseudogene

AUNX1 Gene

auditory neuropathy, X-linked recessive 1

MXRA5Y Gene

matrix-remodelling associated 5, Y-linked, pseudogene

MRX69 Gene

mental retardation, X-linked 69

MRX64 Gene

mental retardation, X-linked 64

MRX65 Gene

mental retardation, X-linked 65

MRX61 Gene

mental retardation, X-linked 61

AGMX2 Gene

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

FAM199X Gene

family with sequence similarity 199, X-linked

S12 Gene

surface antigen (X-linked) 3

S11 Gene

surface antigen (X-linked) 2

DHRSX Gene

dehydrogenase/reductase (SDR family) X-linked

AMELX Gene

amelogenin, X-linked

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

AMELY Gene

amelogenin, Y-linked

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

RP24 Gene

retinitis pigmentosa 24 (X-linked recessive)

TRIM60P8Y Gene

tripartite motif containing 60 pseudogene 8, Y-linked

TTTY13C Gene

testis-specific transcript, Y-linked 13C

MRXSA Gene

Armfield X-linked mental retardation syndrome

MRXSL Gene

Lubs X-linked mental retardation syndrome

FAM197Y10 Gene

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

RPY Gene

Retinitis pigmentosa, Y-linked

TMSB4XP3 Gene

thymosin beta 4, X-linked pseudogene 3

TTTY29P Gene

testis-specific transcript, Y-linked 29, pseudogene

COD2 Gene

cone dystrophy 2 (X-linked)

OFD1P11Y Gene

OFD1 pseudogene 11, Y-linked

NAALAD2 Gene

N-acetylated alpha-linked acidic dipeptidase 2

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

VCX Gene

variable charge, X-linked

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

VCY Gene

variable charge, Y-linked

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

ILKAP Gene

integrin-linked kinase-associated serine/threonine phosphatase

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

EIF1AX Gene

eukaryotic translation initiation factor 1A, X-linked

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

EIF1AY Gene

eukaryotic translation initiation factor 1A, Y-linked

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

LOC101928917 Gene

heat shock transcription factor, X-linked-like

PHEX Gene

phosphate regulating endopeptidase homolog, X-linked

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

NUDT12 Gene

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

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

NUDT13 Gene

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

NUDT10 Gene

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

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

NUDT11 Gene

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

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

NUDT17 Gene

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

NUDT14 Gene

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

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

NUDT15 Gene

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

NUDT18 Gene

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

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

NUDT19 Gene

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

ALG1L8P Gene

asparagine-linked glycosylation 1-like 8, pseudogene

NUDT16L1 Gene

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

OFD1P4Y Gene

OFD1 pseudogene 4, Y-linked

MRX57 Gene

mental retardation, X-linked 57

MRX56 Gene

mental retardation, X-linked 56

MRX51 Gene

mental retardation, X-linked 51

MRX50 Gene

mental retardation, X-linked 50

MRX53 Gene

mental retardation, X-linked 53

MRX52 Gene

mental retardation, X-linked 52

MCS Gene

Miles-Carpenter X-linked mental retardation syndrome

BPY2 Gene

basic charge, Y-linked, 2

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

TRIM60P1Y Gene

tripartite motif containing 60 pseudogene 1, Y-linked

ALG1L6P Gene

asparagine-linked glycosylation 1-like 6, pseudogene

NUDT15P2 Gene

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

CSPG4P3Y Gene

chondroitin sulfate proteoglycan 4 pseudogene 3, Y-linked

HPCX2 Gene

Prostate cancer, hereditary, X-linked 2

NUDT21P1 Gene

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

OFD1P14Y Gene

OFD1 pseudogene 14, Y-linked

USP9YP7 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 7

USP9YP6 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 6

USP9YP9 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 9

USP9YP8 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 8

AMCX5 Gene

arthrogryposis, X-linked, type 5

PRS Gene

Prieto X-linked mental retardation syndrome

PRY Gene

PTPN13-like, Y-linked

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

TTTY24P Gene

testis-specific transcript, Y-linked 24, pseudogene

NUDT8 Gene

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

NUDT9 Gene

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

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

NUDT1 Gene

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

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

NUDT2 Gene

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

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

NUDT3 Gene

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

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

NUDT4 Gene

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

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

NUDT5 Gene

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

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

NUDT6 Gene

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

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

NUDT7 Gene

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

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

ALG1L15P Gene

asparagine-linked glycosylation 1-like 15, pseudogene

ALG1L12P Gene

asparagine-linked glycosylation 1-like 12, pseudogene

MRX66 Gene

mental retardation, X-linked 66

MRX67 Gene

mental retardation, X-linked 67

GOLGA2P2Y Gene

golgin A2 pseudogene 2, Y-linked

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

OFD1P9Y Gene

OFD1 pseudogene 9, Y-linked

HSFY4P Gene

heat shock transcription factor, Y-linked 4, pseudogene

TGIF2LY Gene

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

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

TGIF2LX Gene

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

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

LOC347674 Gene

armadillo repeat containing, X-linked 2 pseudogene

USP27X Gene

ubiquitin specific peptidase 27, X-linked

CCCSX Gene

Cerebral-cerebellar-coloboma syndrome, X-linked

EIF1AXP1 Gene

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

OFD1P1Y Gene

OFD1 pseudogene 1, Y-linked

MRX5 Gene

mental retardation, X-linked 5

MRX4 Gene

mental retardation, X-linked 4

MRX7 Gene

mental retardation, X-linked 7

MRX6 Gene

mental retardation, X-linked 6 (Okinawa type)

XGY1 Gene

Xg pseudogene, Y-linked 1

XGY2 Gene

Xg pseudogene, Y-linked 2

FAM197Y3 Gene

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

ALG1L14P Gene

asparagine-linked glycosylation 1-like 14, pseudogene

ALG1L3P Gene

asparagine-linked glycosylation 1-like 3, pseudogene

XKRY2 Gene

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

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

VCY1B Gene

variable charge, Y-linked 1B

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

TRIM60P12Y Gene

tripartite motif containing 60 pseudogene 12, Y-linked

MRX8 Gene

mental retardation, X-linked 8

HSFY1P1 Gene

heat shock transcription factor, Y-linked 1 pseudogene 1

VCX2 Gene

variable charge, X-linked 2

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

MRX82 Gene

mental retardation, X-linked 82

MRX80 Gene

mental retardation, X-linked 80

MRX81 Gene

mental retardation, X-linked 81

MRX86 Gene

mental retardation, X-linked 86

MRX84 Gene

mental retardation, X-linked 84

MRX88 Gene

Mental retardation, X-linked 88

MRX89 Gene

Mental retardation, X-linked 89

FAM197Y6 Gene

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

FAM197Y4 Gene

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

TTTY27P Gene

testis-specific transcript, Y-linked 27, pseudogene

OFD1P13Y Gene

OFD1 pseudogene 13, Y-linked

CMR3A Gene

cardiomyopathy, restrictive 3A (X-linked)

