psui3905/ncbi_genes_summary huggingface dataset:
USP9YP2, Official Symbol USP9YP2provided by HGNC Official Full Name USP9Y pseudogene 2provided by HGNC Primary source HGNC:HGNC:31742 See related Ensembl:ENSG00000249501 AllianceGenome:HGNC:31742 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP20, Official Symbol USP9YP20provided by HGNC Official Full Name USP9Y pseudogene 20provided by HGNC Primary source HGNC:HGNC:38767 See related Ensembl:ENSG00000230854 AllianceGenome:HGNC:38767 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP21, Official Symbol USP9YP21provided by HGNC Official Full Name USP9Y pseudogene 21provided by HGNC Primary source HGNC:HGNC:38757 See related Ensembl:ENSG00000227635 AllianceGenome:HGNC:38757 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP23, Official Symbol USP9YP23provided by HGNC Official Full Name USP9Y pseudogene 23provided by HGNC Primary source HGNC:HGNC:38759 See related Ensembl:ENSG00000223555 AllianceGenome:HGNC:38759 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP24, Official Symbol USP9YP24provided by HGNC Official Full Name USP9Y pseudogene 24provided by HGNC Primary source HGNC:HGNC:38760 See related Ensembl:ENSG00000230814 AllianceGenome:HGNC:38760 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP25, Official Symbol USP9YP25provided by HGNC Official Full Name USP9Y pseudogene 25provided by HGNC Primary source HGNC:HGNC:38761 See related Ensembl:ENSG00000224866 AllianceGenome:HGNC:38761 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP26, Official Symbol USP9YP26provided by HGNC Official Full Name USP9Y pseudogene 26provided by HGNC Primary source HGNC:HGNC:38762 See related Ensembl:ENSG00000234744 AllianceGenome:HGNC:38762 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP27, Official Symbol USP9YP27provided by HGNC Official Full Name USP9Y pseudogene 27provided by HGNC Primary source HGNC:HGNC:38763 See related Ensembl:ENSG00000235521 AllianceGenome:HGNC:38763 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP28, Official Symbol USP9YP28provided by HGNC Official Full Name USP9Y pseudogene 28provided by HGNC Primary source HGNC:HGNC:38764 See related Ensembl:ENSG00000224151 AllianceGenome:HGNC:38764 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP29, Official Symbol USP9YP29provided by HGNC Official Full Name USP9Y pseudogene 29provided by HGNC Primary source HGNC:HGNC:38765 See related Ensembl:ENSG00000232424 AllianceGenome:HGNC:38765 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP3, Official Symbol USP9YP3provided by HGNC Official Full Name USP9Y pseudogene 3provided by HGNC Primary source HGNC:HGNC:37739 See related Ensembl:ENSG00000237023 AllianceGenome:HGNC:37739 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP31, Official Symbol USP9YP31provided by HGNC Official Full Name USP9Y pseudogene 31provided by HGNC Primary source HGNC:HGNC:38775 See related Ensembl:ENSG00000229250 AllianceGenome:HGNC:38775 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP32, Official Symbol USP9YP32provided by HGNC Official Full Name USP9Y pseudogene 32provided by HGNC Primary source HGNC:HGNC:38776 See related Ensembl:ENSG00000237616 AllianceGenome:HGNC:38776 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP33, Official Symbol USP9YP33provided by HGNC Official Full Name USP9Y pseudogene 33provided by HGNC Primary source HGNC:HGNC:38777 See related Ensembl:ENSG00000232064 AllianceGenome:HGNC:38777 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP34, Official Symbol USP9YP34provided by HGNC Official Full Name USP9Y pseudogene 34provided by HGNC Primary source HGNC:HGNC:38778 See related Ensembl:ENSG00000233378 AllianceGenome:HGNC:38778 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP35, Official Symbol USP9YP35provided by HGNC Official Full Name USP9Y pseudogene 35provided by HGNC Primary source HGNC:HGNC:38779 See related Ensembl:ENSG00000237467 AllianceGenome:HGNC:38779 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP36, Official Symbol USP9YP36provided by HGNC Official Full Name USP9Y pseudogene 36provided by HGNC Primary source HGNC:HGNC:38780 See related Ensembl:ENSG00000229709 AllianceGenome:HGNC:38780 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP4, Official Symbol USP9YP4provided by HGNC Official Full Name USP9Y pseudogene 4provided by HGNC Primary source HGNC:HGNC:37740 See related AllianceGenome:HGNC:37740 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP5, Official Symbol USP9YP5provided by HGNC Official Full Name USP9Y pseudogene 5provided by HGNC Primary source HGNC:HGNC:38418 See related Ensembl:ENSG00000249634 AllianceGenome:HGNC:38418 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USP9YP6, Official Symbol USP9YP6provided by HGNC Official Full Name USP9Y pseudogene 6provided by HGNC Primary source HGNC:HGNC:38078 See related AllianceGenome:HGNC:38078 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 CDY24P
