psui3905/ncbi_genes_summary huggingface dataset:
VN1R87P, Official Symbol VN1R87Pprovided by HGNC Official Full Name vomeronasal 1 receptor 87 pseudogeneprovided by HGNC Primary source HGNC:HGNC:37407 See related Ensembl:ENSG00000268789 AllianceGenome:HGNC:37407 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
VN1R88P, Official Symbol VN1R88Pprovided by HGNC Official Full Name vomeronasal 1 receptor 88 pseudogeneprovided by HGNC Primary source HGNC:HGNC:37408 See related AllianceGenome:HGNC:37408 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
VN1R8P, Official Symbol VN1R8Pprovided by HGNC Official Full Name vomeronasal 1 receptor 8 pseudogeneprovided by HGNC Primary source HGNC:HGNC:8497 See related AllianceGenome:HGNC:8497 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ORLP2
VN1R90P, Official Symbol VN1R90Pprovided by HGNC Official Full Name vomeronasal 1 receptor 90 pseudogeneprovided by HGNC Primary source HGNC:HGNC:37410 See related Ensembl:ENSG00000268794 AllianceGenome:HGNC:37410 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
VN1R91P, Official Symbol VN1R91Pprovided by HGNC Official Full Name vomeronasal 1 receptor 91 pseudogeneprovided by HGNC Primary source HGNC:HGNC:37411 See related AllianceGenome:HGNC:37411 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
VN1R92P, Official Symbol VN1R92Pprovided by HGNC Official Full Name vomeronasal 1 receptor 92 pseudogeneprovided by HGNC Primary source HGNC:HGNC:37412 See related Ensembl:ENSG00000268908 AllianceGenome:HGNC:37412 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
VN1R93P, Official Symbol VN1R93Pprovided by HGNC Official Full Name vomeronasal 1 receptor 93 pseudogeneprovided by HGNC Primary source HGNC:HGNC:37413 See related Ensembl:ENSG00000269320 AllianceGenome:HGNC:37413 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
VN1R96P, Official Symbol VN1R96Pprovided by HGNC Official Full Name vomeronasal 1 receptor 96 pseudogeneprovided by HGNC Primary source HGNC:HGNC:37416 See related Ensembl:ENSG00000230086 AllianceGenome:HGNC:37416 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
VN2R10P, Official Symbol VN2R10Pprovided by HGNC Official Full Name vomeronasal 2 receptor 10, pseudogeneprovided by HGNC Primary source HGNC:HGNC:33216 See related Ensembl:ENSG00000226348 AllianceGenome:HGNC:33216 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
VN2R19P, Official Symbol VN2R19Pprovided by HGNC Official Full Name vomeronasal 2 receptor 19, pseudogeneprovided by HGNC Primary source HGNC:HGNC:33225 See related Ensembl:ENSG00000235974 AllianceGenome:HGNC:33225 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
VN2R9P, Official Symbol VN2R9Pprovided by HGNC Official Full Name vomeronasal 2 receptor 9, pseudogeneprovided by HGNC Primary source HGNC:HGNC:33215 See related Ensembl:ENSG00000236541 AllianceGenome:HGNC:33215 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
VNN1, Official Symbol VNN1provided by HGNC Official Full Name vanin 1provided by HGNC Primary source HGNC:HGNC:12705 See related Ensembl:ENSG00000112299 MIM:603570; AllianceGenome:HGNC:12705 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HDLCQ8; Tiff66 Summary This gene encodes a member of the vanin family of proteins, which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. This protein, like its mouse homolog, is likely a GPI-anchored cell surface molecule. The mouse protein is expressed by the perivascular thymic stromal cells and regulates migration of T-cell progenitors to the thymus. This gene lies in close proximity to, and in the same transcriptional orientation as, two other vanin genes on chromosome 6q23-q24. [provided by RefSeq, Feb 2009] Expression Biased expression in duodenum (RPKM 74.9), liver (RPKM 69.9) and 5 other tissues See more Orthologs mouse all
VNN2, Official Symbol VNN2provided by HGNC Official Full Name vanin 2provided by HGNC Primary source HGNC:HGNC:12706 See related Ensembl:ENSG00000112303 MIM:603571; AllianceGenome:HGNC:12706 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FOAP-4; GPI-80 Summary This gene product is a member of the Vanin family of proteins that share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. The encoded protein is a GPI-anchored cell surface molecule that plays a role in transendothelial migration of neutrophils. This gene lies in close proximity to, and in same transcriptional orientation as two other vanin genes on chromosome 6q23-q24. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] Expression Biased expression in spleen (RPKM 12.9), lymph node (RPKM 11.0) and 11 other tissues See more Orthologs all
