psui3905/ncbi_genes_summary huggingface dataset:
A1BG, Official Symbol A1BGprovided by HGNC Official Full Name alpha-1-B glycoproteinprovided by HGNC Primary source HGNC:HGNC:5 See related Ensembl:ENSG00000121410 MIM:138670; AllianceGenome:HGNC:5 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 A1B; ABG; GAB; HYST2477 Summary The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008] Orthologs mouse all
A1BG-AS1, Official Symbol A1BG-AS1provided by HGNC Official Full Name A1BG antisense RNA 1provided by HGNC Primary source HGNC:HGNC:37133 See related Ensembl:ENSG00000268895 AllianceGenome:HGNC:37133 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as A1BGAS; A1BG-AS; NCRNA00181 Expression Biased expression in liver (RPKM 106.5) and spleen (RPKM 1.9) See more
A1CF, Official Symbol A1CFprovided by HGNC Official Full Name APOBEC1 complementation factorprovided by HGNC Primary source HGNC:HGNC:24086 See related Ensembl:ENSG00000148584 MIM:618199; AllianceGenome:HGNC:24086 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 ACF; ASP; ACF64; ACF65; APOBEC1CF Summary Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] Expression Biased expression in liver (RPKM 31.2), small intestine (RPKM 8.6) and 4 other tissues See more Orthologs mouse all
A2M, Official Symbol A2Mprovided by HGNC Official Full Name alpha-2-macroglobulinprovided by HGNC Primary source HGNC:HGNC:7 See related Ensembl:ENSG00000175899 MIM:103950; AllianceGenome:HGNC:7 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 A2MD; CPAMD5; FWP007; S863-7 Summary The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimer's disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016] Expression Broad expression in lung (RPKM 732.0), urinary bladder (RPKM 374.7) and 21 other tissues See more Orthologs all
A2M-AS1, Official Symbol A2M-AS1provided by HGNC Official Full Name A2M antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27057 See related Ensembl:ENSG00000245105 AllianceGenome:HGNC:27057 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 Broad expression in lung (RPKM 20.8), liver (RPKM 9.6) and 21 other tissues See more
A2ML1, Official Symbol A2ML1provided by HGNC Official Full Name alpha-2-macroglobulin like 1provided by HGNC Primary source HGNC:HGNC:23336 See related Ensembl:ENSG00000166535 MIM:610627; AllianceGenome:HGNC:23336 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 OMS; p170; CPAMD9 Summary This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015] Expression Restricted expression toward esophagus (RPKM 190.0) See more Orthologs all
A2ML1-AS1, Official Symbol A2ML1-AS1provided by HGNC Official Full Name A2ML1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41022 See related AllianceGenome:HGNC:41022 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
A2MP1, Official Symbol A2MP1provided by HGNC Official Full Name alpha-2-macroglobulin pseudogene 1provided by HGNC Primary source HGNC:HGNC:8 See related Ensembl:ENSG00000291190 AllianceGenome:HGNC:8 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as A2MP Expression Biased expression in adrenal (RPKM 1.1), spleen (RPKM 0.5) and 11 other tissues See more
A3GALT2, Official Symbol A3GALT2provided by HGNC Official Full Name alpha 1,3-galactosyltransferase 2provided by HGNC Primary source HGNC:HGNC:30005 See related Ensembl:ENSG00000184389 MIM:619850; AllianceGenome:HGNC:30005 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 IGB3S; IGBS3S; A3GALT2P Summary Predicted to enable N-acetyllactosaminide 3-alpha-galactosyltransferase activity and alpha-1,3-galactosyltransferase activity. Predicted to be involved in lipid glycosylation. Predicted to act upstream of or within glycosphingolipid biosynthetic process. Predicted to be located in Golgi cisterna membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus and vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