USP9YP9, Official Symbol USP9YP9provided by HGNC Official Full Name USP9Y pseudogene 9provided by HGNC Primary source HGNC:HGNC:38435 See related AllianceGenome:HGNC:38435 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
USPL1, Official Symbol USPL1provided by HGNC Official Full Name ubiquitin specific peptidase like 1provided by HGNC Primary source HGNC:HGNC:20294 See related Ensembl:ENSG00000132952 MIM:617470; AllianceGenome:HGNC:20294 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 C13orf22; D13S106E; bA121O19.1 Summary Enables SUMO binding activity and SUMO-specific isopeptidase activity. Involved in several processes, including Cajal body organization; protein desumoylation; and snRNA transcription. Located in Cajal body. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 10.5), bone marrow (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
UST, Official Symbol USTprovided by HGNC Official Full Name uronyl 2-sulfotransferaseprovided by HGNC Primary source HGNC:HGNC:17223 See related Ensembl:ENSG00000111962 MIM:610752; AllianceGenome:HGNC:17223 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 2OST Summary Uronyl 2-sulfotransferase transfers sulfate to the 2-position of uronyl residues, such as iduronyl residues in dermatan sulfate and glucuronyl residues in chondroitin sulfate (Kobayashi et al., 1999 [PubMed 10187838]).[supplied by OMIM, Mar 2008] Expression Broad expression in thyroid (RPKM 10.7), adrenal (RPKM 4.5) and 21 other tissues See more Orthologs mouse all
UTF1, Official Symbol UTF1provided by HGNC Official Full Name undifferentiated embryonic cell transcription factor 1provided by HGNC Primary source HGNC:HGNC:12634 See related Ensembl:ENSG00000171794 MIM:604130; AllianceGenome:HGNC:12634 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 The protein encoded by this gene is a leucine zipper-containing transcriptional coactivator that may link the upstream activator ATF2 with the basal transcription complex. The encoded protein is closely associated with chromatin and is required for the proper differentiation of embryonic carcinoma and embryonic stem cells. Found nearly exclusively in pluripotent cells, this protein can also serve as a transcriptional repressor. [provided by RefSeq, Nov 2015] Expression Low expression observed in reference dataset See more Orthologs mouse all
UTP11, Official Symbol UTP11provided by HGNC Official Full Name UTP11 small subunit processome componentprovided by HGNC Primary source HGNC:HGNC:24329 See related Ensembl:ENSG00000183520 MIM:609440; AllianceGenome:HGNC:24329 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 CGI94; CGI-94; UTP11L Summary Enables RNA binding activity. Involved in nervous system development and positive regulation of apoptotic process. Located in cytoplasm; extracellular space; and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 11.3), esophagus (RPKM 10.1) and 25 other tissues See more Orthologs mouse all
UTP14A, Official Symbol UTP14Aprovided by HGNC Official Full Name UTP14A small subunit processome componentprovided by HGNC Primary source HGNC:HGNC:10665 See related Ensembl:ENSG00000156697 MIM:300508; AllianceGenome:HGNC:10665 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 Utp14; NYCO16; SDCCAG16; dJ537K23.3 Summary This gene encodes a member of the uridine triphosphate 14 family. As an essential component of a large ribonucleoprotein complex bound to the U3 small nucleolar RNA, the encoded protein is involved in ribosome biogenesis and 18S rRNA synthesis. An autosomal retrotransposed copy of this X-linked gene exists on chromosome 13. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009] Expression Ubiquitous expression in lymph node (RPKM 5.9), appendix (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
UTP14C, Official Symbol UTP14Cprovided by HGNC Official Full Name UTP14C small subunit processome componentprovided by HGNC Primary source HGNC:HGNC:20321 See related Ensembl:ENSG00000253797 MIM:608969; AllianceGenome:HGNC:20321 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 UTP14B; KIAA0266; 2700066J21Rik Summary Predicted to be involved in several processes, including meiotic cell cycle; rRNA processing; and spermatogenesis. Located in cytosol and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 12.7), kidney (RPKM 9.1) and 25 other tissues See more Orthologs all