VNN3P, Official Symbol VNN3Pprovided by HGNC Official Full Name vanin 3, pseudogeneprovided by HGNC Primary source HGNC:HGNC:16431 See related Ensembl:ENSG00000093134 MIM:606592; AllianceGenome:HGNC:16431 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as VNN3; HSA238982 Summary This gene is the central gene in a cluster of three vanin genes on chromosome 6q23-q24. Extensive alternative splicing has been described; the two most common variants are represented as RefSeqs. [provided by RefSeq, Apr 2014] Expression Biased expression in bone marrow (RPKM 15.1), liver (RPKM 10.5) and 5 other tissues See more Orthologs all
VOPP1, Official Symbol VOPP1provided by HGNC Official Full Name VOPP1 WW domain binding proteinprovided by HGNC Primary source HGNC:HGNC:34518 See related Ensembl:ENSG00000154978 MIM:611915; AllianceGenome:HGNC:34518 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ECOP; GASP; WBP1L2 Summary Located in cytoplasmic vesicle membrane and endosome. Is integral component of organelle membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 19.1), appendix (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
VPREB1, Official Symbol VPREB1provided by HGNC Official Full Name V-set pre-B cell surrogate light chain 1provided by HGNC Primary source HGNC:HGNC:12709 See related Ensembl:ENSG00000169575 IMGT/GENE-DB:VPREB1; MIM:605141; AllianceGenome:HGNC:12709 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IGI; IGVPB; VPREB; CD179a Summary The protein encoded by this gene belongs to the immunoglobulin superfamily and is expressed selectively at the early stages of B cell development, namely, in proB and early preB cells. This gene encodes the iota polypeptide chain that is associated with the Ig-mu chain to form a molecular complex which is expressed on the surface of pre-B cells. The complex is thought to regulate Ig gene rearrangements in the early steps of B-cell differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Orthologs mouse all
VPREB3, Official Symbol VPREB3provided by HGNC Official Full Name V-set pre-B cell surrogate light chain 3provided by HGNC Primary source HGNC:HGNC:12710 See related Ensembl:ENSG00000128218 IMGT/GENE-DB:VPREB3; MIM:605017; AllianceGenome:HGNC:12710 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 8HS20; N27C7-2 Summary The protein encoded by this gene is the human ortholog of the mouse VpreB3 (8HS20) protein, is thought to be involved in B-cell maturation, and may play a role in assembly of the pre-B cell receptor (pre-BCR). While the role of this protein in B-cell development has not yet been elucidated, studies with the chicken ortholog of this protein have found that when overexpressed, this protein localizes to the endoplasmic reticulum. The mouse ortholog of this protein has been shown to associate with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. Expression of this gene has been observed in some lymphomas. [provided by RefSeq, Apr 2015] Expression Biased expression in lymph node (RPKM 35.6), spleen (RPKM 23.3) and 5 other tissues See more Orthologs mouse all
VPS11, Official Symbol VPS11provided by HGNC Official Full Name VPS11 core subunit of CORVET and HOPS complexesprovided by HGNC Primary source HGNC:HGNC:14583 See related Ensembl:ENSG00000160695 MIM:608549; AllianceGenome:HGNC:14583 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as END1; PEP5; HLD12; RNF108; hVPS11; HLD12; DYT32 Summary Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps11 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] Expression Ubiquitous expression in thyroid (RPKM 16.0), bone marrow (RPKM 14.4) and 25 other tissues See more Orthologs mouse all
VPS13A, Official Symbol VPS13Aprovided by HGNC Official Full Name vacuolar protein sorting 13 homolog Aprovided by HGNC Primary source HGNC:HGNC:1908 See related Ensembl:ENSG00000197969 MIM:605978; AllianceGenome:HGNC:1908 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CHAC; BLTP5A; CHOREIN Summary 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] Expression Ubiquitous expression in testis (RPKM 7.5), skin (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