A4GALT, Official Symbol A4GALTprovided by HGNC Official Full Name alpha 1,4-galactosyltransferase (P blood group)provided by HGNC Primary source HGNC:HGNC:18149 See related Ensembl:ENSG00000128274 MIM:607922; AllianceGenome:HGNC:18149 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 P1; PK; Gb3S; P(k); P1PK; A14GALT; A4GALT1 Summary The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in kidney (RPKM 6.5), fat (RPKM 5.5) and 22 other tissues See more Orthologs mouse all
A4GNT, Official Symbol A4GNTprovided by HGNC Official Full Name alpha-1,4-N-acetylglucosaminyltransferaseprovided by HGNC Primary source HGNC:HGNC:17968 See related Ensembl:ENSG00000118017 MIM:616709; AllianceGenome:HGNC:17968 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 alpha4GnT Summary This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq, Jul 2008] Expression Biased expression in stomach (RPKM 9.5), duodenum (RPKM 0.9) and 1 other tissue See more Orthologs mouse all
AA06, Gene symbol AA06 Gene description uncharacterized LOC100506677 See related Ensembl:ENSG00000265544 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AA02; AA04; AA05 Expression Low expression observed in reference dataset See more
AAAS, Official Symbol AAASprovided by HGNC Official Full Name aladin WD repeat nucleoporinprovided by HGNC Primary source HGNC:HGNC:13666 See related Ensembl:ENSG00000094914 MIM:605378; AllianceGenome:HGNC:13666 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 AAA; AAASb; GL003; ALADIN; ADRACALA; ADRACALIN Summary The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in testis (RPKM 20.2), adrenal (RPKM 16.0) and 25 other tissues See more Orthologs mouse all
AACS, Official Symbol AACSprovided by HGNC Official Full Name acetoacetyl-CoA synthetaseprovided by HGNC Primary source HGNC:HGNC:21298 See related Ensembl:ENSG00000081760 MIM:614364; AllianceGenome:HGNC:21298 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 ACSF1; SUR-5 Summary Predicted to enable acetoacetate-CoA ligase activity. Predicted to be involved in positive regulation of insulin secretion. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 23.3), skin (RPKM 16.5) and 24 other tissues See more Orthologs mouse all
AACSP1, Official Symbol AACSP1provided by HGNC Official Full Name acetoacetyl-CoA synthetase pseudogene 1provided by HGNC Primary source HGNC:HGNC:18226 See related Ensembl:ENSG00000291019 AllianceGenome:HGNC:18226 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AACSL Expression Restricted expression toward testis (RPKM 1.9) See more
AADAC, Official Symbol AADACprovided by HGNC Official Full Name arylacetamide deacetylaseprovided by HGNC Primary source HGNC:HGNC:17 See related Ensembl:ENSG00000114771 MIM:600338; AllianceGenome:HGNC:17 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 DAC; CES5A1 Summary Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 174.6), small intestine (RPKM 100.2) and 4 other tissues See more Orthologs mouse all
AADACL2, Official Symbol AADACL2provided by HGNC Official Full Name arylacetamide deacetylase like 2provided by HGNC Primary source HGNC:HGNC:24427 See related Ensembl:ENSG00000197953 AllianceGenome:HGNC:24427 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 hydrolase activity. Predicted to be located in extracellular region. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward skin (RPKM 21.5) See more Orthologs all
AADACL2-AS1, Official Symbol AADACL2-AS1provided by HGNC Official Full Name AADACL2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50301 See related AllianceGenome:HGNC:50301 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 1.2), placenta (RPKM 0.2) and 2 other tissues See more
AADACL3, Official Symbol AADACL3provided by HGNC Official Full Name arylacetamide deacetylase like 3provided by HGNC Primary source HGNC:HGNC:32037 See related Ensembl:ENSG00000188984 AllianceGenome:HGNC:32037 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 hydrolase activity. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in placenta (RPKM 1.1), skin (RPKM 0.7) and 1 other tissue See more Orthologs mouse all
AADACL4, Official Symbol AADACL4provided by HGNC Official Full Name arylacetamide deacetylase like 4provided by HGNC Primary source HGNC:HGNC:32038 See related Ensembl:ENSG00000204518 AllianceGenome:HGNC:32038 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 hydrolase activity. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
