psui3905/ncbi_genes_summary huggingface dataset:
AP2A1, Official Symbol AP2A1provided by HGNC Official Full Name adaptor related protein complex 2 subunit alpha 1provided by HGNC Primary source HGNC:HGNC:561 See related Ensembl:ENSG00000196961 MIM:601026; AllianceGenome:HGNC:561 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 ADTAA; CLAPA1; AP2-ALPHA Summary This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 42.9), brain (RPKM 24.7) and 25 other tissues See more Orthologs mouse all
AP2A2, Official Symbol AP2A2provided by HGNC Official Full Name adaptor related protein complex 2 subunit alpha 2provided by HGNC Primary source HGNC:HGNC:562 See related Ensembl:ENSG00000183020 MIM:607242; AllianceGenome:HGNC:562 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 HIP9; HYPJ; ADTAB; HIP-9; CLAPA2 Summary The protein encoded by this gene is a subunit of the AP-2 adaptor protein complex, which is involved in linking lipid and protein membrane components with the clathrin lattice. This interaction supports the formation of clathrin-coated vesicles, and the encoded subunit aids in the process by binding polyphosphoinositide-containing lipids in the cell membrane. [provided by RefSeq, Nov 2016] Expression Ubiquitous expression in spleen (RPKM 30.8), brain (RPKM 22.0) and 25 other tissues See more Orthologs mouse all
AP2B1, Official Symbol AP2B1provided by HGNC Official Full Name adaptor related protein complex 2 subunit beta 1provided by HGNC Primary source HGNC:HGNC:563 See related Ensembl:ENSG00000006125 MIM:601025; AllianceGenome:HGNC:563 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 ADTB2; AP105B; CLAPB1; AP2-BETA Summary The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 64.4), testis (RPKM 50.1) and 25 other tissues See more Orthologs mouse all
AP2B1P1, Official Symbol AP2B1P1provided by HGNC Official Full Name AP2B1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:55017 See related Ensembl:ENSG00000234130 AllianceGenome:HGNC:55017 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AP2M1, Official Symbol AP2M1provided by HGNC Official Full Name adaptor related protein complex 2 subunit mu 1provided by HGNC Primary source HGNC:HGNC:564 See related Ensembl:ENSG00000161203 MIM:601024; AllianceGenome:HGNC:564 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; AP50; MRD60; CLAPM1 Summary This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015] Expression Ubiquitous expression in brain (RPKM 196.0), adrenal (RPKM 156.4) and 25 other tissues See more Orthologs mouse all
AP2S1, Official Symbol AP2S1provided by HGNC Official Full Name adaptor related protein complex 2 subunit sigma 1provided by HGNC Primary source HGNC:HGNC:565 See related Ensembl:ENSG00000042753 MIM:602242; AllianceGenome:HGNC:565 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 AP17; FBH3; HHC3; FBHOk; CLAPS2 Summary One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in placenta (RPKM 25.3), brain (RPKM 23.2) and 25 other tissues See more Orthologs mouse all
AP3B1, Official Symbol AP3B1provided by HGNC Official Full Name adaptor related protein complex 3 subunit beta 1provided by HGNC Primary source HGNC:HGNC:566 See related Ensembl:ENSG00000132842 MIM:603401; AllianceGenome:HGNC:566 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 PE; HPS; HPS2; ADTB3; ADTB3A Summary This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in thyroid (RPKM 10.7), colon (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
AP3B2, Official Symbol AP3B2provided by HGNC Official Full Name adaptor related protein complex 3 subunit beta 2provided by HGNC Primary source HGNC:HGNC:567 See related Ensembl:ENSG00000103723 MIM:602166; AllianceGenome:HGNC:567 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 DEE48; NAPTB; EIEE48 Summary Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017] Expression Biased expression in brain (RPKM 16.0), testis (RPKM 3.0) and 1 other tissue See more Orthologs mouse all
AP3D1, Official Symbol AP3D1provided by HGNC Official Full Name adaptor related protein complex 3 subunit delta 1provided by HGNC Primary source HGNC:HGNC:568 See related Ensembl:ENSG00000065000 MIM:607246; AllianceGenome:HGNC:568 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 ADTD; HPS10; hBLVR Summary The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017] Expression Ubiquitous expression in testis (RPKM 31.2), kidney (RPKM 22.6) and 25 other tissues See more Orthologs mouse all
AP3M1, Official Symbol AP3M1provided by HGNC Official Full Name adaptor related protein complex 3 subunit mu 1provided by HGNC Primary source HGNC:HGNC:569 See related Ensembl:ENSG00000185009 MIM:610366; AllianceGenome:HGNC:569 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in placenta (RPKM 10.7), thyroid (RPKM 10.7) and 25 other tissues See more Orthologs mouse all