VPS13B, Official Symbol VPS13Bprovided by HGNC Official Full Name vacuolar protein sorting 13 homolog Bprovided by HGNC Primary source HGNC:HGNC:2183 See related Ensembl:ENSG00000132549 MIM:607817; AllianceGenome:HGNC:2183 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CHS1; COH1; BLTP5B Summary 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] Expression Ubiquitous expression in endometrium (RPKM 3.0), ovary (RPKM 2.8) and 25 other tissues See more Orthologs mouse all
VPS13B-DT, Official Symbol VPS13B-DTprovided by HGNC Official Full Name VPS13B divergent transcriptprovided by HGNC Primary source HGNC:HGNC:54375 See related Ensembl:ENSG00000253948 AllianceGenome:HGNC:54375 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OLC8 Expression Broad expression in skin (RPKM 7.9), fat (RPKM 6.6) and 20 other tissues See more
VPS13C, Official Symbol VPS13Cprovided by HGNC Official Full Name vacuolar protein sorting 13 homolog Cprovided by HGNC Primary source HGNC:HGNC:23594 See related Ensembl:ENSG00000129003 MIM:608879; AllianceGenome:HGNC:23594 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BLTP5C; PARK23 Summary Involved in mitochondrion organization and negative regulation of parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization. Located in cytosol and mitochondrial outer membrane. Implicated in Parkinson's disease 23. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 9.0), spleen (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
VPS13D, Official Symbol VPS13Dprovided by HGNC Official Full Name vacuolar protein sorting 13 homolog Dprovided by HGNC Primary source HGNC:HGNC:23595 See related Ensembl:ENSG00000048707 MIM:608877; AllianceGenome:HGNC:23595 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SCA24; SCAR4; SCASI; BLTP5D Summary 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] Expression Ubiquitous expression in skin (RPKM 12.9), thyroid (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
VPS16, Official Symbol VPS16provided by HGNC Official Full Name VPS16 core subunit of CORVET and HOPS complexesprovided by HGNC Primary source HGNC:HGNC:14584 See related Ensembl:ENSG00000215305 MIM:608550; AllianceGenome:HGNC:14584 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DYT30; hVPS16 Summary Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009] Expression Ubiquitous expression in appendix (RPKM 12.2), thyroid (RPKM 11.8) and 25 other tissues See more Orthologs mouse all
VPS18, Official Symbol VPS18provided by HGNC Official Full Name VPS18 core subunit of CORVET and HOPS complexesprovided by HGNC Primary source HGNC:HGNC:15972 See related Ensembl:ENSG00000104142 MIM:608551; AllianceGenome:HGNC:15972 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PEP3 Summary Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps18 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 7.7), kidney (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
VPS25, Official Symbol VPS25provided by HGNC Official Full Name vacuolar protein sorting 25 homologprovided by HGNC Primary source HGNC:HGNC:28122 See related Ensembl:ENSG00000131475 MIM:610907; AllianceGenome:HGNC:28122 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DERP9; EAP20; FAP20 Summary This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in esophagus (RPKM 14.2), colon (RPKM 12.6) and 25 other tissues See more Orthologs mouse all
VPS26A, Official Symbol VPS26Aprovided by HGNC Official Full Name VPS26 retromer complex component Aprovided by HGNC Primary source HGNC:HGNC:12711 See related Ensembl:ENSG00000122958 MIM:605506; AllianceGenome:HGNC:12711 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HB58; PEP8A; VPS26; Hbeta58 Summary This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 20.4), esophagus (RPKM 15.7) and 25 other tissues See more Orthologs mouse all
VPS26AP1, Official Symbol VPS26AP1provided by HGNC Official Full Name VPS26A pseudogene 1provided by HGNC Primary source HGNC:HGNC:44611 See related AllianceGenome:HGNC:44611 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
VPS26B, Official Symbol VPS26Bprovided by HGNC Official Full Name VPS26 retromer complex component Bprovided by HGNC Primary source HGNC:HGNC:28119 See related Ensembl:ENSG00000151502 MIM:610027; AllianceGenome:HGNC:28119 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Pep8b Summary Predicted to be involved in intracellular protein transport and retrograde transport, endosome to Golgi. Predicted to act upstream of or within cellular response to interferon-gamma. Predicted to be located in early endosome and late endosome. Predicted to be part of retromer complex. Predicted to be active in endosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 21.5), skin (RPKM 15.9) and 25 other tissues See more Orthologs mouse all
