psui3905/ncbi_genes_summary huggingface dataset:
ANOS1, Official Symbol ANOS1provided by HGNC Official Full Name anosmin 1provided by HGNC Primary source HGNC:HGNC:6211 See related Ensembl:ENSG00000011201 MIM:300836; AllianceGenome:HGNC:6211 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 HH1; HHA; KAL; KMS; KAL1; ADMLX; WFDC19; KALIG-1 Summary Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008] Expression Biased expression in lung (RPKM 32.9), brain (RPKM 13.1) and 6 other tissues See more Orthologs all
ANP32A, Official Symbol ANP32Aprovided by HGNC Official Full Name acidic nuclear phosphoprotein 32 family member Aprovided by HGNC Primary source HGNC:HGNC:13233 See related Ensembl:ENSG00000140350 MIM:600832; AllianceGenome:HGNC:13233 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 LANP; MAPM; PP32; HPPCn; PHAP1; PHAPI; I1PP2A; C15orf1 Summary Enables RNA binding activity. Involved in nucleocytoplasmic transport. Located in endoplasmic reticulum; nucleus; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 45.8), bone marrow (RPKM 40.5) and 25 other tissues See more Orthologs mouse all
ANP32AP1, Official Symbol ANP32AP1provided by HGNC Official Full Name acidic nuclear phosphoprotein 32 family member A pseudogene 1provided by HGNC Primary source HGNC:HGNC:42949 See related Ensembl:ENSG00000259516 AllianceGenome:HGNC:42949 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ANP32B, Official Symbol ANP32Bprovided by HGNC Official Full Name acidic nuclear phosphoprotein 32 family member Bprovided by HGNC Primary source HGNC:HGNC:16677 See related Ensembl:ENSG00000136938 MIM:619823; AllianceGenome:HGNC:16677 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 APRIL; SSP29; PHAPI2 Summary Enables RNA polymerase binding activity and histone binding activity. Involved in several processes, including activation of cysteine-type endopeptidase activity involved in apoptotic process; nucleosome assembly; and positive regulation of protein export from nucleus. Located in cytoplasm and nucleoplasm. Colocalizes with nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 88.8), lymph node (RPKM 73.8) and 25 other tissues See more Orthologs mouse all
ANP32BP1, Official Symbol ANP32BP1provided by HGNC Official Full Name acidic nuclear phosphoprotein 32 family member B pseudogene 1provided by HGNC Primary source HGNC:HGNC:24267 See related Ensembl:ENSG00000259790 AllianceGenome:HGNC:24267 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ANP32D, Official Symbol ANP32Dprovided by HGNC Official Full Name acidic nuclear phosphoprotein 32 family member Dprovided by HGNC Primary source HGNC:HGNC:16676 See related Ensembl:ENSG00000139223 MIM:606878; AllianceGenome:HGNC:16676 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 PP32R2 Summary Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is absent in the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008] Orthologs all
ANP32E, Official Symbol ANP32Eprovided by HGNC Official Full Name acidic nuclear phosphoprotein 32 family member Eprovided by HGNC Primary source HGNC:HGNC:16673 See related Ensembl:ENSG00000143401 MIM:609611; AllianceGenome:HGNC:16673 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 LANPL; LANP-L Summary Enables histone binding activity. Involved in histone exchange. Located in nucleus. Part of Swr1 complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 31.5), bone marrow (RPKM 21.4) and 24 other tissues See more Orthologs mouse all
ANPEP, Official Symbol ANPEPprovided by HGNC Official Full Name alanyl aminopeptidase, membraneprovided by HGNC Primary source HGNC:HGNC:500 See related Ensembl:ENSG00000166825 MIM:151530; AllianceGenome:HGNC:500 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 APN; AP-M; AP-N; CD13; LAP1; P150; PEPN; hAPN; GP150 Summary Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. This membrane-bound zinc metalloprotease is known to serve as a receptor for the HCoV-229E alphacoronavirus as well as other non-human coronaviruses. This gene has also been shown to promote angiogenesis, tumor growth, and metastasis and defects in this gene are associated with various types of leukemia and lymphoma. [provided by RefSeq, Apr 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process. Expression Biased expression in duodenum (RPKM 1193.1), small intestine (RPKM 1007.5) and 5 other tissues See more Orthologs mouse all