AP3M2, Official Symbol AP3M2provided by HGNC Official Full Name adaptor related protein complex 3 subunit mu 2provided by HGNC Primary source HGNC:HGNC:570 See related Ensembl:ENSG00000070718 MIM:610469; AllianceGenome:HGNC:570 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 P47B; AP47B; CLA20 Summary This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008] Expression Broad expression in brain (RPKM 10.7), testis (RPKM 8.6) and 24 other tissues See more Orthologs mouse all
AP3S1, Official Symbol AP3S1provided by HGNC Official Full Name adaptor related protein complex 3 subunit sigma 1provided by HGNC Primary source HGNC:HGNC:2013 See related Ensembl:ENSG00000177879 MIM:601507; AllianceGenome:HGNC:2013 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 CLAPS3; Sigma3A Summary This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in bone marrow (RPKM 9.7), small intestine (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
AP3S2, Official Symbol AP3S2provided by HGNC Official Full Name adaptor related protein complex 3 subunit sigma 2provided by HGNC Primary source HGNC:HGNC:571 See related Ensembl:ENSG00000157823 MIM:602416; AllianceGenome:HGNC:571 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 AP3S3; sigma3b Summary Predicted to be involved in anterograde synaptic vesicle transport and vesicle-mediated transport. Located in intracellular membrane-bounded organelle. Part of AP-3 adaptor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 10.1), thyroid (RPKM 9.4) and 25 other tissues See more Orthologs mouse all
AP4B1, Official Symbol AP4B1provided by HGNC Official Full Name adaptor related protein complex 4 subunit beta 1provided by HGNC Primary source HGNC:HGNC:572 See related Ensembl:ENSG00000134262 MIM:607245; AllianceGenome:HGNC:572 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 CPSQ5; SPG47; BETA-4 Summary This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in bone marrow (RPKM 6.1), spleen (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
AP4B1-AS1, Official Symbol AP4B1-AS1provided by HGNC Official Full Name AP4B1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44114 See related Ensembl:ENSG00000226167 AllianceGenome:HGNC:44114 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in lymph node (RPKM 5.3), bone marrow (RPKM 5.0) and 25 other tissues See more
AP4E1, Official Symbol AP4E1provided by HGNC Official Full Name adaptor related protein complex 4 subunit epsilon 1provided by HGNC Primary source HGNC:HGNC:573 See related Ensembl:ENSG00000081014 MIM:607244; AllianceGenome:HGNC:573 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 CPSQ4; SPG51; STUT1 Summary This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in lymph node (RPKM 2.9), testis (RPKM 2.9) and 25 other tissues See more Orthologs mouse all
AP4M1, Official Symbol AP4M1provided by HGNC Official Full Name adaptor related protein complex 4 subunit mu 1provided by HGNC Primary source HGNC:HGNC:574 See related Ensembl:ENSG00000221838 MIM:602296; AllianceGenome:HGNC:574 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 MU-4; CPSQ3; SPG50; MU-ARP2 Summary This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 12.8), endometrium (RPKM 6.9) and 25 other tissues See more Orthologs mouse all
AP4S1, Official Symbol AP4S1provided by HGNC Official Full Name adaptor related protein complex 4 subunit sigma 1provided by HGNC Primary source HGNC:HGNC:575 See related Ensembl:ENSG00000100478 MIM:607243; AllianceGenome:HGNC:575 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 AP47B; CLA20; CPSQ6; SPG52; CLAPS4 Summary This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in brain (RPKM 1.8), testis (RPKM 1.6) and 25 other tissues See more Orthologs mouse all
AP5B1, Official Symbol AP5B1provided by HGNC Official Full Name adaptor related protein complex 5 subunit beta 1provided by HGNC Primary source HGNC:HGNC:25104 See related Ensembl:ENSG00000254470 MIM:614367; AllianceGenome:HGNC:25104 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 AP-5; PP1030 Summary Involved in endosomal transport. Located in lysosomal membrane. Part of AP-type membrane coat adaptor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 18.6), spleen (RPKM 4.9) and 24 other tissues See more Orthologs mouse all
AP5M1, Official Symbol AP5M1provided by HGNC Official Full Name adaptor related protein complex 5 subunit mu 1provided by HGNC Primary source HGNC:HGNC:20192 See related Ensembl:ENSG00000053770 MIM:614368; AllianceGenome:HGNC:20192 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 Mu5; MuD; MUDENG; C14orf108 Summary Involved in endosomal transport. Located in several cellular components, including cytosol; late endosome; and lysosome. Part of AP-type membrane coat adaptor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 5.4), duodenum (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