MRX28 Gene

mental retardation, X-linked 28

SPGFX2 Gene

Spermatogenic failure, X-linked, 2

ARMCX7P Gene

armadillo repeat containing, X-linked 7, pseudogene

DELXP22.11 Gene

Autism, X-linked, susceptibility to, 4

PRY2 Gene

PTPN13-like, Y-linked 2

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

TRIM60P10Y Gene

tripartite motif containing 60 pseudogene 10, Y-linked

XECD Gene

Corneal dystrophy, endothelial, X-linked

MRXSCS Gene

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

OFD1P2Y Gene

OFD1 pseudogene 2, Y-linked

MRX73 Gene

mental retardation, X-linked 73

MRX71 Gene

mental retardation, X-linked 71

MRX70 Gene

mental retardation, X-linked 70

MRX75 Gene

mental retardation, X-linked 75

TBL1X Gene

transducin (beta)-like 1X-linked

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

TBL1Y Gene

transducin (beta)-like 1, Y-linked

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

TTTY31P Gene

testis-specific transcript, Y-linked 31, pseudogene

TMSB4XP7 Gene

thymosin beta 4, X-linked pseudogene 7

TMSB4XP5 Gene

thymosin beta 4, X-linked pseudogene 5

TMSB4XP2 Gene

thymosin beta 4, X-linked pseudogene 2

TMSB4XP1 Gene

thymosin beta 4, X-linked pseudogene 1

TMSB4XP8 Gene

thymosin beta 4, X-linked pseudogene 8

INGX Gene

inhibitor of growth family, X-linked, pseudogene

MRXS7 Gene

mental retardation, X-linked, syndromic 7

TRIM60P11Y Gene

tripartite motif containing 60 pseudogene 11, Y-linked

ILK Gene

integrin-linked kinase

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

TBL1XR1 Gene

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

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

MRSS Gene

Mental retardation, X-linked, with short stature

CSPG4P1Y Gene

chondroitin sulfate proteoglycan 4 pseudogene 1, Y-linked

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

OFD1P16Y Gene

OFD1 pseudogene 16, Y-linked

TRIM60P3Y Gene

tripartite motif containing 60 pseudogene 3, Y-linked

THCYTX Gene

Thrombocytosis, familial X-linked

MRX77 Gene

mental retardation, X-linked 77

MRX78 Gene

mental retardation, X-linked 78

VCX3B Gene

variable charge, X-linked 3B

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

VCX3A Gene

variable charge, X-linked 3A

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

EOGT Gene

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

SCAX2 Gene

spinocerebellar ataxia, X-linked 2

SCAX3 Gene

spinocerebellar ataxia, X-linked 3

SCAX4 Gene

spinocerebellar ataxia, X-linked 4

SCAX5 Gene

Spinocerebellar ataxia, X-linked 5

TRIM60P9Y Gene

tripartite motif containing 60 pseudogene 9, Y-linked

PCDH11X Gene

protocadherin 11 X-linked

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

PCDH11Y Gene

protocadherin 11 Y-linked

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

NUDT19P2 Gene

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

ALG1L9P Gene

asparagine-linked glycosylation 1-like 9, pseudogene

LOC101927685 Gene

heat shock transcription factor, X-linked-like

USP9YP19 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 19

DDX3X Gene

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

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

DDX3Y Gene

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

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

OFD1P7Y Gene

OFD1 pseudogene 7, Y-linked

MAGIX Gene

MAGI family member, X-linked

IDDMX Gene

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

XKRY Gene

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

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

XKRX Gene

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

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

SNX3P1X Gene

sorting nexin 3 pseudogene 1, X-linked

SNX3P1Y Gene

sorting nexin 3 pseudogene 1, Y-linked

MYP1 Gene

myopia 1 (X-linked)

TMSB4XP6 Gene

thymosin beta 4, X-linked pseudogene 6

TMSB4XP4 Gene

thymosin beta 4, X-linked pseudogene 4

USP12PX Gene

ubiquitin specific peptidase 12 pseudogene, X-linked

USP12PY Gene

ubiquitin specific peptidase 12 pseudogene, Y-linked

MRX20 Gene

mental retardation, X-linked 20

MRX23 Gene

mental retardation, X-linked 23

MRX24 Gene

mental retardation, X-linked 24

MRX25 Gene

mental retardation, X-linked 25

MRX26 Gene

mental retardation, X-linked 26

MRX27 Gene

mental retardation, X-linked 27

NUDT16P1 Gene

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

TTTY30P Gene

testis-specific transcript, Y-linked 30, pseudogene

OFD1P15Y Gene

OFD1 pseudogene 15, Y-linked

FAM197Y7 Gene

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

TRIM60P4Y Gene

tripartite motif containing 60 pseudogene 4, Y-linked

LOC100421513 Gene

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

DFNY1 Gene

deafness, Y-linked 1

CSPG4P4Y Gene

chondroitin sulfate proteoglycan 4 pseudogene 4, Y-linked

LOC100630919 Gene

thymosin beta 4, X-linked pseudogene

TP53I3 Gene

tumor protein p53 inducible protein 3

The protein encoded by this gene is similar to oxidoreductases, which are enzymes involved in cellular responses to oxidative stresses and irradiation. This gene is induced by the tumor suppressor p53 and is thought to be involved in p53-mediated cell death. It contains a p53 consensus binding site in its promoter region and a downstream pentanucleotide microsatellite sequence. P53 has been shown to transcriptionally activate this gene by interacting with the downstream pentanucleotide microsatellite sequence. The microsatellite is polymorphic, with a varying number of pentanucleotide repeats directly correlated with the extent of transcriptional activation by p53. It has been suggested that the microsatellite polymorphism may be associated with differential susceptibility to cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

LOC100533940 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC101927309 Gene

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

LOC100288073 Gene

heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) pseudogene

G3BP1 Gene

GTPase activating protein (SH3 domain) binding protein 1

This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

RASA1 Gene

RAS p21 protein activator (GTPase activating protein) 1

The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]

PPFIA4 Gene

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4

PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008]

LOC101928777 Gene

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

LOC644172 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

LOC644909 Gene

ligand of numb-protein X 1, E3 ubiquitin protein ligase pseudogene

MYCBP2 Gene

MYC binding protein 2, E3 ubiquitin protein ligase

MAPKAPK5 Gene

mitogen-activated protein kinase-activated protein kinase 5

The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012]

MAPKAPK3 Gene

mitogen-activated protein kinase-activated protein kinase 3

This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]

MAPKAPK2 Gene

mitogen-activated protein kinase-activated protein kinase 2

This gene encodes a member of the Ser/Thr protein kinase family. This kinase is regulated through direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including stress and inflammatory responses, nuclear export, gene expression regulation and cell proliferation. Heat shock protein HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GNG5P4 Gene

guanine nucleotide binding protein (G protein), gamma 5 pseudogene 4

TP53I11 Gene

tumor protein p53 inducible protein 11

RNF128 Gene

ring finger protein 128, E3 ubiquitin protein ligase

The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin ligase activity. Expression of this gene in retrovirally transduced T cell hybridoma significantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this gene was observed in anergic CD4(+) T cells, which suggested a role in the induction of anergic phenotype. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

RNF125 Gene

ring finger protein 125, E3 ubiquitin protein ligase

This gene encodes a novel E3 ubiquitin ligase that contains a RING finger domain in the N-terminus and three zinc-binding and one ubiquitin-interacting motif in the C-terminus. As a result of myristoylation, this protein associates with membranes and is primarily localized to intracellular membrane systems. The encoded protein may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq, Mar 2012]