AADACP1, Official Symbol AADACP1provided by HGNC Official Full Name arylacetamide deacetylase pseudogene 1provided by HGNC Primary source HGNC:HGNC:50305 See related Ensembl:ENSG00000291076 AllianceGenome:HGNC:50305 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in duodenum (RPKM 5.5), small intestine (RPKM 4.2) and 7 other tissues See more
AADAT, Official Symbol AADATprovided by HGNC Official Full Name aminoadipate aminotransferaseprovided by HGNC Primary source HGNC:HGNC:17929 See related Ensembl:ENSG00000109576 MIM:611754; AllianceGenome:HGNC:17929 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 KAT2; KATII; KYAT2 Summary This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013] Expression Broad expression in liver (RPKM 11.4), prostate (RPKM 6.3) and 19 other tissues See more Orthologs mouse all
AAGAB, Official Symbol AAGABprovided by HGNC Official Full Name alpha and gamma adaptin binding proteinprovided by HGNC Primary source HGNC:HGNC:25662 See related Ensembl:ENSG00000103591 MIM:614888; AllianceGenome:HGNC:25662 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 p34; KPPP1; PPKP1; PPKP1A Summary The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in thyroid (RPKM 12.8), colon (RPKM 11.4) and 25 other tissues See more Orthologs mouse all
AAK1, Official Symbol AAK1provided by HGNC Official Full Name AP2 associated kinase 1provided by HGNC Primary source HGNC:HGNC:19679 See related Ensembl:ENSG00000115977 MIM:616405; AllianceGenome:HGNC:19679 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 member of the SNF1 subfamily of serine/threonine protein kinases. Adaptor-related protein complex 2 (AP-2 complexes) functions during receptor-mediated endocytosis to trigger clathrin assembly, interact with membrane-bound receptors, and recruit encodytic accessory factors. The encoded protein interacts with and phosphorylates a subunit of the AP-2 complex, which promotes binding of AP-2 to sorting signals found in membrane-bound receptors and subsequent receptor endocytosis. Its kinase activity is stimulated by clathrin. This kinase has been shown to play an important role in regulating the clathrin-mediated endocytosis of the rabies virus, facilitating infection. Inhibitors of this kinase are being studied as candidate therapeutics to disrupt the entry of viruses, including SARS-CoV-2, into target cells. It is also involved in positive regulation of Notch pathway signaling in mammals. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Aug 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection. Expression Ubiquitous expression in brain (RPKM 7.8), thyroid (RPKM 4.9) and 24 other tissues See more Orthologs mouse all
AAMDC, Official Symbol AAMDCprovided by HGNC Official Full Name adipogenesis associated Mth938 domain containingprovided by HGNC Primary source HGNC:HGNC:30205 See related Ensembl:ENSG00000087884 MIM:620474; AllianceGenome:HGNC:30205 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 CK067; PTD015; C11orf67 Summary Predicted to be involved in positive regulation of fat cell differentiation. Predicted to act upstream of or within negative regulation of apoptotic process and positive regulation of transcription by RNA polymerase II. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 14.7), fat (RPKM 11.2) and 24 other tissues See more Orthologs mouse all
AAMP, Official Symbol AAMPprovided by HGNC Official Full Name angio associated migratory cell proteinprovided by HGNC Primary source HGNC:HGNC:18 See related Ensembl:ENSG00000127837 MIM:603488; AllianceGenome:HGNC:18 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 gene is a member of the immunoglobulin superfamily. The encoded protein is associated with angiogenesis, with potential roles in endothelial tube formation and the migration of endothelial cells. It may also regulate smooth muscle cell migration via the RhoA pathway. The encoded protein can bind to heparin and may mediate heparin-sensitive cell adhesion. [provided by RefSeq, Oct 2014] Expression Ubiquitous expression in ovary (RPKM 40.5), thyroid (RPKM 38.1) and 25 other tissues See more Orthologs mouse all