ANTKMT, Official Symbol ANTKMTprovided by HGNC Official Full Name adenine nucleotide translocase lysine methyltransferaseprovided by HGNC Primary source HGNC:HGNC:14152 See related Ensembl:ENSG00000103254 MIM:618566; AllianceGenome:HGNC:14152 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 ANT-KMT; FAM173A; C16orf24 Summary Enables protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine trimethylation. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 5.7), colon (RPKM 4.4) and 22 other tissues See more Orthologs mouse all
ANTXR1, Official Symbol ANTXR1provided by HGNC Official Full Name ANTXR cell adhesion molecule 1provided by HGNC Primary source HGNC:HGNC:21014 See related Ensembl:ENSG00000169604 MIM:606410; AllianceGenome:HGNC:21014 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 ATR; GAPO; TEM8 Summary This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008] Expression Broad expression in gall bladder (RPKM 37.4), ovary (RPKM 30.6) and 21 other tissues See more Orthologs mouse all
ANTXR2, Official Symbol ANTXR2provided by HGNC Official Full Name ANTXR cell adhesion molecule 2provided by HGNC Primary source HGNC:HGNC:21732 See related Ensembl:ENSG00000163297 MIM:608041; AllianceGenome:HGNC:21732 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 HFS; ISH; JHF; CMG2; CMG-2 Summary This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Expression Broad expression in prostate (RPKM 24.4), endometrium (RPKM 22.7) and 21 other tissues See more Orthologs mouse all
ANTXRL, Official Symbol ANTXRLprovided by HGNC Official Full Name ANTXR likeprovided by HGNC Primary source HGNC:HGNC:27277 See related Ensembl:ENSG00000274209 AllianceGenome:HGNC:27277 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 transmembrane signaling receptor activity. Predicted to be involved in toxin transport. Predicted to be integral component of membrane. Predicted to be active in cell surface and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 3.2) See more Orthologs mouse all
ANXA1, Official Symbol ANXA1provided by HGNC Official Full Name annexin A1provided by HGNC Primary source HGNC:HGNC:533 See related Ensembl:ENSG00000135046 MIM:151690; AllianceGenome:HGNC:533 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 ANX1; LPC1 Summary This gene encodes a membrane-localized protein that binds phospholipids. This protein inhibits phospholipase A2 and has anti-inflammatory activity. Loss of function or expression of this gene has been detected in multiple tumors. [provided by RefSeq, Dec 2014] Expression Biased expression in esophagus (RPKM 2850.3), bone marrow (RPKM 574.5) and 4 other tissues See more Orthologs mouse all
ANXA10, Official Symbol ANXA10provided by HGNC Official Full Name annexin A10provided by HGNC Primary source HGNC:HGNC:534 See related Ensembl:ENSG00000109511 MIM:608008; AllianceGenome:HGNC:534 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 ANX14 Summary This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The function of this gene has not yet been determined. [provided by RefSeq, Jul 2008] Expression Biased expression in stomach (RPKM 190.8), urinary bladder (RPKM 26.5) and 1 other tissue See more Orthologs mouse all
ANXA11, Official Symbol ANXA11provided by HGNC Official Full Name annexin A11provided by HGNC Primary source HGNC:HGNC:535 See related Ensembl:ENSG00000122359 MIM:602572; AllianceGenome:HGNC:535 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 ALS23; ANX11; CAP50; CAP-50; IBMWMA Summary This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in esophagus (RPKM 36.2), heart (RPKM 32.2) and 25 other tissues See more Orthologs mouse all
ANXA13, Official Symbol ANXA13provided by HGNC Official Full Name annexin A13provided by HGNC Primary source HGNC:HGNC:536 See related Ensembl:ENSG00000104537 MIM:602573; AllianceGenome:HGNC:536 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 ISA; ANX13 Summary This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Biased expression in duodenum (RPKM 128.9), small intestine (RPKM 99.0) and 3 other tissues See more Orthologs mouse all
ANXA2, Official Symbol ANXA2provided by HGNC Official Full Name annexin A2provided by HGNC Primary source HGNC:HGNC:537 See related Ensembl:ENSG00000182718 MIM:151740; AllianceGenome:HGNC:537 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 P36; ANX2; LIP2; LPC2; CAL1H; LPC2D; ANX2L4; PAP-IV; HEL-S-270 Summary This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. Annexin A2 expression has been found to correlate with resistance to treatment against various cancer forms. [provided by RefSeq, Dec 2019] Expression Ubiquitous expression in esophagus (RPKM 162.2), skin (RPKM 128.5) and 24 other tissues See more Orthologs mouse all