MAPK1IP1L Gene

mitogen-activated protein kinase 1 interacting protein 1-like

GNG10P1 Gene

guanine nucleotide binding protein (G protein), gamma 10 pseudogene 1

APBB1IP Gene

amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein

GNG5P1 Gene

guanine nucleotide binding protein (G protein), gamma 5 pseudogene 1

GNG5P3 Gene

guanine nucleotide binding protein (G protein), gamma 5 pseudogene 3

GNG5P2 Gene

guanine nucleotide binding protein (G protein), gamma 5 pseudogene 2

GNG5P5 Gene

guanine nucleotide binding protein (G protein), gamma 5 pseudogene 5

LOC100422713 Gene

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 pseudogene

LOC100422710 Gene

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 pseudogene

TP53I13 Gene

tumor protein p53 inducible protein 13

PTPRCAP Gene

protein tyrosine phosphatase, receptor type, C-associated protein

The protein encoded by this gene was identified as a transmembrane phosphoprotein specifically associated with tyrosine phosphatase PTPRC/CD45, a key regulator of T- and B-lymphocyte activation. The interaction with PTPRC may be required for the stable expression of this protein. [provided by RefSeq, Jul 2008]

LOC101927789 Gene

putative ubiquitin-like protein FUBI-like protein ENSP00000310146

MAPKBP1 Gene

mitogen-activated protein kinase binding protein 1

LOC102724042 Gene

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

GNB2L1 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1

TP53BP1 Gene

tumor protein p53 binding protein 1

TP53BP2 Gene

tumor protein p53 binding protein 2

This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LOC102723528 Gene

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

MAPK8IPP Gene

mitogen-activated protein kinase 8 interacting protein, pseudogene

LOC346329 Gene

guanine nucleotide binding protein (G protein), alpha 11 (Gq class) pseudogene

RNF138P1 Gene

ring finger protein 138, E3 ubiquitin protein ligase pseudogene 1

LRPAP1 Gene

low density lipoprotein receptor-related protein associated protein 1

This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

LOC100287794 Gene

double homeobox protein 4-like protein 4

GNA14 Gene

guanine nucleotide binding protein (G protein), alpha 14

This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009]

GNA15 Gene

guanine nucleotide binding protein (G protein), alpha 15 (Gq class)

GNA12 Gene

guanine nucleotide binding protein (G protein) alpha 12

GNA13 Gene

guanine nucleotide binding protein (G protein), alpha 13

GNA11 Gene

guanine nucleotide binding protein (G protein), alpha 11 (Gq class)

The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]

PRKCDBP Gene

protein kinase C, delta binding protein

The protein encoded by this gene was identified as a binding protein of the protein kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation. The expression of this protein was found to be down-regulated in various cancer cell lines, suggesting the possible tumor suppressor function of this protein. [provided by RefSeq, Jul 2008]

TP53AIP1 Gene

tumor protein p53 regulated apoptosis inducing protein 1

This gene is specifically expressed in the thymus, and encodes a protein that is localized to the mitochondrion. The expression of this gene is inducible by p53, and it is thought to play an important role in mediating p53-dependent apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

NUFIP2 Gene

nuclear fragile X mental retardation protein interacting protein 2

NUFIP1 Gene

nuclear fragile X mental retardation protein interacting protein 1

This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]

RNF19A Gene

ring finger protein 19A, RBR E3 ubiquitin protein ligase

This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GNG7 Gene

guanine nucleotide binding protein (G protein), gamma 7

GNG4 Gene

guanine nucleotide binding protein (G protein), gamma 4

GNG5 Gene

guanine nucleotide binding protein (G protein), gamma 5

G proteins are trimeric (alpha-beta-gamma) membrane-associated proteins that regulate flow of information from cell surface receptors to a variety of internal metabolic effectors. Interaction of a G protein with its activated receptor promotes exchange of GTP for GDP that is bound to the alpha subunit. The alpha-GTP complex dissociates from the beta-gamma heterodimer so that the subunits, in turn, may interact with and regulate effector molecules (Gilman, 1987 [PubMed 3113327]; summary by Ahmad et al., 1995) [PubMed 7606925].[supplied by OMIM, Nov 2010]

GNG2 Gene

guanine nucleotide binding protein (G protein), gamma 2

This gene encodes one of the gamma subunits of a guanine nucleotide-binding protein. Such proteins are involved in signaling mechanisms across membranes. Various subunits forms heterodimers which then interact with the different signal molecules. [provided by RefSeq, Aug 2011]

GNG3 Gene

guanine nucleotide binding protein (G protein), gamma 3

Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The gamma subunit determines the specificity of which signaling pathways will be affected by this particular complex. The protein encoded by this gene represents the gamma subunit of both inhibitory and stimulatory complexes. [provided by RefSeq, Jan 2012]

GNG8 Gene

guanine nucleotide binding protein (G protein), gamma 8

LOC101930078 Gene

double homeobox protein 4-like protein 4

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]

SKP2 Gene

S-phase kinase-associated protein 2, E3 ubiquitin protein ligase

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011]

LOC101928467 Gene

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

PPFIBP1 Gene

PTPRF interacting protein, binding protein 1 (liprin beta 1)

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

PPFIBP2 Gene

PTPRF interacting protein, binding protein 2 (liprin beta 2)

This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

LOC728098 Gene

mitogen-activated protein kinase 1 interacting protein 1-like pseudogene

LCP2 Gene

lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)

SLP-76 was originally identified as a substrate of the ZAP-70 protein tyrosine kinase following T cell receptor (TCR) ligation in the leukemic T cell line Jurkat. The SLP-76 locus has been localized to human chromosome 5q33 and the gene structure has been partially characterized in mice. The human and murine cDNAs both encode 533 amino acid proteins that are 72% identical and comprised of three modular domains. The NH2-terminus contains an acidic region that includes a PEST domain and several tyrosine residues which are phosphorylated following TCR ligation. SLP-76 also contains a central proline-rich domain and a COOH-terminal SH2 domain. A number of additional proteins have been identified that associate with SLP-76 both constitutively and inducibly following receptor ligation, supporting the notion that SLP-76 functions as an adaptor or scaffold protein. Studies using SLP-76 deficient T cell lines or mice have provided strong evidence that SLP-76 plays a positive role in promoting T cell development and activation as well as mast cell and platelet function. [provided by RefSeq, Jul 2008]

GNAQP1 Gene

guanine nucleotide binding protein (G protein), q polypeptide pseudogene 1

MAPK8IP1 Gene

mitogen-activated protein kinase 8 interacting protein 1

This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011]

MAPK8IP2 Gene

mitogen-activated protein kinase 8 interacting protein 2

The protein encoded by this gene is closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. [provided by RefSeq, Feb 2014]

MAPK8IP3 Gene

mitogen-activated protein kinase 8 interacting protein 3

The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

PAIP1P1 Gene

poly(A) binding protein interacting protein 1 pseudogene 1

LOC105373377 Gene

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

GNB5 Gene

guanine nucleotide binding protein (G protein), beta 5

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

GNB4 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 4

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]

GNB1 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 1

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GNB3 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 3

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]

GNB2 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 2

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008]

PAIP2 Gene

poly(A) binding protein interacting protein 2

PAIP1 Gene

poly(A) binding protein interacting protein 1

The protein encoded by this gene interacts with poly(A)-binding protein and with the cap-binding complex eIF4A. It is involved in translational initiation and protein biosynthesis. Overexpression of this gene in COS7 cells stimulates translation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

NUFIP1P Gene

nuclear fragile X mental retardation protein interacting protein 1 pseudogene

GPRASP2 Gene

G protein-coupled receptor associated sorting protein 2

The protein encoded by this gene is a member of a family that regulates the activity of G protein-coupled receptors (GPCRs). The encoded protein has been shown to be capable of interacting with several GPCRs, including the M1 muscarinic acetylcholine receptor and the calcitonin receptor. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

