psui3905/ncbi_genes_summary huggingface dataset:
ABCF3, Official Symbol ABCF3provided by HGNC Official Full Name ATP binding cassette subfamily F member 3provided by HGNC Primary source HGNC:HGNC:72 See related Ensembl:ENSG00000161204 MIM:618967; AllianceGenome:HGNC:72 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 EST201864 Summary This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding cassette proteins transport various molecules across extra- and intracellular membranes. The protein encoded by this gene displays antiviral effect against flaviviruses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017] Expression Ubiquitous expression in adrenal (RPKM 33.9), testis (RPKM 16.2) and 25 other tissues See more Orthologs mouse all
ABCG1, Official Symbol ABCG1provided by HGNC Official Full Name ATP binding cassette subfamily G member 1provided by HGNC Primary source HGNC:HGNC:73 See related Ensembl:ENSG00000160179 MIM:603076; AllianceGenome:HGNC:73 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 ABC8; WHITE1 Summary The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 7.0), adrenal (RPKM 5.6) and 24 other tissues See more Orthologs mouse all
ABCG2, Official Symbol ABCG2provided by HGNC Official Full Name ATP binding cassette subfamily G member 2 (Junior blood group)provided by HGNC Primary source HGNC:HGNC:74 See related Ensembl:ENSG00000118777 MIM:603756; AllianceGenome:HGNC:74 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 MRX; MXR; ABCP; BCRP; BMDP; MXR1; ABC15; BCRP1; CD338; GOUT1; MXR-1; CDw338; CDw388; UAQTL1; EST157481 Summary The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Expression Biased expression in small intestine (RPKM 33.2), duodenum (RPKM 16.6) and 12 other tissues See more Orthologs mouse all
ABCG4, Official Symbol ABCG4provided by HGNC Official Full Name ATP binding cassette subfamily G member 4provided by HGNC Primary source HGNC:HGNC:13884 See related Ensembl:ENSG00000172350 MIM:607784; AllianceGenome:HGNC:13884 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 WHITE2 Summary The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. [provided by RefSeq, Jan 2017] Expression Biased expression in testis (RPKM 2.4), brain (RPKM 2.0) and 8 other tissues See more Orthologs mouse all
ABCG5, Official Symbol ABCG5provided by HGNC Official Full Name ATP binding cassette subfamily G member 5provided by HGNC Primary source HGNC:HGNC:13886 See related Ensembl:ENSG00000138075 MIM:605459; AllianceGenome:HGNC:13886 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 STSL; STSL2 Summary The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008] Expression Biased expression in duodenum (RPKM 25.9), small intestine (RPKM 24.3) and 1 other tissue See more Orthologs mouse all
ABCG8, Official Symbol ABCG8provided by HGNC Official Full Name ATP binding cassette subfamily G member 8provided by HGNC Primary source HGNC:HGNC:13887 See related Ensembl:ENSG00000143921 MIM:605460; AllianceGenome:HGNC:13887 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 GBD4; STSL; STSL1 Summary The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008] Expression Biased expression in small intestine (RPKM 17.4), duodenum (RPKM 17.0) and 1 other tissue See more Orthologs mouse all
ABHD1, Official Symbol ABHD1provided by HGNC Official Full Name abhydrolase domain containing 1provided by HGNC Primary source HGNC:HGNC:17553 See related Ensembl:ENSG00000143994 MIM:612195; AllianceGenome:HGNC:17553 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 LABH1 Summary This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 24.6) and fat (RPKM 1.9) See more Orthologs all
ABHD10, Official Symbol ABHD10provided by HGNC Official Full Name abhydrolase domain containing 10, depalmitoylaseprovided by HGNC Primary source HGNC:HGNC:25656 See related Ensembl:ENSG00000144827 MIM:618756; AllianceGenome:HGNC:25656 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 mitochondrially-localized enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013] Expression Ubiquitous expression in kidney (RPKM 20.6), thyroid (RPKM 19.7) and 25 other tissues See more Orthologs mouse all
ABHD11, Official Symbol ABHD11provided by HGNC Official Full Name abhydrolase domain containing 11provided by HGNC Primary source HGNC:HGNC:16407 See related Ensembl:ENSG00000106077 AllianceGenome:HGNC:16407 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 PP1226; WBSCR21 Summary This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in colon (RPKM 10.9), thyroid (RPKM 9.6) and 25 other tissues See more Orthologs mouse all