UTP15, Official Symbol UTP15provided by HGNC Official Full Name UTP15 small subunit processome componentprovided by HGNC Primary source HGNC:HGNC:25758 See related Ensembl:ENSG00000164338 MIM:616194; AllianceGenome:HGNC:25758 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 NET21 Summary Enables RNA binding activity. Involved in positive regulation of rRNA processing and positive regulation of transcription by RNA polymerase I. Located in endoplasmic reticulum and fibrillar center. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 3.2), thyroid (RPKM 2.7) and 25 other tissues See more Orthologs mouse all
UTP18, Official Symbol UTP18provided by HGNC Official Full Name UTP18 small subunit processome componentprovided by HGNC Primary source HGNC:HGNC:24274 See related Ensembl:ENSG00000011260 MIM:612816; AllianceGenome:HGNC:24274 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 WDR50; CGI-48 Summary Enables RNA binding activity. Predicted to be involved in rRNA processing. Located in nuclear membrane; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 20.7), lymph node (RPKM 10.4) and 25 other tissues See more Orthologs mouse all
UTP20, Official Symbol UTP20provided by HGNC Official Full Name UTP20 small subunit processome componentprovided by HGNC Primary source HGNC:HGNC:17897 See related Ensembl:ENSG00000120800 MIM:612822; AllianceGenome:HGNC:17897 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 DRIM; 1A6/DRIM Summary UTP20 is a component of the U3 small nucleolar RNA (snoRNA) (SNORD3A; MIM 180710) protein complex (U3 snoRNP) and is involved in 18S rRNA processing (Wang et al., 2007 [PubMed 17498821]).[supplied by OMIM, Jun 2009] Expression Ubiquitous expression in testis (RPKM 4.3), ovary (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
UTP23, Official Symbol UTP23provided by HGNC Official Full Name UTP23 small subunit processome componentprovided by HGNC Primary source HGNC:HGNC:28224 See related Ensembl:ENSG00000147679 AllianceGenome:HGNC:28224 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 C8orf53 Summary Enables mRNA 3'-UTR binding activity and mRNA 5'-UTR binding activity. Predicted to be involved in rRNA processing. Predicted to act upstream of or within endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to be part of small-subunit processome. Predicted to be active in nucleolus. Implicated in colorectal adenocarcinoma. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 6.0), ovary (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
UTP25, Official Symbol UTP25provided by HGNC Official Full Name UTP25 small subunit processome componentprovided by HGNC Primary source HGNC:HGNC:28440 See related Ensembl:ENSG00000117597 MIM:619663; AllianceGenome:HGNC:28440 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 DEF; DIEXF; C1orf107; DJ434O14.5 Summary Enables RNA binding activity. Involved in several processes, including protein catabolic process; protein destabilization; and protein localization to nucleolus. Located in nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 3.8), thyroid (RPKM 2.8) and 25 other tissues See more Orthologs mouse all
UTP3, Official Symbol UTP3provided by HGNC Official Full Name UTP3 small subunit processome componentprovided by HGNC Primary source HGNC:HGNC:24477 See related Ensembl:ENSG00000132467 MIM:611614; AllianceGenome:HGNC:24477 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 CRL1; CRLZ1; SAS10 Summary Enables RNA binding activity. Predicted to be involved in brain development and maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Located in nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
UTP4, Official Symbol UTP4provided by HGNC Official Full Name UTP4 small subunit processome componentprovided by HGNC Primary source HGNC:HGNC:1983 See related Ensembl:ENSG00000141076 MIM:607456; AllianceGenome:HGNC:1983 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 NAIC; CIRH1A; CIRHIN; TEX292 Summary This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in kidney (RPKM 22.9), testis (RPKM 21.3) and 25 other tissues See more Orthologs mouse all
UTP6, Official Symbol UTP6provided by HGNC Official Full Name UTP6 small subunit processome componentprovided by HGNC Primary source HGNC:HGNC:18279 See related Ensembl:ENSG00000108651 AllianceGenome:HGNC:18279 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 HCA66; C17orf40 Summary Predicted to enable snoRNA binding activity. Predicted to be involved in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 15.1), testis (RPKM 14.9) and 25 other tissues See more Orthologs mouse all