GPRASP1 Gene

G protein-coupled receptor associated sorting protein 1

This gene encodes a member of the GPRASP (G protein-coupled receptor associated sorting protein) family. The protein may modulate lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. It targets receptors for degradation in lysosomes. The receptors interacting with this sorting protein include D2 dopamine receptor (DRD2), delta opioid receptor (OPRD1), beta-2 adrenergic receptor (ADRB2), D4 dopamine receptor (DRD4) and cannabinoid 1 receptor (CB1R). Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, May 2010]

GNAI2P2 Gene

guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 2

GNAI2P1 Gene

guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 1

TP53BP2P1 Gene

tumor protein p53 binding protein 2 pseudogene 1

RNF138P2 Gene

ring finger protein 138, E3 ubiquitin protein ligase pseudogene 2

LOC648044 Gene

guanine nucleotide binding protein (G protein), gamma 12-like

MAP3K1 Gene

mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase

The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]

APPBP2 Gene

amyloid beta precursor protein (cytoplasmic tail) binding protein 2

The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

RAMP1 Gene

receptor (G protein-coupled) activity modifying protein 1

The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP1) protein, CRLR functions as a CGRP receptor. The RAMP1 protein is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

RAMP3 Gene

receptor (G protein-coupled) activity modifying protein 3

The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP3) protein, CRLR functions as an adrenomedullin receptor. [provided by RefSeq, Jul 2008]

RAMP2 Gene

receptor (G protein-coupled) activity modifying protein 2

The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP2) protein, CRLR functions as an adrenomedullin receptor. The RAMP2 protein is involved in core glycosylation and transportation of adrenomedullin receptor to the cell surface. [provided by RefSeq, Jul 2008]

TP53INP1 Gene

tumor protein p53 inducible nuclear protein 1

TP53INP2 Gene

tumor protein p53 inducible nuclear protein 2

RNF34 Gene

ring finger protein 34, E3 ubiquitin protein ligase

The protein encoded by this gene contains a RINF finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein interacts with DNAJA3/hTid-1, which is a DnaJ protein reported to function as a modulator of apoptosis. Overexpression of this gene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, suggesting an anti-apoptotic function of this protein. This protein can be cleaved by caspase-3 during the induction of apoptosis. This protein also targets p53 and phospho-p53 for degradation. Alternatively splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]

TP53COR1 Gene

tumor protein p53 pathway corepressor 1 (non-protein coding)

LOC100130500 Gene

S-phase kinase-associated protein 2, E3 ubiquitin protein ligase pseudogene

LOC100533943 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC100533942 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC100533941 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC100533949 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

RNF138 Gene

ring finger protein 138, E3 ubiquitin protein ligase

The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

GNAQ Gene

guanine nucleotide binding protein (G protein), q polypeptide

This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]

GNAZ Gene

guanine nucleotide binding protein (G protein), alpha z polypeptide

The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008]

GNAL Gene

guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type

This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

RNF8 Gene

ring finger protein 8, E3 ubiquitin protein ligase

The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

RNF5 Gene

ring finger protein 5, E3 ubiquitin protein ligase

The protein encoded by this gene contains a RING finger, which is a motif known to be involved in protein-protein interactions. This protein is a membrane-bound ubiquitin ligase. It can regulate cell motility by targeting paxillin ubiquitination and altering the distribution and localization of paxillin in cytoplasm and cell focal adhesions. [provided by RefSeq, Jul 2008]

TMEM129 Gene

transmembrane protein 129, E3 ubiquitin protein ligase

RNF5P1 Gene

ring finger protein 5, E3 ubiquitin protein ligase pseudogene 1

GNG10 Gene

guanine nucleotide binding protein (G protein), gamma 10

GNG11 Gene

guanine nucleotide binding protein (G protein), gamma 11

This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. [provided by RefSeq, Jul 2008]

GNG12 Gene

guanine nucleotide binding protein (G protein), gamma 12

GNG13 Gene

guanine nucleotide binding protein (G protein), gamma 13

Heterotrimeric G proteins, which consist of alpha (see MIM 139320), beta (see MIM 139380), and gamma subunits, function as signal transducers for the 7-transmembrane-helix G protein-coupled receptors. GNG13 is a gamma subunit that is expressed in taste, retinal, and neuronal tissues and plays a key role in taste transduction (Li et al., 2006 [PubMed 16473877]).[supplied by OMIM, Oct 2009]

ELK3 Gene

ELK3, ETS-domain protein (SRF accessory protein 2)

This gene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

ELK4 Gene

ELK4, ETS-domain protein (SRF accessory protein 1)

This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. Several transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]

GNAO1 Gene

guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O

GNAT1 Gene

guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]

GNAT2 Gene

guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008]

LOC100418622 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC100418623 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC100418620 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC101928960 Gene

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

PAIP2B Gene

poly(A) binding protein interacting protein 2B

Most mRNAs, except for histones, contain a 3-prime poly(A) tail. Poly(A)-binding protein (PABP; see MIM 604679) enhances translation by circularizing mRNA through its interaction with the translation initiation factor EIF4G1 (MIM 600495) and the poly(A) tail. Various PABP-binding proteins regulate PABP activity, including PAIP1 (MIM 605184), a translational stimulator, and PAIP2A (MIM 605604) and PAIP2B, translational inhibitors (Derry et al., 2006 [PubMed 17381337]).[supplied by OMIM, Mar 2008]

LOC391465 Gene

STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase pseudogene

LOC105372731 Gene

CMT1A duplicated region transcript 15 protein-like protein

LOC100422438 Gene

mitogen-activated protein kinase-activated protein kinase 2 pseudogene

HP1BP3 Gene

heterochromatin protein 1, binding protein 3

LOC100418685 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

LOC100418686 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

LOC100418687 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

RNF41 Gene

ring finger protein 41, E3 ubiquitin protein ligase

This gene encodes an E3 ubiquitin ligase. The encoded protein plays a role in type 1 cytokine receptor signaling by controlling the balance between JAK2-associated cytokine receptor degradation and ectodomain shedding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]

LOC102724961 Gene

double homeobox protein 4-like protein 4

RPS19BP1 Gene

ribosomal protein S19 binding protein 1

LOC100533938 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC100533939 Gene

poly(A) binding protein interacting protein 1 pseudogene

RNF168 Gene

ring finger protein 168, E3 ubiquitin protein ligase

This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]

ZIK1P1 Gene

zinc finger protein interacting with K protein 1 pseudogene 1

G3BP2 Gene

GTPase activating protein (SH3 domain) binding protein 2

PPFIA2 Gene

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

PPFIA3 Gene

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008]

PPFIA1 Gene

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1

The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

RGS7BP Gene

regulator of G-protein signaling 7 binding protein

This gene encodes a protein that binds to all members of the R7 subfamily of regulators of G protein signaling and regulates their translocation between the nucleus and the plasma membrane. The encoded protein could be regulated by reversible palmitoylation, which anchors it to the plasma membrane. Depalmitoylation localizes the protein to the nucleus. Polymorphisms in this gene may be associated with risk of aspirin-exacerbated respiratory disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]

LOC101930525 Gene

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

LNX1 Gene

ligand of numb-protein X 1, E3 ubiquitin protein ligase

This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008]

NAB1 Gene

NGFI-A binding protein 1 (EGR1 binding protein 1)

NAB2 Gene

NGFI-A binding protein 2 (EGR1 binding protein 2)