ABHD11-AS1, Official Symbol ABHD11-AS1provided by HGNC Official Full Name ABHD11 antisense RNA 1 (tail to tail)provided by HGNC Primary source HGNC:HGNC:18289 See related MIM:612545; AllianceGenome:HGNC:18289 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 WBSCR26; LINC00035; NCRNA00035 Expression Biased expression in duodenum (RPKM 11.3), small intestine (RPKM 9.7) and 5 other tissues See more Orthologs mouse all
ABHD12, Official Symbol ABHD12provided by HGNC Official Full Name abhydrolase domain containing 12, lysophospholipaseprovided by HGNC Primary source HGNC:HGNC:15868 See related Ensembl:ENSG00000100997 MIM:613599; AllianceGenome:HGNC:15868 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 PHARC; ABHD12A; BEM46L2; hABHD12; C20orf22; dJ965G21.2 Summary This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011] Expression Ubiquitous expression in thyroid (RPKM 21.6), brain (RPKM 16.2) and 25 other tissues See more Orthologs mouse all
ABHD12B, Official Symbol ABHD12Bprovided by HGNC Official Full Name abhydrolase domain containing 12Bprovided by HGNC Primary source HGNC:HGNC:19837 See related Ensembl:ENSG00000131969 AllianceGenome:HGNC:19837 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 BEM46L3; C14orf29; c14_5314 Summary Predicted to enable acylglycerol lipase activity; lysophospholipase activity; and palmitoyl-(protein) hydrolase activity. Predicted to be involved in monoacylglycerol catabolic process and phosphatidylserine catabolic process. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 6.3), brain (RPKM 0.8) and 2 other tissues See more Orthologs mouse all
ABHD13, Official Symbol ABHD13provided by HGNC Official Full Name abhydrolase domain containing 13provided by HGNC Primary source HGNC:HGNC:20293 See related Ensembl:ENSG00000139826 AllianceGenome:HGNC:20293 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 BEM46L1; C13orf6; bA153I24.2 Summary Predicted to enable palmitoyl-(protein) hydrolase activity. Predicted to be involved in protein depalmitoylation. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 5.4), thyroid (RPKM 4.5) and 25 other tissues See more Orthologs mouse all
ABHD14A, Official Symbol ABHD14Aprovided by HGNC Official Full Name abhydrolase domain containing 14Aprovided by HGNC Primary source HGNC:HGNC:24538 See related Ensembl:ENSG00000248487 MIM:618771; AllianceGenome:HGNC:24538 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 DORZ1 Summary Predicted to enable hydrolase activity. Predicted to be integral component of membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 15.4), thyroid (RPKM 13.6) and 25 other tissues See more Orthologs mouse all
ABHD14A-ACY1, Official Symbol ABHD14A-ACY1provided by HGNC Official Full Name ABHD14A-ACY1 readthroughprovided by HGNC Primary source HGNC:HGNC:38856 See related Ensembl:ENSG00000114786 AllianceGenome:HGNC:38856 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 This locus represents naturally occurring read-through transcription between the neighboring abhydrolase domain containing 14A (ABHD14A) and aminoacylase 1 (ACY1) genes on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the downstream gene product but its N-terminal region is distinct due to the use of an alternate start codon relative to the upstream gene. [provided by RefSeq, Oct 2015] Expression Biased expression in kidney (RPKM 192.8), duodenum (RPKM 69.0) and 7 other tissues See more Orthologs all
ABHD14B, Official Symbol ABHD14Bprovided by HGNC Official Full Name abhydrolase domain containing 14Bprovided by HGNC Primary source HGNC:HGNC:28235 See related Ensembl:ENSG00000114779 AllianceGenome:HGNC:28235 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 CIB; HEL-S-299 Summary Enables hydrolase activity. Involved in positive regulation of transcription by RNA polymerase II. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 33.8), kidney (RPKM 32.8) and 25 other tissues See more Orthologs mouse all
ABHD15, Official Symbol ABHD15provided by HGNC Official Full Name abhydrolase domain containing 15provided by HGNC Primary source HGNC:HGNC:26971 See related Ensembl:ENSG00000168792 MIM:619894; AllianceGenome:HGNC:26971 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 Predicted to enable acylglycerol lipase activity and short-chain carboxylesterase activity. Predicted to be involved in cellular lipid metabolic process. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 15.3), liver (RPKM 7.9) and 25 other tissues See more Orthologs mouse all