UTRN, Official Symbol UTRNprovided by HGNC Official Full Name utrophinprovided by HGNC Primary source HGNC:HGNC:12635 See related Ensembl:ENSG00000152818 MIM:128240; AllianceGenome:HGNC:12635 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 DRP; DMDL; DRP1 Summary This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 15.3), fat (RPKM 15.0) and 25 other tissues See more Orthologs mouse all
UTS2, Official Symbol UTS2provided by HGNC Official Full Name urotensin 2provided by HGNC Primary source HGNC:HGNC:12636 See related Ensembl:ENSG00000049247 MIM:604097; AllianceGenome:HGNC:12636 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 UII; U-II; UCN2; PRO1068 Summary This gene encodes a mature peptide that is an active cyclic heptapeptide absolutely conserved from lamprey to human. The active peptide acts as a vasoconstrictor and is expressed only in brain tissue. Despite the gene family name similarity, this gene is not homologous to urocortin, a member of the sauvagine/corticotropin-releasing factor/urotensin I family. Most of the proprotein is cleaved to make the mature peptide. Transcript variants encoding different preproprotein isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
UTS2B, Official Symbol UTS2Bprovided by HGNC Official Full Name urotensin 2Bprovided by HGNC Primary source HGNC:HGNC:30894 See related Ensembl:ENSG00000188958 MIM:618134; AllianceGenome:HGNC:30894 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 U2B; URP; UIIB; U-IIB; UTS2D Summary Predicted to enable G protein-coupled receptor binding activity. Predicted to be involved in regulation of blood pressure. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
UTS2R, Official Symbol UTS2Rprovided by HGNC Official Full Name urotensin 2 receptorprovided by HGNC Primary source HGNC:HGNC:4468 See related Ensembl:ENSG00000181408 MIM:600896; AllianceGenome:HGNC:4468 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 UTR; UTR2; GPR14; UR-2-R Summary Predicted to enable urotensin II receptor activity. Predicted to be involved in neuropeptide signaling pathway. Predicted to be located in plasma membrane. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
UTY, Official Symbol UTYprovided by HGNC Official Full Name ubiquitously transcribed tetratricopeptide repeat containing, Y-linkedprovided by HGNC Primary source HGNC:HGNC:12638 See related Ensembl:ENSG00000183878 MIM:400009; AllianceGenome:HGNC:12638 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 UTY1; KDM6C; KDM6AL Summary 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] Expression Broad expression in prostate (RPKM 1.9), small intestine (RPKM 1.4) and 20 other tissues See more Orthologs all
UVRAG, Official Symbol UVRAGprovided by HGNC Official Full Name UV radiation resistance associatedprovided by HGNC Primary source HGNC:HGNC:12640 See related Ensembl:ENSG00000198382 MIM:602493; AllianceGenome:HGNC:12640 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 p63; DHTX; VPS38 Summary This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have been associated with colon cancer. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 5.6), lymph node (RPKM 3.6) and 24 other tissues See more Orthologs mouse all
UVRAG-DT, Official Symbol UVRAG-DTprovided by HGNC Official Full Name UVRAG divergent transcriptprovided by HGNC Primary source HGNC:HGNC:53952 See related Ensembl:ENSG00000255507 AllianceGenome:HGNC:53952 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 Biased expression in testis (RPKM 2.9), fat (RPKM 1.7) and 2 other tissues See more
UVSSA, Official Symbol UVSSAprovided by HGNC Official Full Name UV stimulated scaffold protein Aprovided by HGNC Primary source HGNC:HGNC:29304 See related Ensembl:ENSG00000163945 MIM:614632; AllianceGenome:HGNC:29304 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 UVSS3; KIAA1530 Summary The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in testis (RPKM 2.2), spleen (RPKM 1.5) and 25 other tissues See more Orthologs mouse all
UXS1, Official Symbol UXS1provided by HGNC Official Full Name UDP-glucuronate decarboxylase 1provided by HGNC Primary source HGNC:HGNC:17729 See related Ensembl:ENSG00000115652 MIM:609749; AllianceGenome:HGNC:17729 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 UGD; hUXS; hUXS1; SDR6E1 Summary This gene encodes an enzyme found in the perinuclear Golgi which catalyzes the synthesis of UDP-xylose used in glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains are covalently attached to proteoglycans which participate in signaling pathways during development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014] Expression Ubiquitous expression in kidney (RPKM 16.4), placenta (RPKM 15.1) and 25 other tissues See more Orthologs mouse all