This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

LOC100289060 Gene

guanine nucleotide binding protein (G protein), gamma 10 pseudogene

MAPKAPK5P1 Gene

mitogen-activated protein kinase-activated protein kinase 5 pseudogene 1

CCNB1IP1 Gene

cyclin B1 interacting protein 1, E3 ubiquitin protein ligase

HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM, Apr 2004]

CSRP3 Gene

cysteine and glycine-rich protein 3 (cardiac LIM protein)

This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

SERPINH1 Gene

serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)

This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. 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, May 2011]

LOC105374753 Gene

class E vacuolar protein-sorting machinery protein hse1-like

RGS9BP Gene

regulator of G protein signaling 9 binding protein

The protein encoded by this gene functions as a regulator of G protein-coupled receptor signaling in phototransduction. Studies in bovine and mouse show that this gene is expressed only in the retina, and is localized in the rod outer segment membranes. This protein is associated with a heterotetrameric complex, specifically interacting with the regulator of G-protein signaling 9, and appears to function as the membrane anchor for the other largely soluble interacting partners. Mutations in this gene are associated with prolonged electroretinal response suppression (PERRS), also known as bradyopsia. [provided by RefSeq, Mar 2010]

LOC100287954 Gene

double homeobox protein 4-like protein 4

LOC653503 Gene

guanine nucleotide binding protein (G protein), gamma 10 pseudogene

GNAI2 Gene

guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2

The protein encoded by this gene is an alpha subunit of guanine nucleotide binding proteins (G proteins). The encoded protein contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

GNAI3 Gene

guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012]

GNAI1 Gene

guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1

Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

LOC100418619 Gene

poly(A) binding protein interacting protein 1 pseudogene

MAPKAP1 Gene

mitogen-activated protein kinase associated protein 1

This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008]

RNF40 Gene

ring finger protein 40, E3 ubiquitin protein ligase

The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

LOC100422559 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 pseudogene

LOC100287823 Gene

double homeobox protein 4-like protein 4

LOC102723438 Gene

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

RNF20 Gene

ring finger protein 20, E3 ubiquitin protein ligase

The protein encoded by this gene shares similarity with BRE1 of S. cerevisiae. The protein encoded by this human gene is an E3 ubiquitin ligase that regulates chromosome structure by monoubiquitinating histone H2B. This protein acts as a putative tumor suppressor and positively regulates the p53 tumor suppressor as well as numerous histone H2A and H2B genes. In contrast, this protein also suppresses the expression of several protooncogenes and growth-related genes, including many genes that are induced by epidermal growth factor. This gene selectively suppresses the expression of some genes by interfering with chromatin recruitment of transcription elongation factor SII (TFIIS). [provided by RefSeq, Feb 2012]

ZIK1 Gene

zinc finger protein interacting with K protein 1

LOC100422338 Gene

GTPase activating protein (SH3 domain) binding protein 1 pseudogene

LOC100422337 Gene

guanine nucleotide binding protein (G protein), alpha 13 pseudogene

LOC100533950 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

LOC100533951 Gene

mitogen-activated protein kinase 8 interacting protein 1 pseudogene

VCPIP1 Gene

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

LOC100533937 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC105374377 Gene

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

GNB1L Gene

guanine nucleotide binding protein (G protein), beta polypeptide 1-like

This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]

LOC100418624 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC100418625 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC100418621 Gene

poly(A) binding protein interacting protein 1 pseudogene

HSPA5 Gene

heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)

The protein encoded by this gene is a member of the heat shock protein 70 (HSP70) family. It is localized in the lumen of the endoplasmic reticulum (ER), and is involved in the folding and assembly of proteins in the ER. As this protein interacts with many ER proteins, it may play a key role in monitoring protein transport through the cell.[provided by RefSeq, Sep 2010]

LOC100422561 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 pseudogene

LOC100422562 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 pseudogene

LOC400750 Gene

heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) pseudogene

AP1AR Gene

adaptor-related protein complex 1 associated regulatory protein

LOC645139 Gene

poly(A) binding protein interacting protein 1 pseudogene

LOC286456 Gene

NGFI-A binding protein 1 (EGR1 binding protein 1) pseudogene

STUB1 Gene

STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase

This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]

TYROBP Gene

TYRO protein tyrosine kinase binding protein

This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]

GNGT2 Gene

guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2

Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2010]

GNGT1 Gene

guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1

Heterotrimeric guanine nucleotide-binding proteins (G proteins) transduce extracellular signals received by transmembrane receptors to effector proteins. Transducin is a guanine nucleotide-binding protein found specifically in rod outer segments, where it mediates activation by rhodopsin of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase. Transducin is also referred to as GMPase. GNGT1 encodes the gamma subunit of transducin (Hurley et al., 1984 [PubMed 6438626]; Scherer et al., 1996 [PubMed 8661128]).[supplied by OMIM, Mar 2008]

LOC102724602 Gene

COMM domain-containing protein 6-like

CHMP1B Gene

charged multivesicular body protein 1B

CHMP1B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

LOC643630 Gene

ribosomal protein L7a pseudogene

NSRP1 Gene

nuclear speckle splicing regulatory protein 1

LINC01221 Gene

long intergenic non-protein coding RNA 1221

RPS4XP3 Gene

ribosomal protein S4X pseudogene 3

RPS4XP1 Gene

ribosomal protein S4X pseudogene 1

RPS4XP6 Gene

ribosomal protein S4X pseudogene 6

RPS4XP7 Gene

ribosomal protein S4X pseudogene 7

RPS4XP4 Gene

ribosomal protein S4X pseudogene 4

BCL2A1 Gene

BCL2-related protein A1

This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RPS4XP8 Gene

ribosomal protein S4X pseudogene 8

RPS4XP9 Gene

ribosomal protein S4X pseudogene 9

LOC101928959 Gene

probable ribosome biogenesis protein RLP24 pseudogene

CKS1B Gene

CDC28 protein kinase regulatory subunit 1B

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

RPL31P13 Gene

ribosomal protein L31 pseudogene 13

CRTAP Gene

cartilage associated protein

The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]

HPYR1 Gene

Helicobacter pylori responsive 1 (non-protein coding)

CPEB4 Gene

cytoplasmic polyadenylation element binding protein 4

CPEB1 Gene

cytoplasmic polyadenylation element binding protein 1

This gene encodes a member of the cytoplasmic polyadenylation element binding protein family. This highly conserved protein binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the 3' untranslated region of some mRNAs. The encoded protein functions in both the cytoplasm and the nucleus. It is involved in the regulation of mRNA translation, as well as processing of the 3' untranslated region, and may play a role in cell proliferation and tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

CPEB3 Gene

cytoplasmic polyadenylation element binding protein 3

CPEB2 Gene

cytoplasmic polyadenylation element binding protein 2

The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

LOC105379427 Gene

zinc finger protein 717-like

LOC649935 Gene

UPF0607 protein ENSP00000381514-like

LINC01227 Gene

long intergenic non-protein coding RNA 1227

LOC100131241 Gene

SERPINE1 mRNA binding protein 1 pseudogene

PISRT1 Gene

polled intersex syndrome regulated transcript 1 (non-protein coding RNA)