ABHD16A, Official Symbol ABHD16Aprovided by HGNC Official Full Name abhydrolase domain containing 16A, phospholipaseprovided by HGNC Primary source HGNC:HGNC:13921 See related Ensembl:ENSG00000204427 MIM:142620; AllianceGenome:HGNC:13921 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 BAT5; NG26; PP199; SPG86; hBAT5; D6S82E Summary A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010] Expression Ubiquitous expression in testis (RPKM 19.9), prostate (RPKM 13.9) and 25 other tissues See more Orthologs mouse all
ABHD16B, Official Symbol ABHD16Bprovided by HGNC Official Full Name abhydrolase domain containing 16Bprovided by HGNC Primary source HGNC:HGNC:16128 See related Ensembl:ENSG00000183260 MIM:620190; AllianceGenome:HGNC:16128 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 C20orf135; dJ591C20.1 Summary Predicted to enable acylglycerol lipase activity; palmitoyl-(protein) hydrolase activity; and phospholipase activity. Predicted to be involved in monoacylglycerol catabolic process and phosphatidylserine catabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
ABHD17A, Official Symbol ABHD17Aprovided by HGNC Official Full Name abhydrolase domain containing 17A, depalmitoylaseprovided by HGNC Primary source HGNC:HGNC:28756 See related Ensembl:ENSG00000129968 MIM:617942; AllianceGenome:HGNC:28756 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 C19orf27; FAM108A1 Summary Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation and protein localization to membrane. Located in endosome membrane; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 12.7), bone marrow (RPKM 10.4) and 25 other tissues See more Orthologs mouse all
ABHD17AP9, Official Symbol ABHD17AP9provided by HGNC Official Full Name ABHD17A pseudogene 9provided by HGNC Primary source HGNC:HGNC:38510 See related AllianceGenome:HGNC:38510 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 FAM108A10P
ABHD17B, Official Symbol ABHD17Bprovided by HGNC Official Full Name abhydrolase domain containing 17B, depalmitoylaseprovided by HGNC Primary source HGNC:HGNC:24278 See related Ensembl:ENSG00000107362 MIM:617943; AllianceGenome:HGNC:24278 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 CGI-67; C9orf77; FAM108B1 Summary Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 5.5), duodenum (RPKM 3.6) and 25 other tissues See more Orthologs mouse all
ABHD17C, Official Symbol ABHD17Cprovided by HGNC Official Full Name abhydrolase domain containing 17C, depalmitoylaseprovided by HGNC Primary source HGNC:HGNC:26925 See related Ensembl:ENSG00000136379 MIM:617944; AllianceGenome:HGNC:26925 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 FAM108C1 Summary Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation. Predicted to be located in postsynaptic density. Predicted to be active in endosome membrane; glutamatergic synapse; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in colon (RPKM 37.1), stomach (RPKM 19.2) and 20 other tissues See more Orthologs mouse all
ABHD18, Official Symbol ABHD18provided by HGNC Official Full Name abhydrolase domain containing 18provided by HGNC Primary source HGNC:HGNC:26111 See related Ensembl:ENSG00000164074 AllianceGenome:HGNC:26111 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 C4orf29 Summary Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in heart (RPKM 3.9), duodenum (RPKM 3.2) and 25 other tissues See more Orthologs mouse all
ABHD2, Official Symbol ABHD2provided by HGNC Official Full Name abhydrolase domain containing 2, acylglycerol lipaseprovided by HGNC Primary source HGNC:HGNC:18717 See related Ensembl:ENSG00000140526 MIM:612196; AllianceGenome:HGNC:18717 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 HS1-2; LABH2; PHPS1-2 Summary This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a wide range of enzymes. The encoded protein is an acylglycerol lipase that catalyzes the hydrolysis of endocannabinoid arachidonoylglycerol from the cell membrane. This leads to activation of the sperm calcium channel CatSper, which results in sperm activation. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jan 2017] Expression Ubiquitous expression in liver (RPKM 19.2), stomach (RPKM 14.4) and 25 other tissues See more Orthologs mouse all