VPS26BP1, Official Symbol VPS26BP1provided by HGNC Official Full Name VPS26B pseudogene 1provided by HGNC Primary source HGNC:HGNC:44612 See related Ensembl:ENSG00000224895 AllianceGenome:HGNC:44612 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
VPS26C, Official Symbol VPS26Cprovided by HGNC Official Full Name VPS26 endosomal protein sorting factor Cprovided by HGNC Primary source HGNC:HGNC:3044 See related Ensembl:ENSG00000157538 MIM:605298; AllianceGenome:HGNC:3044 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DCRA; DSCR3; DSCRA Summary The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 11.4), duodenum (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
VPS26CP1, Official Symbol VPS26CP1provided by HGNC Official Full Name VPS26C pseudogene 1provided by HGNC Primary source HGNC:HGNC:54684 See related Ensembl:ENSG00000213083 AllianceGenome:HGNC:54684 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
VPS28, Official Symbol VPS28provided by HGNC Official Full Name VPS28 subunit of ESCRT-Iprovided by HGNC Primary source HGNC:HGNC:18178 See related Ensembl:ENSG00000160948 MIM:611952; AllianceGenome:HGNC:18178 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a protein subunit of the ESCRT-I complex (endosomal complexes required for transport), which functions in the transport and sorting of proteins into subcellular vesicles. This complex can also be hijacked to facilitate the budding of enveloped viruses from the cell membrane. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in ovary (RPKM 46.0), duodenum (RPKM 44.3) and 25 other tissues See more Orthologs mouse all
VPS29, Official Symbol VPS29provided by HGNC Official Full Name VPS29 retromer complex componentprovided by HGNC Primary source HGNC:HGNC:14340 See related Ensembl:ENSG00000111237 MIM:606932; AllianceGenome:HGNC:14340 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DC7; DC15; PEP11 Summary This gene belongs to a group of vacuolar protein sorting (VPS) genes that, when functionally impaired, disrupt the efficient delivery of vacuolar hydrolases. The protein encoded by this gene is a component of a large multimeric complex, termed the retromer complex, which is involved in retrograde transport of proteins from endosomes to the trans-Golgi network. This VPS protein may be involved in the formation of the inner shell of the retromer coat for retrograde vesicles leaving the prevacuolar compartment. Alternative splice variants encoding different isoforms and representing non-protein coding transcripts have been found for this gene. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in fat (RPKM 31.1), esophagus (RPKM 28.7) and 25 other tissues See more Orthologs mouse all
VPS33A, Official Symbol VPS33Aprovided by HGNC Official Full Name VPS33A core subunit of CORVET and HOPS complexesprovided by HGNC Primary source HGNC:HGNC:18179 See related Ensembl:ENSG00000139719 MIM:610034; AllianceGenome:HGNC:18179 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MPSPS Summary This gene encodes a tethering protein and a core subunit of the homotypic fusion and protein sorting (HOPS) complex. The HOPS complex and a second endosomal tethering complex called the class C core vacuole/endosome tethering (CORVET) complex, perform diverse functions in endocytosis including membrane tethering, RabGTPase interaction, activation and proofreading of synaptic-soluble N-ethylmaleimide-sensitive factor attachment receptor (SNARE) assembly to drive membrane fusion, and endosome-to-cytoskeleton attachment. The HOPS complex controls endosome maturation as well as endosome traffic to the lysosome. This complex is essential for vacuolar fusion and is required for adaptor protein complex 3-dependent transport from the golgi to the vacuole. The encoded protein belongs to the Sec1/Munc18 (SM) family of SNARE-mediated membrane fusion regulators. Naturally occurring mutations in this gene are associated with a novel mucopolysaccharidosis-like disease. [provided by RefSeq, Apr 2017] Expression Ubiquitous expression in testis (RPKM 14.4), lymph node (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
VPS33B, Official Symbol VPS33Bprovided by HGNC Official Full Name VPS33B late endosome and lysosome associatedprovided by HGNC Primary source HGNC:HGNC:12712 See related Ensembl:ENSG00000184056 MIM:608552; AllianceGenome:HGNC:12712 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KDIDAR; PFIC12 Summary Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Expression Ubiquitous expression in brain (RPKM 5.8), testis (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