LOC101927006 Gene

40S ribosomal protein SA-like

AAGAB Gene

alpha- and gamma-adaptin binding protein

The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

LOC101060569 Gene

golgin subfamily A member 6-like protein 1

LOC442041 Gene

zinc finger protein 532 pseudogene

RFPL4AL1 Gene

ret finger protein-like 4A-like 1

LOC100419140 Gene

ribosomal protein L5 pseudogene

RPL12P31 Gene

ribosomal protein L12 pseudogene 31

LOC391600 Gene

transmembrane epididymal protein 1 pseudogene

MRPS31P4 Gene

mitochondrial ribosomal protein S31 pseudogene 4

LOC100287243 Gene

nuclease-sensitive element-binding protein 1 pseudogene

ZNF117 Gene

zinc finger protein 117

ZNF114 Gene

zinc finger protein 114

ZNF112 Gene

zinc finger protein 112

PRKAR2A Gene

protein kinase, cAMP-dependent, regulatory, type II, alpha

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008]

PRKAR2B Gene

protein kinase, cAMP-dependent, regulatory, type II, beta

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding protein 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq, Jul 2008]

TMEM200B Gene

transmembrane protein 200B

RPL12P36 Gene

ribosomal protein L12 pseudogene 36

LOC100420186 Gene

WW domain binding protein 2 pseudogene

KRTAP2-3 Gene

keratin associated protein 2-3

KRTAP2-2 Gene

keratin associated protein 2-2

KRTAP2-1 Gene

keratin associated protein 2-1

KRTAP2-4 Gene

keratin associated protein 2-4

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

RPL12P38 Gene

ribosomal protein L12 pseudogene 38

VMP1 Gene

vacuole membrane protein 1

LOC100420828 Gene

nuclear pore associated protein 1 pseudogene

RPS26P43 Gene

ribosomal protein S26 pseudogene 43

RPS26P42 Gene

ribosomal protein S26 pseudogene 42

RPS26P41 Gene

ribosomal protein S26 pseudogene 41

RPS26P40 Gene

ribosomal protein S26 pseudogene 40

RPS26P47 Gene

ribosomal protein S26 pseudogene 47

RPS26P46 Gene

ribosomal protein S26 pseudogene 46

RPS26P45 Gene

ribosomal protein S26 pseudogene 45

RPS26P44 Gene

ribosomal protein S26 pseudogene 44

RPS26P49 Gene

ribosomal protein S26 pseudogene 49

RPS26P48 Gene

ribosomal protein S26 pseudogene 48

FAM90A10P Gene

putative protein FAM90A10

FAM90A10 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]

LOC389842 Gene

RAN binding protein 1 pseudogene

DLGAP2 Gene

discs, large (Drosophila) homolog-associated protein 2

The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2014]

DLGAP3 Gene

discs, large (Drosophila) homolog-associated protein 3

DLGAP1 Gene

discs, large (Drosophila) homolog-associated protein 1

DLGAP4 Gene

discs, large (Drosophila) homolog-associated protein 4

The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DLGAP5 Gene

discs, large (Drosophila) homolog-associated protein 5

FBXL14 Gene

F-box and leucine-rich repeat protein 14

Members of the F-box protein family, such as FBXL14, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

OIP5 Gene

Opa interacting protein 5

FBXL19 Gene

F-box and leucine-rich repeat protein 19

This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

LOC100421559 Gene

adaptor-related protein complex 5, mu 1 subunit pseudogene

PTPN18 Gene

protein tyrosine phosphatase, non-receptor type 18 (brain-derived)

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

PTPN13 Gene

protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]

PTPN12 Gene

protein tyrosine phosphatase, non-receptor type 12

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

PTPN11 Gene

protein tyrosine phosphatase, non-receptor type 11

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

RPL32P35 Gene

ribosomal protein L32 pseudogene 35

RPL32P32 Gene

ribosomal protein L32 pseudogene 32

RPL32P33 Gene

ribosomal protein L32 pseudogene 33

RPL32P30 Gene

ribosomal protein L32 pseudogene 30

PTPN14 Gene

protein tyrosine phosphatase, non-receptor type 14

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]

TRAPPC6A Gene

trafficking protein particle complex 6A

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

MZB1 Gene

marginal zone B and B1 cell-specific protein

TRAPPC6B Gene

trafficking protein particle complex 6B

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

HSPE1P16 Gene

heat shock 10kDa protein 1 pseudogene 16

HSPE1P12 Gene

heat shock 10kDa protein 1 pseudogene 12

RPL23AP29 Gene

ribosomal protein L23a pseudogene 29

HSPE1P10 Gene

heat shock 10kDa protein 1 pseudogene 10

RPL23AP27 Gene

ribosomal protein L23a pseudogene 27

LOC105378958 Gene

adhesive plaque matrix protein-like

RPL23AP26 Gene

ribosomal protein L23a pseudogene 26

LOC105378957 Gene

basic salivary proline-rich protein 2-like

LOC105378955 Gene

tripartite motif-containing protein LOC642612

LOC105378950 Gene

mitogen-activated protein kinase 7-like

LOC100419801 Gene

zinc finger protein 532 pseudogene

RPL23AP23 Gene

ribosomal protein L23a pseudogene 23

LOC100419803 Gene

zinc finger protein 510 pseudogene

LOC100419802 Gene

zinc finger protein 184 pseudogene

LOC100419806 Gene

zinc finger protein 519 pseudogene

CAMKK2 Gene

calcium/calmodulin-dependent protein kinase kinase 2, beta

The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases. [provided by RefSeq, Jul 2012]

CAMKK1 Gene

calcium/calmodulin-dependent protein kinase kinase 1, alpha

The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

RPL23AP21 Gene

ribosomal protein L23a pseudogene 21

PPP1R1AP2 Gene

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

LOC102724970 Gene

putative uncharacterized protein FLJ35883

LOC102724971 Gene

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

CHMP3 Gene

charged multivesicular body protein 3

This gene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ring finger protein 103 (RNF103) gene. [provided by RefSeq, Nov 2010]

RPL36AL Gene

ribosomal protein L36a-like

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

CHMP7 Gene

charged multivesicular body protein 7

CHMP5 Gene

charged multivesicular body protein 5

CHMP5 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

RPS4XP2 Gene

ribosomal protein S4X pseudogene 2

KRTAP11-1 Gene

keratin associated protein 11-1

LOC729468 Gene

putative PGM5-like protein 1

LOC101060086 Gene

cell cycle exit and neuronal differentiation protein 1-like

RPL35AP Gene

ribosomal protein L35a pseudogene

EBP Gene

emopamil binding protein (sterol isomerase)

The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]

LINC01091 Gene

long intergenic non-protein coding RNA 1091

LINC01090 Gene

long intergenic non-protein coding RNA 1090

LINC01093 Gene

long intergenic non-protein coding RNA 1093

LINC01095 Gene

long intergenic non-protein coding RNA 1095

LINC01094 Gene

long intergenic non-protein coding RNA 1094

LINC01097 Gene

long intergenic non-protein coding RNA 1097

LINC01096 Gene

long intergenic non-protein coding RNA 1096

LINC01098 Gene

long intergenic non-protein coding RNA 1098

PTPMT1 Gene

protein tyrosine phosphatase, mitochondrial 1

LINC00320 Gene

long intergenic non-protein coding RNA 320

LINC00323 Gene

long intergenic non-protein coding RNA 323

LINC00324 Gene

long intergenic non-protein coding RNA 324

LINC00326 Gene

long intergenic non-protein coding RNA 326

LINC00327 Gene

long intergenic non-protein coding RNA 327

LINC00328 Gene

long intergenic non-protein coding RNA 328

RAB3GAP2 Gene

RAB3 GTPase activating protein subunit 2 (non-catalytic)

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

RAB3GAP1 Gene

RAB3 GTPase activating protein subunit 1 (catalytic)