ABHD3, Official Symbol ABHD3provided by HGNC Official Full Name abhydrolase domain containing 3, phospholipaseprovided by HGNC Primary source HGNC:HGNC:18718 See related Ensembl:ENSG00000158201 MIM:612197; AllianceGenome:HGNC:18718 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 LABH3 Summary This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in colon (RPKM 25.3), small intestine (RPKM 19.0) and 23 other tissues See more Orthologs mouse all
ABHD4, Official Symbol ABHD4provided by HGNC Official Full Name abhydrolase domain containing 4, N-acyl phospholipase Bprovided by HGNC Primary source HGNC:HGNC:20154 See related Ensembl:ENSG00000100439 MIM:619728; AllianceGenome:HGNC:20154 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 ABH4 Summary Predicted to enable lysophosphatidic acid acyltransferase activity and lysophospholipase activity. Predicted to be involved in N-acylphosphatidylethanolamine metabolic process; lipid homeostasis; and phosphatidic acid biosynthetic process. Predicted to act upstream of or within N-acylethanolamine metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in lipid droplet and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 27.9), gall bladder (RPKM 15.6) and 25 other tissues See more Orthologs mouse all
ABHD5, Official Symbol ABHD5provided by HGNC Official Full Name abhydrolase domain containing 5, lysophosphatidic acid acyltransferaseprovided by HGNC Primary source HGNC:HGNC:21396 See related Ensembl:ENSG00000011198 MIM:604780; AllianceGenome:HGNC:21396 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 CGI58; IECN2; NCIE2 Summary The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 12.2), bone marrow (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
ABHD6, Official Symbol ABHD6provided by HGNC Official Full Name abhydrolase domain containing 6, acylglycerol lipaseprovided by HGNC Primary source HGNC:HGNC:21398 See related Ensembl:ENSG00000163686 MIM:616966; AllianceGenome:HGNC:21398 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 acylglycerol lipase activity. Involved in acylglycerol catabolic process. Predicted to be located in late endosome membrane and lysosomal membrane. Predicted to be integral component of membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in GABA-ergic synapse; glutamatergic synapse; and mitochondrion. Predicted to be integral component of postsynaptic membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in small intestine (RPKM 23.4), spleen (RPKM 18.6) and 22 other tissues See more Orthologs mouse all
ABHD8, Official Symbol ABHD8provided by HGNC Official Full Name abhydrolase domain containing 8provided by HGNC Primary source HGNC:HGNC:23759 See related Ensembl:ENSG00000127220 AllianceGenome:HGNC:23759 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 This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 11.8), brain (RPKM 9.9) and 25 other tissues See more Orthologs mouse all
ABI1, Official Symbol ABI1provided by HGNC Official Full Name abl interactor 1provided by HGNC Primary source HGNC:HGNC:11320 See related Ensembl:ENSG00000136754 MIM:603050; AllianceGenome:HGNC:11320 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 E3B1; ABI-1; ABLBP4; NAP1BP; SSH3BP; SSH3BP1 Summary This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in bone marrow (RPKM 23.2), esophagus (RPKM 19.6) and 25 other tissues See more Orthologs mouse all
ABI2, Official Symbol ABI2provided by HGNC Official Full Name abl interactor 2provided by HGNC Primary source HGNC:HGNC:24011 See related Ensembl:ENSG00000138443 MIM:606442; AllianceGenome:HGNC:24011 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 AIP1; ABI-2; ABI2B; AIP-1; AblBP3; argBP1; SSH3BP2; argBPIA; argBPIB Summary Enables several functions, including SH3 domain binding activity; identical protein binding activity; and ubiquitin protein ligase binding activity. Contributes to small GTPase binding activity. Involved in Rac protein signal transduction; positive regulation of cellular component organization; and zonula adherens assembly. Acts upstream of or within peptidyl-tyrosine phosphorylation. Located in several cellular components, including filopodium tip; lamellipodium; and nucleoplasm. Part of SCAR complex. Is active in adherens junction. Colocalizes with actin filament. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 35.9), thyroid (RPKM 13.9) and 21 other tissues See more Orthologs mouse all