AANAT, Official Symbol AANATprovided by HGNC Official Full Name aralkylamine N-acetyltransferaseprovided by HGNC Primary source HGNC:HGNC:19 See related Ensembl:ENSG00000129673 MIM:600950; AllianceGenome:HGNC:19 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 DSPS; SNAT Summary The protein encoded by this gene belongs to the acetyltransferase superfamily. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. Melatonin is essential for the function of the circadian clock that influences activity and sleep. This enzyme is regulated by cAMP-dependent phosphorylation that promotes its interaction with 14-3-3 proteins and thus protects the enzyme against proteasomal degradation. This gene may contribute to numerous genetic diseases such as delayed sleep phase syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
AAR2, Official Symbol AAR2provided by HGNC Official Full Name AAR2 splicing factorprovided by HGNC Primary source HGNC:HGNC:15886 See related Ensembl:ENSG00000131043 MIM:617365; AllianceGenome:HGNC:15886 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 CGI-23; C20orf4 Summary This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in testis (RPKM 10.2), thyroid (RPKM 9.5) and 25 other tissues See more Orthologs mouse all
AARD, Official Symbol AARDprovided by HGNC Official Full Name alanine and arginine rich domain containing proteinprovided by HGNC Primary source HGNC:HGNC:33842 See related Ensembl:ENSG00000205002 AllianceGenome:HGNC:33842 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 C8orf85 Summary Predicted to be involved in lung development. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 16.1), lung (RPKM 1.2) and 1 other tissue See more Orthologs mouse all
AARS1, Official Symbol AARS1provided by HGNC Official Full Name alanyl-tRNA synthetase 1provided by HGNC Primary source HGNC:HGNC:20 See related Ensembl:ENSG00000090861 MIM:601065; AllianceGenome:HGNC:20 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 AARS; TTD8; CMT2N; DEE29; HDLS2; EIEE29 Summary The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 59.4), thyroid (RPKM 56.4) and 25 other tissues See more Orthologs mouse all
AARS1P1, Official Symbol AARS1P1provided by HGNC Official Full Name alanyl-tRNA synthetase 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:49894 See related Ensembl:ENSG00000249038 AllianceGenome:HGNC:49894 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 AARSP1
AARS2, Official Symbol AARS2provided by HGNC Official Full Name alanyl-tRNA synthetase 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:21022 See related Ensembl:ENSG00000124608 MIM:612035; AllianceGenome:HGNC:21022 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 AARSL; LKENP; COXPD8; MTALARS; MT-ALARS Summary The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in small intestine (RPKM 2.7), ovary (RPKM 2.7) and 25 other tissues See more Orthologs mouse all
AARSD1, Official Symbol AARSD1provided by HGNC Official Full Name alanyl-tRNA synthetase domain containing 1provided by HGNC Primary source HGNC:HGNC:28417 See related Ensembl:ENSG00000266967 MIM:613212; AllianceGenome:HGNC:28417 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 AlaXp Summary Predicted to enable Ser-tRNA(Ala) hydrolase activity. Predicted to be involved in regulation of translational fidelity. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 38.9), brain (RPKM 14.2) and 25 other tissues See more Orthologs mouse all
AARSD1P1, Official Symbol AARSD1P1provided by HGNC Official Full Name AARSD1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54994 See related Ensembl:ENSG00000234969 AllianceGenome:HGNC:54994 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AASDH, Official Symbol AASDHprovided by HGNC Official Full Name aminoadipate-semialdehyde dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:23993 See related Ensembl:ENSG00000157426 MIM:614365; AllianceGenome:HGNC:23993 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 LYS2; ACSF4; NRPS998; NRPS1098 Summary This gene encodes a member of the non-ribosome peptide syntesase (NRPS) enzyme family. The encoded protein contains an AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine 4'phosphate-binding) domain and the Pyrrolo-quinoline quinon (PQQ) binding domain. The protein is expressed in several adult tissues. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in thyroid (RPKM 3.4), ovary (RPKM 3.2) and 25 other tissues See more Orthologs mouse all