VPS33B-DT, Official Symbol VPS33B-DTprovided by HGNC Official Full Name VPS33B divergent transcriptprovided by HGNC Primary source HGNC:HGNC:51413 See related Ensembl:ENSG00000214432 AllianceGenome:HGNC:51413 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
VPS35, Official Symbol VPS35provided by HGNC Official Full Name VPS35 retromer complex componentprovided by HGNC Primary source HGNC:HGNC:13487 See related Ensembl:ENSG00000069329 MIM:601501; AllianceGenome:HGNC:13487 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MEM3; PARK17 Summary This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in small intestine (RPKM 28.7), urinary bladder (RPKM 22.9) and 25 other tissues See more Orthologs mouse all
VPS35L, Official Symbol VPS35Lprovided by HGNC Official Full Name VPS35 endosomal protein sorting factor likeprovided by HGNC Primary source HGNC:HGNC:24641 See related Ensembl:ENSG00000103544 MIM:618981; AllianceGenome:HGNC:24641 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EC97; RTSC3; C16orf62 Summary Involved in Golgi to plasma membrane transport and endocytic recycling. Located in endosome. Implicated in Ritscher-Schinzel syndrome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 13.6), brain (RPKM 13.2) and 25 other tissues See more Orthologs mouse all
VPS35P1, Official Symbol VPS35P1provided by HGNC Official Full Name VPS35 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51805 See related Ensembl:ENSG00000260809 AllianceGenome:HGNC:51805 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
VPS36, Official Symbol VPS36provided by HGNC Official Full Name vacuolar protein sorting 36 homologprovided by HGNC Primary source HGNC:HGNC:20312 See related Ensembl:ENSG00000136100 MIM:610903; AllianceGenome:HGNC:20312 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EAP45; C13orf9; CGI-145 Summary This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is associated with RNA polymerase elongation factor II. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in skin (RPKM 25.0), thyroid (RPKM 15.1) and 25 other tissues See more Orthologs mouse all
VPS37A, Official Symbol VPS37Aprovided by HGNC Official Full Name VPS37A subunit of ESCRT-Iprovided by HGNC Primary source HGNC:HGNC:24928 See related Ensembl:ENSG00000155975 MIM:609927; AllianceGenome:HGNC:24928 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HCRP1; PQBP2; SPG53 Summary This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in testis (RPKM 6.8), placenta (RPKM 5.0) and 25 other tissues See more Orthologs mouse all
VPS37B, Official Symbol VPS37Bprovided by HGNC Official Full Name VPS37B subunit of ESCRT-Iprovided by HGNC Primary source HGNC:HGNC:25754 See related Ensembl:ENSG00000139722 MIM:610037; AllianceGenome:HGNC:25754 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables calcium-dependent protein binding activity. Involved in positive regulation of viral budding via host ESCRT complex. Located in endosome membrane; midbody; and plasma membrane. Part of ESCRT I complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 9.2), colon (RPKM 9.0) and 25 other tissues See more Orthologs mouse all
VPS37C, Official Symbol VPS37Cprovided by HGNC Official Full Name VPS37C subunit of ESCRT-Iprovided by HGNC Primary source HGNC:HGNC:26097 See related Ensembl:ENSG00000167987 MIM:610038; AllianceGenome:HGNC:26097 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary VPS37C is a subunit of ESCRT-I (endosomal sorting complex required for transport I), a complex in the class E vacuolar protein sorting (VPS) pathway required for sorting ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies (Eastman et al., 2005 [PubMed 15509564]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in prostate (RPKM 9.4), placenta (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
VPS37D, Official Symbol VPS37Dprovided by HGNC Official Full Name VPS37D subunit of ESCRT-Iprovided by HGNC Primary source HGNC:HGNC:18287 See related Ensembl:ENSG00000176428 MIM:610039; AllianceGenome:HGNC:18287 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as WBSCR24 Summary Predicted to be involved in protein targeting to membrane; protein targeting to vacuole; and ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway. Located in extracellular exosome. Part of ESCRT I complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 3.2), brain (RPKM 1.6) and 20 other tissues See more Orthologs mouse all