ANXA2P2, Official Symbol ANXA2P2provided by HGNC Official Full Name annexin A2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:539 See related AllianceGenome:HGNC:539 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 LPC2B; ANX2L2; ANX2P2 Summary Predicted to enable several functions, including phospholipase A2 inhibitor activity; phospholipid binding activity; and virion binding activity. Predicted to be involved in calcium ion transmembrane transport and negative regulation of catalytic activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
ANXA2R, Official Symbol ANXA2Rprovided by HGNC Official Full Name annexin A2 receptorprovided by HGNC Primary source HGNC:HGNC:33463 See related Ensembl:ENSG00000177721 MIM:611296; AllianceGenome:HGNC:33463 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 AX2R; AXIIR; C5orf39 Summary Predicted to enable signaling receptor activity. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
ANXA3, Official Symbol ANXA3provided by HGNC Official Full Name annexin A3provided by HGNC Primary source HGNC:HGNC:541 See related Ensembl:ENSG00000138772 MIM:106490; AllianceGenome:HGNC:541 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 ANX3 Summary This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 99.1), lung (RPKM 76.4) and 15 other tissues See more Orthologs mouse all
ANXA4, Official Symbol ANXA4provided by HGNC Official Full Name annexin A4provided by HGNC Primary source HGNC:HGNC:542 See related Ensembl:ENSG00000196975 MIM:106491; AllianceGenome:HGNC:542 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 ANX4; P32.5; PIG28; PP4-X; ZAP36; PAP-II; HEL-S-274 Summary Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2016] Expression Broad expression in gall bladder (RPKM 187.6), duodenum (RPKM 64.1) and 17 other tissues See more Orthologs mouse all
ANXA5, Official Symbol ANXA5provided by HGNC Official Full Name annexin A5provided by HGNC Primary source HGNC:HGNC:543 See related Ensembl:ENSG00000164111 MIM:131230; AllianceGenome:HGNC:543 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 PP4; ANX5; ENX2; CPB-I; RPRGL3; HEL-S-7; VAC-alph Summary The Annexin 5 gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa.The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. Polymorphisms in this gene have been implicated in various obstetric complications. [provided by RefSeq, Dec 2019] Expression Ubiquitous expression in fat (RPKM 198.4), placenta (RPKM 170.8) and 25 other tissues See more Orthologs mouse all
ANXA6, Official Symbol ANXA6provided by HGNC Official Full Name annexin A6provided by HGNC Primary source HGNC:HGNC:544 See related Ensembl:ENSG00000197043 MIM:114070; AllianceGenome:HGNC:544 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 p68; p70; ANX6; CBP68; CPB-II Summary Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010] Expression Ubiquitous expression in fat (RPKM 141.9), appendix (RPKM 77.0) and 24 other tissues See more Orthologs mouse all
ANXA7, Official Symbol ANXA7provided by HGNC Official Full Name annexin A7provided by HGNC Primary source HGNC:HGNC:545 See related Ensembl:ENSG00000138279 MIM:186360; AllianceGenome:HGNC:545 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 SNX; ANX7; SYNEXIN Summary Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 52.9), kidney (RPKM 46.7) and 25 other tissues See more Orthologs mouse all
ANXA8, Official Symbol ANXA8provided by HGNC Official Full Name annexin A8provided by HGNC Primary source HGNC:HGNC:546 See related Ensembl:ENSG00000265190 MIM:602396; AllianceGenome:HGNC:546 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 ANX8; CH17-360D5.2 Summary This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Jul 2008] Annotation information Note: There are multiple copies of ANXA8-like sequences on human chromosome 10q11. In June, 2007, the locations were re-named to correspond to the order defined by the Human Gene Nomenclature Committee (HGNC). [22 Jun 2007] Expression Biased expression in skin (RPKM 96.8), esophagus (RPKM 57.8) and 3 other tissues See more Orthologs all
ANXA8L1, Official Symbol ANXA8L1provided by HGNC Official Full Name annexin A8 like 1provided by HGNC Primary source HGNC:HGNC:23334 See related Ensembl:ENSG00000264230 AllianceGenome:HGNC:23334 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 ANXA8; ANXA8L2; VAC-beta; bA145E20.2 Summary This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Apr 2014] Annotation information Note: There are multiple copies of ANXA8-like sequences on human chromosome 10q11. In June, 2007, the locations were re-named to correspond to the order defined by the Human Gene Nomenclature Committee (HGNC). [08 Apr 2014] Expression Biased expression in skin (RPKM 202.2), esophagus (RPKM 129.0) and 3 other tissues See more Orthologs all