ABI3, Official Symbol ABI3provided by HGNC Official Full Name ABI family member 3provided by HGNC Primary source HGNC:HGNC:29859 See related Ensembl:ENSG00000108798 MIM:606363; AllianceGenome:HGNC:29859 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 NESH; SSH3BP3 Summary This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Broad expression in spleen (RPKM 23.3), lymph node (RPKM 10.1) and 21 other tissues See more Orthologs mouse all
ABI3BP, Official Symbol ABI3BPprovided by HGNC Official Full Name ABI family member 3 binding proteinprovided by HGNC Primary source HGNC:HGNC:17265 See related Ensembl:ENSG00000154175 MIM:606279; AllianceGenome:HGNC:17265 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 TARSH; NESHBP Summary Predicted to enable actin filament binding activity and glycosaminoglycan binding activity. Predicted to be involved in regulation of actin cytoskeleton reorganization; regulation of dendritic spine morphogenesis; and regulation of postsynaptic density assembly. Predicted to act upstream of or within extracellular matrix organization and positive regulation of cell-substrate adhesion. Located in extracellular space. Colocalizes with collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in gall bladder (RPKM 33.8), lung (RPKM 26.2) and 21 other tissues See more Orthologs mouse all
ABITRAM, Official Symbol ABITRAMprovided by HGNC Official Full Name actin binding transcription modulatorprovided by HGNC Primary source HGNC:HGNC:1364 See related Ensembl:ENSG00000119328 MIM:620392; AllianceGenome:HGNC:1364 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 CG-8; C9orf6; FAM206A; Simiate Summary Predicted to enable actin filament binding activity and actin monomer binding activity. Predicted to be involved in dendrite morphogenesis; regulation of actin filament polymerization; and regulation of filopodium assembly. Predicted to be located in growth cone. Predicted to be active in several cellular components, including dendrite; filopodium tip; and lamellipodium. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 9.4), thyroid (RPKM 9.0) and 25 other tissues See more Orthologs mouse all
ABL1, Official Symbol ABL1provided by HGNC Official Full Name ABL proto-oncogene 1, non-receptor tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:76 See related Ensembl:ENSG00000097007 MIM:189980; AllianceGenome:HGNC:76 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 ABL; JTK7; p150; c-ABL; v-abl; CHDSKM; c-ABL1; BCR-ABL; bcr/abl Summary This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014] Expression Ubiquitous expression in endometrium (RPKM 24.7), gall bladder (RPKM 20.6) and 25 other tissues See more Orthologs mouse all
ABL2, Official Symbol ABL2provided by HGNC Official Full Name ABL proto-oncogene 2, non-receptor tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:77 See related Ensembl:ENSG00000143322 MIM:164690; AllianceGenome:HGNC:77 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 ARG; ABLL Summary This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009] Expression Ubiquitous expression in gall bladder (RPKM 5.8), appendix (RPKM 2.3) and 25 other tissues See more Orthologs mouse all
ABLIM1, Official Symbol ABLIM1provided by HGNC Official Full Name actin binding LIM protein 1provided by HGNC Primary source HGNC:HGNC:78 See related Ensembl:ENSG00000099204 MIM:602330; AllianceGenome:HGNC:78 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 ABLIM; LIMAB1; LIMATIN; abLIM-1 Summary This gene encodes a LIM zinc-binding domain-containing protein that binds to actin filaments and mediates interactions between actin and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2017] Expression Ubiquitous expression in ovary (RPKM 50.7), heart (RPKM 50.1) and 23 other tissues See more Orthologs mouse all
ABLIM2, Official Symbol ABLIM2provided by HGNC Official Full Name actin binding LIM protein family member 2provided by HGNC Primary source HGNC:HGNC:19195 See related Ensembl:ENSG00000163995 MIM:612544; AllianceGenome:HGNC:19195 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 Predicted to enable actin filament binding activity. Predicted to be involved in lamellipodium assembly. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Located in actin cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 7.8), brain (RPKM 4.6) and 16 other tissues See more Orthologs mouse all