AASDHPPT, Official Symbol AASDHPPTprovided by HGNC Official Full Name aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferaseprovided by HGNC Primary source HGNC:HGNC:14235 See related Ensembl:ENSG00000149313 MIM:607756; AllianceGenome:HGNC:14235 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 ACPS; LYS2; LYS5; CGI-80; AASD-PPT Summary The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 32.8), testis (RPKM 17.4) and 25 other tissues See more Orthologs mouse all
AASS, Official Symbol AASSprovided by HGNC Official Full Name aminoadipate-semialdehyde synthaseprovided by HGNC Primary source HGNC:HGNC:17366 See related Ensembl:ENSG00000008311 MIM:605113; AllianceGenome:HGNC:17366 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 LKRSDH; LORSDH; LKR/SDH Summary This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 13.5), liver (RPKM 12.5) and 24 other tissues See more Orthologs mouse all
AATBC, Official Symbol AATBCprovided by HGNC Official Full Name apoptosis associated transcript in bladder cancerprovided by HGNC Primary source HGNC:HGNC:51526 See related Ensembl:ENSG00000215458 AllianceGenome:HGNC:51526 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 skin (RPKM 2.8), urinary bladder (RPKM 1.3) and 13 other tissues See more
AATF, Official Symbol AATFprovided by HGNC Official Full Name apoptosis antagonizing transcription factorprovided by HGNC Primary source HGNC:HGNC:19235 See related Ensembl:ENSG00000275700 MIM:608463; AllianceGenome:HGNC:19235 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 DED; BFR2; CHE1; CHE-1 Summary The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 16.6), appendix (RPKM 15.2) and 25 other tissues See more Orthologs mouse all
AATK, Official Symbol AATKprovided by HGNC Official Full Name apoptosis associated tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:21 See related Ensembl:ENSG00000181409 MIM:605276; AllianceGenome:HGNC:21 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 LMR1; AATYK; LMTK1; p35BP; AATYK1; PPP1R77 Summary The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] Expression Biased expression in brain (RPKM 12.1), duodenum (RPKM 7.0) and 11 other tissues See more Orthologs mouse all
ABALON, Official Symbol ABALONprovided by HGNC Official Full Name apoptotic BCL2L1-antisense long non-coding RNAprovided by HGNC Primary source HGNC:HGNC:49667 See related Ensembl:ENSG00000281376 MIM:616018; AllianceGenome:HGNC:49667 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 INXS
ABAT, Official Symbol ABATprovided by HGNC Official Full Name 4-aminobutyrate aminotransferaseprovided by HGNC Primary source HGNC:HGNC:23 See related Ensembl:ENSG00000183044 MIM:137150; AllianceGenome:HGNC:23 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 GABAT; NPD009; GABA-AT Summary 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 93.2), kidney (RPKM 61.6) and 11 other tissues See more Orthologs mouse all
ABCA1, Official Symbol ABCA1provided by HGNC Official Full Name ATP binding cassette subfamily A member 1provided by HGNC Primary source HGNC:HGNC:29 See related Ensembl:ENSG00000165029 MIM:600046; AllianceGenome:HGNC:29 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 TGD; ABC1; CERP; ABC-1; HDLDT1; HPALP1; HDLCQTL13 Summary The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019] Expression Ubiquitous expression in adrenal (RPKM 14.4), fat (RPKM 9.9) and 23 other tissues See more Orthologs mouse all