ANXA9, Official Symbol ANXA9provided by HGNC Official Full Name annexin A9provided by HGNC Primary source HGNC:HGNC:547 See related Ensembl:ENSG00000143412 MIM:603319; AllianceGenome:HGNC:547 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 ANX31 Summary The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [provided by RefSeq, Jul 2008] Expression Broad expression in kidney (RPKM 12.1), thyroid (RPKM 11.7) and 23 other tissues See more Orthologs mouse all
AOAH, Official Symbol AOAHprovided by HGNC Official Full Name acyloxyacyl hydrolaseprovided by HGNC Primary source HGNC:HGNC:548 See related Ensembl:ENSG00000136250 MIM:102593; AllianceGenome:HGNC:548 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 locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010] Expression Biased expression in spleen (RPKM 9.9), appendix (RPKM 5.8) and 13 other tissues See more Orthologs mouse all
AOAH-IT1, Official Symbol AOAH-IT1provided by HGNC Official Full Name AOAH intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41307 See related Ensembl:ENSG00000230539 AllianceGenome:HGNC:41307 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
AOC1, Official Symbol AOC1provided by HGNC Official Full Name amine oxidase copper containing 1provided by HGNC Primary source HGNC:HGNC:80 See related Ensembl:ENSG00000002726 MIM:104610; AllianceGenome:HGNC:80 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 ABP; DAO; KAO; ABP1; DAO1 Summary This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013] Expression Biased expression in placenta (RPKM 229.3), kidney (RPKM 118.3) and 3 other tissues See more Orthologs all
AOC2, Official Symbol AOC2provided by HGNC Official Full Name amine oxidase copper containing 2provided by HGNC Primary source HGNC:HGNC:549 See related Ensembl:ENSG00000131480 MIM:602268; AllianceGenome:HGNC:549 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 RAO; DAO2; SSAO Summary Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 4.0), testis (RPKM 2.5) and 14 other tissues See more Orthologs mouse all
AOC3, Official Symbol AOC3provided by HGNC Official Full Name amine oxidase copper containing 3provided by HGNC Primary source HGNC:HGNC:550 See related Ensembl:ENSG00000131471 MIM:603735; AllianceGenome:HGNC:550 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 HPAO; SSAO; VAP1; VAP-1 Summary This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013] Expression Biased expression in fat (RPKM 252.0), lung (RPKM 69.7) and 8 other tissues See more Orthologs mouse all
AOPEP, Official Symbol AOPEPprovided by HGNC Official Full Name aminopeptidase O (putative)provided by HGNC Primary source HGNC:HGNC:1361 See related Ensembl:ENSG00000148120 MIM:619600; AllianceGenome:HGNC:1361 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 APO; AP-O; DYT31; ONPEP; C90RF3; C9orf3 Summary This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010] Expression Ubiquitous expression in skin (RPKM 4.6), endometrium (RPKM 4.2) and 24 other tissues See more Orthologs mouse all
AOX1, Official Symbol AOX1provided by HGNC Official Full Name aldehyde oxidase 1provided by HGNC Primary source HGNC:HGNC:553 See related Ensembl:ENSG00000138356 MIM:602841; AllianceGenome:HGNC:553 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 AO; AOH1 Summary Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 241.2), adrenal (RPKM 172.5) and 5 other tissues See more Orthologs mouse all
AOX2P, Official Symbol AOX2Pprovided by HGNC Official Full Name aldehyde oxidase 2, pseudogeneprovided by HGNC Primary source HGNC:HGNC:18450 See related Ensembl:ENSG00000243478 AllianceGenome:HGNC:18450 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 AOH2; AOX2; AOX3L1
AP1AR, Official Symbol AP1ARprovided by HGNC Official Full Name adaptor related protein complex 1 associated regulatory proteinprovided by HGNC Primary source HGNC:HGNC:28808 See related Ensembl:ENSG00000138660 MIM:610851; AllianceGenome:HGNC:28808 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 2C18; GBAR; C4orf16; PRO0971; gamma-BAR Summary Enables AP-1 adaptor complex binding activity and kinesin binding activity. Involved in negative regulation of receptor recycling and vesicle targeting, trans-Golgi to endosome. Acts upstream of or within negative regulation of substrate adhesion-dependent cell spreading. Located in Golgi apparatus and transport vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in small intestine (RPKM 6.6), kidney (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