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

SGSM3 Gene

small G protein signaling modulator 3

RPL35P7 Gene

ribosomal protein L35 pseudogene 7

LOC105370045 Gene

filamin-interacting protein FAM101A

GGA1 Gene

golgi-associated, gamma adaptin ear containing, ARF binding protein 1

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GGA3 Gene

golgi-associated, gamma adaptin ear containing, ARF binding protein 3

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]

GGA2 Gene

golgi-associated, gamma adaptin ear containing, ARF binding protein 2

This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]

GJC2 Gene

gap junction protein, gamma 2, 47kDa

This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]

GJC3 Gene

gap junction protein, gamma 3, 30.2kDa

This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010]

GJC1 Gene

gap junction protein, gamma 1, 45kDa

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]

LMBR1L Gene

limb development membrane protein 1-like

ITM2BP1 Gene

integral membrane protein 2B pseudogene 1

FLJ90680 Gene

FLJ90680 protein

LTN1 Gene

listerin E3 ubiquitin protein ligase 1

Like most RING finger proteins, LTN1 functions as an E3 ubiquitin ligase (Chu et al., 2009 [PubMed 19196968]).[supplied by OMIM, Nov 2010]

VPS13D Gene

vacuolar protein sorting 13 homolog D (S. cerevisiae)

This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]

VPS13A Gene

vacuolar protein sorting 13 homolog A (S. cerevisiae)

The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

SH3KBP1 Gene

SH3-domain kinase binding protein 1

This gene encodes an adapter protein that contains three N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

VPS13C Gene

vacuolar protein sorting 13 homolog C (S. cerevisiae)

This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

VPS13B Gene

vacuolar protein sorting 13 homolog B (yeast)

This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

LOC101929185 Gene

putative glycine-rich cell wall structural protein 1

TMEM160 Gene

transmembrane protein 160

TMEM163 Gene

transmembrane protein 163

TMEM165 Gene

transmembrane protein 165

This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

TMEM164 Gene

transmembrane protein 164

TMEM168 Gene

transmembrane protein 168

RPLP2P2 Gene

ribosomal protein, large, P2 pseudogene 2

SNAP91 Gene

synaptosomal-associated protein, 91kDa

LOC101926982 Gene

protein GVQW1-like

LOC101926984 Gene

putative uncharacterized protein FLJ43826

LOC101926986 Gene

glioma tumor suppressor candidate region gene 1 protein-like

LOC105371032 Gene

polyadenylate-binding protein 4 pseudogene

RPL15P3 Gene

ribosomal protein L15 pseudogene 3

RPL15P2 Gene

ribosomal protein L15 pseudogene 2

RPL15P1 Gene

ribosomal protein L15 pseudogene 1

RPL15P7 Gene

ribosomal protein L15 pseudogene 7

RPL15P6 Gene

ribosomal protein L15 pseudogene 6

RPL15P5 Gene

ribosomal protein L15 pseudogene 5

RPL15P4 Gene

ribosomal protein L15 pseudogene 4

RPL15P9 Gene

ribosomal protein L15 pseudogene 9

RPL15P8 Gene

ribosomal protein L15 pseudogene 8

LOC100271907 Gene

myotubularin related protein 7 pseudogene

LINC01215 Gene

long intergenic non-protein coding RNA 1215

LINC01214 Gene

long intergenic non-protein coding RNA 1214

SYCE1 Gene

synaptonemal complex central element protein 1

LINC00847 Gene

long intergenic non-protein coding RNA 847

RALBP1 Gene

ralA binding protein 1

RALBP1 plays a role in receptor-mediated endocytosis and is a downstream effector of the small GTP-binding protein RAL (see RALA; MIM 179550). Small G proteins, such as RAL, have GDP-bound inactive and GTP-bound active forms, which shift from the inactive to the active state through the action of RALGDS (MIM 601619), which in turn is activated by RAS (see HRAS; MIM 190020) (summary by Feig, 2003 [PubMed 12888294]).[supplied by OMIM, Nov 2010]

ZNF831 Gene

zinc finger protein 831

ZNF830 Gene

zinc finger protein 830

ZNF835 Gene

zinc finger protein 835

ZNF837 Gene

zinc finger protein 837

ZNF836 Gene

zinc finger protein 836

ZNF839 Gene

zinc finger protein 839

MRPS24P1 Gene

mitochondrial ribosomal protein S24 pseudogene 1

LINC00849 Gene

long intergenic non-protein coding RNA 849

ZPBP Gene

zona pellucida binding protein

ZPBP is one of several proteins that are thought to participate in secondary binding between acrosome-reacted sperm and the egg-specific extracellular matrix, the zona pellucida (McLeskey et al., 1998 [PubMed 9378618]).[supplied by OMIM, Aug 2008]

ITCH Gene

itchy E3 ubiquitin protein ligase

This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

CHMP4A Gene

charged multivesicular body protein 4A

CHMP4A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

CHMP4B Gene

charged multivesicular body protein 4B

This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009]

CHMP4C Gene

charged multivesicular body protein 4C

CHMP4C belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

COBLL1 Gene

cordon-bleu WH2 repeat protein-like 1

LOC100421595 Gene

thyroid hormone receptor associated protein 3 pseudogene

TMEM255B Gene

transmembrane protein 255B

TMEM255A Gene

transmembrane protein 255A

WBP2P1 Gene

WW domain binding protein 2 pseudogene 1

ZNF304 Gene

zinc finger protein 304

ZNF302 Gene

zinc finger protein 302

This gene encodes a member of the zinc-finger protein family. The encoded protein contains seven C2H2-type zinc fingers and a KRAB domain, but its function has yet to be determined. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2014]

ZNF300 Gene

zinc finger protein 300

The protein encoded by this gene is a C2H2-type zinc finger DNA binding protein and likely transcriptional regulator. The function of this protein is not yet known. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

LOC100419755 Gene

zinc finger protein 426 pseudogene

PPP3CA Gene

protein phosphatase 3, catalytic subunit, alpha isozyme

PPP3CB Gene

protein phosphatase 3, catalytic subunit, beta isozyme

PPP3CC Gene

protein phosphatase 3, catalytic subunit, gamma isozyme

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

RPL12 Gene

ribosomal protein L12

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L11P family of ribosomal proteins. It is located in the cytoplasm. The protein binds directly to the 26S rRNA. This gene is co-transcribed with the U65 snoRNA, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

LOC359819 Gene

mitochondrial ribosomal protein L39 pseudogene

GACAT2 Gene

gastric cancer associated transcript 2 (non-protein coding)

GACAT1 Gene

gastric cancer associated transcript 1 (non-protein coding)

LOC347381 Gene

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

RPL17P37 Gene

ribosomal protein L17 pseudogene 37

LINC01251 Gene

long intergenic non-protein coding RNA 1251

LINC01250 Gene

long intergenic non-protein coding RNA 1250

LINC01257 Gene

long intergenic non-protein coding RNA 1257

TIAL1 Gene

TIA1 cytotoxic granule-associated RNA binding protein-like 1

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

FUBP3 Gene

far upstream element (FUSE) binding protein 3

FUBP1 Gene

far upstream element (FUSE) binding protein 1

The protein encoded by this gene is a single stranded DNA-binding protein that binds to multiple DNA elements, including the far upstream element (FUSE) located upstream of c-myc. Binding to FUSE occurs on the non-coding strand, and is important to the regulation of c-myc in undifferentiated cells. This protein contains three domains, an amphipathic helix N-terminal domain, a DNA-binding central domain, and a C-terminal transactivation domain that contains three tyrosine-rich motifs. The N-terminal domain is thought to repress the activity of the C-terminal domain. This protein is also thought to bind RNA, and contains 3'-5' helicase activity with in vitro activity on both DNA-DNA and RNA-RNA duplexes. Aberrant expression of this gene has been found in malignant tissues, and this gene is important to neural system and lung development. Binding of this protein to viral RNA is thought to play a role in several viral diseases, including hepatitis C and hand, foot and mouth disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