ABCA10, Official Symbol ABCA10provided by HGNC Official Full Name ATP binding cassette subfamily A member 10provided by HGNC Primary source HGNC:HGNC:30 See related Ensembl:ENSG00000154263 MIM:612508; AllianceGenome:HGNC:30 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 EST698739 Summary The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. [provided by RefSeq, Jul 2008] Expression Broad expression in ovary (RPKM 9.1), fat (RPKM 3.8) and 18 other tissues See more Orthologs all
ABCA11P, Official Symbol ABCA11Pprovided by HGNC Official Full Name ATP binding cassette subfamily A member 11, pseudogeneprovided by HGNC Primary source HGNC:HGNC:31 See related Ensembl:ENSG00000251595 AllianceGenome:HGNC:31 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ABCA11; EST1133530 Expression Ubiquitous expression in skin (RPKM 4.6), brain (RPKM 4.5) and 25 other tissues See more
ABCA12, Official Symbol ABCA12provided by HGNC Official Full Name ATP binding cassette subfamily A member 12provided by HGNC Primary source HGNC:HGNC:14637 See related Ensembl:ENSG00000144452 MIM:607800; AllianceGenome:HGNC:14637 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 LI2; ICR2B; ARCI4A; ARCI4B Summary The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 10.7) and colon (RPKM 0.6) See more Orthologs mouse all
ABCA13, Official Symbol ABCA13provided by HGNC Official Full Name ATP binding cassette subfamily A member 13provided by HGNC Primary source HGNC:HGNC:14638 See related Ensembl:ENSG00000179869 MIM:607807; AllianceGenome:HGNC:14638 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 In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. Like other ABC transmembrane transporter proteins, this protein has 12 or more transmembrane alpha-helix domains that likely arrange to form a single central chamber with multiple substrate binding sites. It is also predicted to have two large extracellular domains and two nucleotide binding domains as is typical for ABCA proteins. Alternative splice variants have been described but their biological validity has not been demonstrated.[provided by RefSeq, Mar 2009] Expression Biased expression in bone marrow (RPKM 8.6) and thyroid (RPKM 0.4) See more Orthologs mouse all
ABCA17P, Official Symbol ABCA17Pprovided by HGNC Official Full Name ATP binding cassette subfamily A member 17, pseudogeneprovided by HGNC Primary source HGNC:HGNC:32972 See related Ensembl:ENSG00000238098 AllianceGenome:HGNC:32972 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ABCA17 Summary Predicted to act upstream of or within neutral lipid metabolic process. Predicted to be located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 1.5) and brain (RPKM 0.1) See more
ABCA2, Official Symbol ABCA2provided by HGNC Official Full Name ATP binding cassette subfamily A member 2provided by HGNC Primary source HGNC:HGNC:32 See related Ensembl:ENSG00000107331 MIM:600047; AllianceGenome:HGNC:32 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 ABC2; IDPOGSA Summary The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 47.6), thyroid (RPKM 9.5) and 20 other tissues See more Orthologs mouse all
ABCA3, Official Symbol ABCA3provided by HGNC Official Full Name ATP binding cassette subfamily A member 3provided by HGNC Primary source HGNC:HGNC:33 See related Ensembl:ENSG00000167972 MIM:601615; AllianceGenome:HGNC:33 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 ABC3; ABC-C; SMDP3; LBM180; EST111653 Summary The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008] Expression Biased expression in lung (RPKM 66.7), brain (RPKM 21.3) and 5 other tissues See more Orthologs all
ABCA4, Official Symbol ABCA4provided by HGNC Official Full Name ATP binding cassette subfamily A member 4provided by HGNC Primary source HGNC:HGNC:34 See related Ensembl:ENSG00000198691 MIM:601691; AllianceGenome:HGNC:34 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 FFM; RMP; ABCR; RP19; STGD; ABC10; ARMD2; CORD3; STGD1 Summary The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, and the gene product mediates transport of an essental molecule, all-trans-retinal aldehyde (atRAL), across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Sep 2019] Expression Biased expression in kidney (RPKM 2.3), small intestine (RPKM 0.8) and 6 other tissues See more Orthologs mouse all