VPS39, Official Symbol VPS39provided by HGNC Official Full Name VPS39 subunit of HOPS complexprovided by HGNC Primary source HGNC:HGNC:20593 See related Ensembl:ENSG00000166887 MIM:612188; AllianceGenome:HGNC:20593 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TLP; VAM6; hVam6p Summary This gene encodes a protein that may promote clustering and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming growth factor-beta response by coupling the transforming growth factor-beta receptor complex to the Smad pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in brain (RPKM 16.3), thyroid (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
VPS41, Official Symbol VPS41provided by HGNC Official Full Name VPS41 subunit of HOPS complexprovided by HGNC Primary source HGNC:HGNC:12713 See related Ensembl:ENSG00000006715 MIM:605485; AllianceGenome:HGNC:12713 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HVPS41; HVSP41; SCAR29; hVps41p Summary Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 18.7), gall bladder (RPKM 13.0) and 25 other tissues See more Orthologs mouse all
VPS45, Official Symbol VPS45provided by HGNC Official Full Name vacuolar protein sorting 45 homologprovided by HGNC Primary source HGNC:HGNC:14579 See related Ensembl:ENSG00000136631 MIM:610035; AllianceGenome:HGNC:14579 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as H1; SCN5; VSP45; VPS45A; VPS45B; VPS54A; VSP45A; H1VPS45 Summary Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in brain (RPKM 10.4), adrenal (RPKM 10.2) and 25 other tissues See more Orthologs mouse all
VPS4A, Official Symbol VPS4Aprovided by HGNC Official Full Name vacuolar protein sorting 4 homolog Aprovided by HGNC Primary source HGNC:HGNC:13488 See related Ensembl:ENSG00000132612 MIM:609982; AllianceGenome:HGNC:13488 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SKD1; SKD2; VPS4; SKD1A; CIMDAG; VPS4-1 Summary The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 45.1), fat (RPKM 36.4) and 25 other tissues See more Orthologs mouse all
VPS4B, Official Symbol VPS4Bprovided by HGNC Official Full Name vacuolar protein sorting 4 homolog Bprovided by HGNC Primary source HGNC:HGNC:10895 See related Ensembl:ENSG00000119541 MIM:609983; AllianceGenome:HGNC:10895 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MIG1; SKD1; SKD1B; VPS4-2 Summary The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 18; the gene for the other resides on chromosome 16. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in esophagus (RPKM 35.7), colon (RPKM 23.8) and 25 other tissues See more Orthologs mouse all
VPS50, Official Symbol VPS50provided by HGNC Official Full Name VPS50 subunit of EARP/GARPII complexprovided by HGNC Primary source HGNC:HGNC:25956 See related Ensembl:ENSG00000004766 MIM:616465; AllianceGenome:HGNC:25956 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NEDMSC; VPS54L; CCDC132 Summary Enables SNARE binding activity. Acts upstream of or within endocytic recycling. Located in recycling endosome. Part of EARP complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 5.6), thyroid (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
VPS51, Official Symbol VPS51provided by HGNC Official Full Name VPS51 subunit of GARP complexprovided by HGNC Primary source HGNC:HGNC:1172 See related Ensembl:ENSG00000149823 MIM:615738; AllianceGenome:HGNC:1172 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FFR; ANG2; ANG3; PCH13; C11orf2; C11orf3 Summary This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in ovary (RPKM 41.5), colon (RPKM 30.6) and 25 other tissues See more Orthologs mouse all
VPS52, Official Symbol VPS52provided by HGNC Official Full Name VPS52 subunit of GARP complexprovided by HGNC Primary source HGNC:HGNC:10518 See related Ensembl:ENSG00000223501 MIM:603443; AllianceGenome:HGNC:10518 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARE1; SAC2; SACM2L; dJ1033B10.5 Summary This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is involved in vesicle trafficking from from both early and late endosomes, back to the trans-Golgi network. This gene is located on chromosome 6 in a head-to-head orientation with the gene encoding ribosomal protein S18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Expression Ubiquitous expression in thyroid (RPKM 15.7), testis (RPKM 14.8) and 25 other tissues See more Orthologs mouse all