UXT, Official Symbol UXTprovided by HGNC Official Full Name ubiquitously expressed prefoldin like chaperoneprovided by HGNC Primary source HGNC:HGNC:12641 See related Ensembl:ENSG00000126756 MIM:300234; AllianceGenome:HGNC:12641 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 SKP2; STAP1; ART-27 Summary The protein encoded by this gene functions as a cofactor that modulates androgen receptor-dependent transcription, and also plays a critical role in tumor necrosis factor-induced apoptosis. Expression of this gene may play a role in tumorigenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in bone marrow (RPKM 37.8), ovary (RPKM 37.2) and 25 other tissues See more Orthologs mouse all
UXT-AS1, Official Symbol UXT-AS1provided by HGNC Official Full Name UXT antisense RNA 1provided by HGNC Primary source HGNC:HGNC:49239 See related Ensembl:ENSG00000267064 AllianceGenome:HGNC:49239 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 Ubiquitous expression in ovary (RPKM 12.4), bone marrow (RPKM 11.5) and 25 other tissues See more
VAC14, Official Symbol VAC14provided by HGNC Official Full Name VAC14 component of PIKFYVE complexprovided by HGNC Primary source HGNC:HGNC:25507 See related Ensembl:ENSG00000103043 MIM:604632; AllianceGenome:HGNC:25507 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 TRX; TAX1BP2; ArPIKfyve Summary This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017] Expression Ubiquitous expression in lymph node (RPKM 2.8), thyroid (RPKM 2.5) and 25 other tissues See more Orthologs mouse all
VAC14-AS1, Official Symbol VAC14-AS1provided by HGNC Official Full Name VAC14 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:48605 See related Ensembl:ENSG00000214353 AllianceGenome:HGNC:48605 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
VAMP1, Official Symbol VAMP1provided by HGNC Official Full Name vesicle associated membrane protein 1provided by HGNC Primary source HGNC:HGNC:12642 See related Ensembl:ENSG00000139190 MIM:185880; AllianceGenome:HGNC:12642 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 SAX1; SYB1; CMS25; SPAX1; VAMP-1 Summary Synapotobrevins, syntaxins, and the synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Mutations in this gene are associated with autosomal dominant spastic ataxia 1. Multiple alternative splice variants have been described, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2014] Expression Broad expression in bone marrow (RPKM 21.7), lymph node (RPKM 20.9) and 23 other tissues See more Orthologs mouse all
VAMP2, Official Symbol VAMP2provided by HGNC Official Full Name vesicle associated membrane protein 2provided by HGNC Primary source HGNC:HGNC:12643 See related Ensembl:ENSG00000220205 MIM:185881; AllianceGenome:HGNC:12643 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 SYB2; VAMP-2; NEDHAHM Summary The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 159.3), ovary (RPKM 45.0) and 23 other tissues See more Orthologs mouse all
VAMP3, Official Symbol VAMP3provided by HGNC Official Full Name vesicle associated membrane protein 3provided by HGNC Primary source HGNC:HGNC:12644 See related Ensembl:ENSG00000049245 MIM:603657; AllianceGenome:HGNC:12644 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 CEB Summary Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this gene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 43.9), lung (RPKM 35.7) and 25 other tissues See more Orthologs mouse all
VAMP4, Official Symbol VAMP4provided by HGNC Official Full Name vesicle associated membrane protein 4provided by HGNC Primary source HGNC:HGNC:12645 See related Ensembl:ENSG00000117533 MIM:606909; AllianceGenome:HGNC:12645 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 VAMP-4; VAMP24 Summary Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. This protein may play a role in trans-Golgi network-to-endosome transport. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 9.9), testis (RPKM 7.1) and 25 other tissues See more Orthologs mouse all
VAMP5, Official Symbol VAMP5provided by HGNC Official Full Name vesicle associated membrane protein 5provided by HGNC Primary source HGNC:HGNC:12646 See related Ensembl:ENSG00000168899 MIM:607029; AllianceGenome:HGNC:12646 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 Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of vesicles and cell membranes. The VAMP5 gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family and the SNARE superfamily. This VAMP family member may participate in vesicle trafficking events that are associated with myogenesis. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lung (RPKM 45.4), fat (RPKM 40.5) and 24 other tissues See more Orthologs mouse all