AP1B1, Official Symbol AP1B1provided by HGNC Official Full Name adaptor related protein complex 1 subunit beta 1provided by HGNC Primary source HGNC:HGNC:554 See related Ensembl:ENSG00000100280 MIM:600157; AllianceGenome:HGNC:554 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 ADTB1; BAM22; KIDAR; AP105A; CLAPB2 Summary Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in spleen (RPKM 27.8), lymph node (RPKM 27.6) and 25 other tissues See more Orthologs mouse all
AP1B1P2, Official Symbol AP1B1P2provided by HGNC Official Full Name AP1B1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:298 See related Ensembl:ENSG00000232707 AllianceGenome:HGNC:298 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 ADTB1L2; dJ127L4.3
AP1G1, Official Symbol AP1G1provided by HGNC Official Full Name adaptor related protein complex 1 subunit gamma 1provided by HGNC Primary source HGNC:HGNC:555 See related Ensembl:ENSG00000166747 MIM:603533; AllianceGenome:HGNC:555 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 ADTG; CLAPG1; USRISD Summary Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 21.3), testis (RPKM 19.3) and 25 other tissues See more Orthologs mouse all
AP1G2, Official Symbol AP1G2provided by HGNC Official Full Name adaptor related protein complex 1 subunit gamma 2provided by HGNC Primary source HGNC:HGNC:556 See related Ensembl:ENSG00000213983 MIM:603534; AllianceGenome:HGNC:556 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 G2AD Summary Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. [provided by RefSeq, Aug 2017] Expression Ubiquitous expression in skin (RPKM 20.0), lymph node (RPKM 17.8) and 25 other tissues See more Orthologs mouse all
AP1M1, Official Symbol AP1M1provided by HGNC Official Full Name adaptor related protein complex 1 subunit mu 1provided by HGNC Primary source HGNC:HGNC:13667 See related Ensembl:ENSG00000072958 MIM:603535; AllianceGenome:HGNC:13667 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 AP47; mu1A; CLTNM; MU-1A; CLAPM2 Summary The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 31.3), brain (RPKM 17.8) and 25 other tissues See more Orthologs mouse all
AP1M2, Official Symbol AP1M2provided by HGNC Official Full Name adaptor related protein complex 1 subunit mu 2provided by HGNC Primary source HGNC:HGNC:558 See related Ensembl:ENSG00000129354 MIM:607309; AllianceGenome:HGNC:558 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 mu2; MU1B; MU-1B; HSMU1B; AP1-mu2 Summary This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Broad expression in thyroid (RPKM 36.9), duodenum (RPKM 29.9) and 16 other tissues See more Orthologs mouse all
AP1M2P1, Official Symbol AP1M2P1provided by HGNC Official Full Name AP1M2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54978 See related Ensembl:ENSG00000227534 AllianceGenome:HGNC:54978 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AP1S1, Official Symbol AP1S1provided by HGNC Official Full Name adaptor related protein complex 1 subunit sigma 1provided by HGNC Primary source HGNC:HGNC:559 See related Ensembl:ENSG00000106367 MIM:603531; AllianceGenome:HGNC:559 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 AP19; EKV3; CLAPS1; MEDNIK; SIGMA1A Summary The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 52.8), colon (RPKM 23.4) and 23 other tissues See more Orthologs mouse all
AP1S2, Official Symbol AP1S2provided by HGNC Official Full Name adaptor related protein complex 1 subunit sigma 2provided by HGNC Primary source HGNC:HGNC:560 See related Ensembl:ENSG00000182287 MIM:300629; AllianceGenome:HGNC:560 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 PGS; DC22; MRX59; MRXS5; MRXSF; MRXS21; SIGMA1B Summary Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013] Expression Ubiquitous expression in heart (RPKM 13.6), endometrium (RPKM 13.6) and 23 other tissues See more Orthologs mouse all
AP1S3, Official Symbol AP1S3provided by HGNC Official Full Name adaptor related protein complex 1 subunit sigma 3provided by HGNC Primary source HGNC:HGNC:18971 See related Ensembl:ENSG00000152056 MIM:615781; AllianceGenome:HGNC:18971 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 PSORS15; sigma1C Summary This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Expression Broad expression in thyroid (RPKM 6.9), stomach (RPKM 3.1) and 16 other tissues See more Orthologs mouse all