ABLIM3, Official Symbol ABLIM3provided by HGNC Official Full Name actin binding LIM protein family member 3provided by HGNC Primary source HGNC:HGNC:29132 See related Ensembl:ENSG00000173210 MIM:611305; AllianceGenome:HGNC:29132 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 HMFN1661 Summary This gene encodes a member of the actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein interacts with actin filaments and may be a component of adherens junctions in several cell types. A variant of this gene may be associated with pain sensitivity in male human patients. [provided by RefSeq, Sep 2016] Expression Broad expression in fat (RPKM 33.5), heart (RPKM 19.5) and 14 other tissues See more Orthologs mouse all
ABO, Official Symbol ABOprovided by HGNC Official Full Name ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferaseprovided by HGNC Primary source HGNC:HGNC:79 See related Ensembl:ENSG00000175164 MIM:110300; AllianceGenome:HGNC:79 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 GTB; NAGAT; A3GALNT; A3GALT1 Summary This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022] Annotation information Annotation category: suggests misassembly Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Broad expression in colon (RPKM 14.5), small intestine (RPKM 11.5) and 15 other tissues See more Orthologs mouse all
ABR, Official Symbol ABRprovided by HGNC Official Full Name ABR activator of RhoGEF and GTPaseprovided by HGNC Primary source HGNC:HGNC:81 See related Ensembl:ENSG00000159842 MIM:600365; AllianceGenome:HGNC:81 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 MDB Summary This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in brain (RPKM 31.0), heart (RPKM 11.9) and 23 other tissues See more Orthologs mouse all
ABRA, Official Symbol ABRAprovided by HGNC Official Full Name actin binding Rho activating proteinprovided by HGNC Primary source HGNC:HGNC:30655 See related Ensembl:ENSG00000174429 MIM:609747; AllianceGenome:HGNC:30655 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 STARS Summary Predicted to enable actin binding activity. Predicted to be involved in positive regulation of DNA-binding transcription factor activity; positive regulation of Rho protein signal transduction; and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of transcription, DNA-templated and protein import into nucleus. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in heart (RPKM 6.8), esophagus (RPKM 1.8) and 2 other tissues See more Orthologs mouse all
ABRACL, Official Symbol ABRACLprovided by HGNC Official Full Name ABRA C-terminal likeprovided by HGNC Primary source HGNC:HGNC:21230 See related Ensembl:ENSG00000146386 AllianceGenome:HGNC:21230 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 Costars; HSPC280; PRO2013; C6orf115 Summary Predicted to be involved in regulation of actin filament-based process. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in colon (RPKM 38.5), lymph node (RPKM 36.1) and 23 other tissues See more Orthologs mouse all
ABRAXAS1, Official Symbol ABRAXAS1provided by HGNC Official Full Name abraxas 1, BRCA1 A complex subunitprovided by HGNC Primary source HGNC:HGNC:25829 See related Ensembl:ENSG00000163322 MIM:611143; AllianceGenome:HGNC:25829 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 ABRA1; CCDC98; FAM175A Summary This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in ovary (RPKM 9.6), testis (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
ABRAXAS2, Official Symbol ABRAXAS2provided by HGNC Official Full Name abraxas 2, BRISC complex subunitprovided by HGNC Primary source HGNC:HGNC:28975 See related Ensembl:ENSG00000165660 MIM:611144; AllianceGenome:HGNC:28975 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 ABRO1; FAM175B; KIAA0157 Summary Enables microtubule binding activity and polyubiquitin modification-dependent protein binding activity. Involved in several processes, including mitotic spindle assembly; protein K63-linked deubiquitination; and response to ischemia. Located in cytoplasm. Part of BRISC complex. Colocalizes with microtubule minus-end; midbody; and spindle pole centrosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 8.5), lymph node (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
ABT1, Official Symbol ABT1provided by HGNC Official Full Name activator of basal transcription 1provided by HGNC Primary source HGNC:HGNC:17369 See related Ensembl:ENSG00000146109 MIM:618750; AllianceGenome:HGNC:17369 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 Esf2; hABT1 Summary Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 4.4), lymph node (RPKM 3.9) and 25 other tissues See more Orthologs mouse all