VAMP7, Official Symbol VAMP7provided by HGNC Official Full Name vesicle associated membrane protein 7provided by HGNC Primary source HGNC:HGNC:11486 See related Ensembl:ENSG00000124333 Ensembl:ENSG00000292366 MIM:300053; AllianceGenome:HGNC:11486 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 SYBL1; TIVAMP; VAMP-7; TI-VAMP Summary This gene encodes a transmembrane protein that is a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) family. The encoded protein localizes to late endosomes and lysosomes and is involved in the fusion of transport vesicles to their target membranes. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] Expression Ubiquitous expression in placenta (RPKM 18.0), kidney (RPKM 17.3) and 25 other tissues See more Orthologs mouse all
VAMP8, Official Symbol VAMP8provided by HGNC Official Full Name vesicle associated membrane protein 8provided by HGNC Primary source HGNC:HGNC:12647 See related Ensembl:ENSG00000118640 MIM:603177; AllianceGenome:HGNC:12647 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 EDB; VAMP-8 Summary This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010] Expression Ubiquitous expression in colon (RPKM 79.3), placenta (RPKM 77.9) and 24 other tissues See more Orthologs mouse all
VAMP9P, Official Symbol VAMP9Pprovided by HGNC Official Full Name vesicle associated membrane protein 9, pseudogeneprovided by HGNC Primary source HGNC:HGNC:53817 See related Ensembl:ENSG00000284516 AllianceGenome:HGNC:53817 Gene type pseudo RefSeq status MODEL 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
VANGL1, Official Symbol VANGL1provided by HGNC Official Full Name VANGL planar cell polarity protein 1provided by HGNC Primary source HGNC:HGNC:15512 See related Ensembl:ENSG00000173218 MIM:610132; AllianceGenome:HGNC:15512 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 LPP2; STB2; STBM2; KITENIN Summary This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] Expression Ubiquitous expression in esophagus (RPKM 4.2), thyroid (RPKM 3.8) and 25 other tissues See more Orthologs mouse all
VANGL2, Official Symbol VANGL2provided by HGNC Official Full Name VANGL planar cell polarity protein 2provided by HGNC Primary source HGNC:HGNC:15511 See related Ensembl:ENSG00000162738 MIM:600533; AllianceGenome:HGNC:15511 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 LPP1; LTAP; STB1; STBM; STBM1 Summary The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011] Expression Broad expression in skin (RPKM 17.0), brain (RPKM 6.7) and 20 other tissues See more Orthologs mouse all
VAPA, Official Symbol VAPAprovided by HGNC Official Full Name VAMP associated protein Aprovided by HGNC Primary source HGNC:HGNC:12648 See related Ensembl:ENSG00000101558 MIM:605703; AllianceGenome:HGNC:12648 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 VAP-A; VAP33; VAMP-A; VAP-33; hVAP-33 Summary 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] Expression Ubiquitous expression in adrenal (RPKM 26.8), brain (RPKM 22.1) and 25 other tissues See more Orthologs mouse all
VAPB, Official Symbol VAPBprovided by HGNC Official Full Name VAMP associated protein B and Cprovided by HGNC Primary source HGNC:HGNC:12649 See related Ensembl:ENSG00000124164 MIM:605704; AllianceGenome:HGNC:12649 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 ALS8; VAP-B; VAMP-B Summary 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] Expression Ubiquitous expression in thyroid (RPKM 14.9), brain (RPKM 14.3) and 25 other tissues See more Orthologs mouse all
VARS1, Official Symbol VARS1provided by HGNC Official Full Name valyl-tRNA synthetase 1provided by HGNC Primary source HGNC:HGNC:12651 See related Ensembl:ENSG00000204394 MIM:192150; AllianceGenome:HGNC:12651 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 G7A; VARS; VARS2; NDMSCA Summary Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 30.0), appendix (RPKM 11.3) and 25 other tissues See more Orthologs mouse all
VARS2, Official Symbol VARS2provided by HGNC Official Full Name valyl-tRNA synthetase 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:21642 See related Ensembl:ENSG00000137411 MIM:612802; AllianceGenome:HGNC:21642 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 VALRS; VARSL; VARS2L; COXPD20 Summary This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014] Expression Ubiquitous expression in brain (RPKM 7.4), esophagus (RPKM 6.1) and 25 other tissues See more Orthologs mouse all