SCHIP1 Gene

schwannomin interacting protein 1

SAP30 Gene

Sin3A-associated protein, 30kDa

Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Jul 2008]

LOC100533903 Gene

ribosomal protein L3 pseudogene

LOC100533902 Gene

ribosomal protein L3 pseudogene

LOC100533900 Gene

ribosomal protein L3 pseudogene

RPL37P9 Gene

ribosomal protein L37 pseudogene 9

RPL37P8 Gene

ribosomal protein L37 pseudogene 8

BRIP1 Gene

BRCA1 interacting protein C-terminal helicase 1

The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]

PATL2 Gene

protein associated with topoisomerase II homolog 2 (yeast)

IL18RAP Gene

interleukin 18 receptor accessory protein

The protein encoded by this gene is an accessory subunit of the heterodimeric receptor for interleukin 18 (IL18), a proinflammatory cytokine involved in inducing cell-mediated immunity. This protein enhances the IL18-binding activity of the IL18 receptor and plays a role in signaling by IL18. Mutations in this gene are associated with Crohn's disease and inflammatory bowel disease, and susceptibility to celiac disease and leprosy. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]

TMEM167AP1 Gene

transmembrane protein 167A pseudogene 1

FKBP14 Gene

FK506 binding protein 14, 22 kDa

The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]

FKBP15 Gene

FK506 binding protein 15, 133kDa

FKBP10 Gene

FK506 binding protein 10, 65 kDa

The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]

FKBP11 Gene

FK506 binding protein 11, 19 kDa

FKBP11 belongs to the FKBP family of peptidyl-prolyl cis/trans isomerases, which catalyze the folding of proline-containing polypeptides. The peptidyl-prolyl isomerase activity of FKBP proteins is inhibited by the immunosuppressant compounds FK506 and rapamycin (Rulten et al., 2006 [PubMed 16596453]).[supplied by OMIM, Mar 2008]

FBXO10 Gene

F-box protein 10

Members of the F-box protein family, such as FBXO10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

FBXO11 Gene

F-box protein 11

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This gene is known to be down-regulated in melanocytes from patients with vitiligo, a skin disorder that results in depigmentation. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]

FBXO16 Gene

F-box protein 16

This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

FBXO17 Gene

F-box protein 17

This gene encodes a member of the F-box protein family which is characterized by the F-box motif. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it contains an F-box domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

FBXO15 Gene

F-box protein 15

Members of the F-box protein family, such as FBXO15, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

KRTAP1-1 Gene

keratin associated protein 1-1

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP1-3 Gene

keratin associated protein 1-3

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

KRTAP1-4 Gene

keratin associated protein 1-4

The main structural proteins of mammalian hair fiber are the hair keratins (see MIM 601077) and the keratin-associated proteins (KAPs), which form a rigid and resistant hair shaft through extensive disulfide bond crosslinking with the abundant cysteines of hair keratins (Shimomura et al., 2002 [PubMed 12228244]).[supplied by OMIM, Jan 2009]

KRTAP1-5 Gene

keratin associated protein 1-5

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

LOC100313942 Gene

transmembrane protein 92 pseudogene

LOC440181 Gene

transmembrane protein 98 pseudogene

GHITM Gene

growth hormone inducible transmembrane protein

RPL7P57 Gene

ribosomal protein L7 pseudogene 57

LOC127011 Gene

ATPase, H+ transporting, lysosomal accessory protein 2 pseudogene

FKBP1B Gene

FK506 binding protein 1B, 12.6 kDa

The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is highly similar to the FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms. [provided by RefSeq, Jul 2008]

FKBP1C Gene

FK506 binding protein 1C

FKBP1A Gene

FK506 binding protein 1A, 12kDa

The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. [provided by RefSeq, Sep 2008]

RPL17P6 Gene

ribosomal protein L17 pseudogene 6

MAP10 Gene

microtubule-associated protein 10

RPL17P9 Gene

ribosomal protein L17 pseudogene 9

LOC100133102 Gene

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

RPL17P8 Gene

ribosomal protein L17 pseudogene 8

MAP1A Gene

microtubule-associated protein 1A

This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]

MAP1B Gene

microtubule-associated protein 1B

This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008]

MAP1S Gene

microtubule-associated protein 1S

CCP110 Gene

centriolar coiled coil protein 110kDa

RPL18A Gene

ribosomal protein L18a

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18AE family of ribosomal proteins that is a component of the 60S subunit. The encoded protein may play a role in viral replication by interacting with the hepatitis C virus internal ribosome entry site (IRES). This gene is co-transcribed with the U68 snoRNA, located within the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012]

FOXCUT Gene

FOXC1 upstream transcript (non-protein coding)

TARDBPP1 Gene

TAR DNA binding protein pseudogene 1

TARDBPP2 Gene

TAR DNA binding protein pseudogene 2

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

ZNF848P Gene

zinc finger protein 848, pseudogene

RNF175 Gene

ring finger protein 175

RNF170 Gene

ring finger protein 170

This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the ER-associated protein degradation pathway. It is recruited to the activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this gene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

GAFA2 Gene

FGF-2 activity-associated protein 2

GAFA3 Gene

FGF-2 activity-associated protein 3

PCNP Gene

PEST proteolytic signal containing nuclear protein

PCAT1 Gene

prostate cancer associated transcript 1 (non-protein coding)

PCAT2 Gene

prostate cancer associated transcript 2 (non-protein coding)

PCAT4 Gene

prostate cancer associated transcript 4 (non-protein coding)

PCAT7 Gene

prostate cancer associated transcript 7 (non-protein coding)

LOC101059914 Gene

protein FAM218A-like

LOC101059915 Gene

uncharacterized protein CXorf49-like

PPT1 Gene

palmitoyl-protein thioesterase 1

The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]

FLJ44674 Gene

FLJ44674 protein

MRPL3P1 Gene

mitochondrial ribosomal protein L3 pseudogene 1

MGC40069 Gene

uncharacterized protein MGC40069

TRNP1 Gene

TMF1-regulated nuclear protein 1

YBX3P1 Gene

Y box binding protein 3 pseudogene 1

PPP1R26 Gene

protein phosphatase 1, regulatory subunit 26

PPP1R27 Gene

protein phosphatase 1, regulatory subunit 27

PPP1R21 Gene

protein phosphatase 1, regulatory subunit 21

ZNF605 Gene

zinc finger protein 605

KCP Gene

kielin/chordin-like protein

LOC606724 Gene

coronin, actin binding protein, 1A pseudogene

LINC01255 Gene

long intergenic non-protein coding RNA 1255

LOC148430 Gene

ribosomal protein S2 pseudogene

LOC729603 Gene

calcineurin-like EF-hand protein 1 pseudogene

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

OPALIN Gene

oligodendrocytic myelin paranodal and inner loop protein

NDEL1 Gene

nudE neurodevelopment protein 1-like 1

This gene encodes a coiled-coil protein that plays a role in multiple processes including cytoskeletal organization, cell signaling and neuron migration, outgrowth and maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Mar 2012]