AP5S1, Official Symbol AP5S1provided by HGNC Official Full Name adaptor related protein complex 5 subunit sigma 1provided by HGNC Primary source HGNC:HGNC:15875 See related Ensembl:ENSG00000125843 MIM:614824; AllianceGenome:HGNC:15875 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 C20orf29 Summary Involved in double-strand break repair via homologous recombination and endosomal transport. Located in several cellular components, including late endosome; lysosome; and nucleoplasm. Part of AP-type membrane coat adaptor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 4.9), thyroid (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
AP5Z1, Official Symbol AP5Z1provided by HGNC Official Full Name adaptor related protein complex 5 subunit zeta 1provided by HGNC Primary source HGNC:HGNC:22197 See related Ensembl:ENSG00000242802 MIM:613653; AllianceGenome:HGNC:22197 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 zeta; SPG48; KIAA0415 Summary This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in spleen (RPKM 5.9), skin (RPKM 4.3) and 25 other tissues See more Orthologs mouse all
APAF1, Official Symbol APAF1provided by HGNC Official Full Name apoptotic peptidase activating factor 1provided by HGNC Primary source HGNC:HGNC:576 See related Ensembl:ENSG00000120868 MIM:602233; AllianceGenome:HGNC:576 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 CED4; APAF-1 Summary This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 6.1), appendix (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
APBA1, Official Symbol APBA1provided by HGNC Official Full Name amyloid beta precursor protein binding family A member 1provided by HGNC Primary source HGNC:HGNC:578 See related Ensembl:ENSG00000107282 MIM:602414; AllianceGenome:HGNC:578 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 X11; X11A; LIN10; MINT1; D9S411E; X11ALPHA Summary The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 13.2), spleen (RPKM 2.4) and 17 other tissues See more Orthologs mouse all
APBA2, Official Symbol APBA2provided by HGNC Official Full Name amyloid beta precursor protein binding family A member 2provided by HGNC Primary source HGNC:HGNC:579 See related Ensembl:ENSG00000034053 MIM:602712; AllianceGenome:HGNC:579 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 X11L; MINT2; LIN-10; HsT16821; X11-BETA; D15S1518E; MGC:14091 Summary The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2017] Expression Biased expression in brain (RPKM 16.8), spleen (RPKM 2.5) and 4 other tissues See more Orthologs mouse all
APBA3, Official Symbol APBA3provided by HGNC Official Full Name amyloid beta precursor protein binding family A member 3provided by HGNC Primary source HGNC:HGNC:580 See related Ensembl:ENSG00000011132 MIM:604262; AllianceGenome:HGNC:580 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 X11L2; mint3; MGC:15815 Summary The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 4.7), appendix (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
APBB1, Official Symbol APBB1provided by HGNC Official Full Name amyloid beta precursor protein binding family B member 1provided by HGNC Primary source HGNC:HGNC:581 See related Ensembl:ENSG00000166313 MIM:602709; AllianceGenome:HGNC:581 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 RIR; FE65; MGC:9072 Summary The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012] Expression Broad expression in brain (RPKM 44.0), ovary (RPKM 11.7) and 17 other tissues See more Orthologs mouse all
APBB1IP, Official Symbol APBB1IPprovided by HGNC Official Full Name amyloid beta precursor protein binding family B member 1 interacting proteinprovided by HGNC Primary source HGNC:HGNC:17379 See related Ensembl:ENSG00000077420 MIM:609036; AllianceGenome:HGNC:17379 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 RIAM; INAG1; PREL1; RARP1 Summary Predicted to be involved in signal transduction. Predicted to act upstream of or within T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell and positive regulation of cell adhesion. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in appendix (RPKM 24.2), spleen (RPKM 22.5) and 16 other tissues See more Orthologs mouse all
APBB2, Official Symbol APBB2provided by HGNC Official Full Name amyloid beta precursor protein binding family B member 2provided by HGNC Primary source HGNC:HGNC:582 See related Ensembl:ENSG00000163697 MIM:602710; AllianceGenome:HGNC:582 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 FE65L; FE65L1 Summary The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in fat (RPKM 13.0), thyroid (RPKM 11.7) and 24 other tissues See more Orthologs mouse all
APBB3, Official Symbol APBB3provided by HGNC Official Full Name amyloid beta precursor protein binding family B member 3provided by HGNC Primary source HGNC:HGNC:20708 See related Ensembl:ENSG00000113108 MIM:602711; AllianceGenome:HGNC:20708 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 SRA; FE65L2 Summary The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 17.3), adrenal (RPKM 13.2) and 25 other tissues See more Orthologs mouse all
APC, Official Symbol APCprovided by HGNC Official Full Name APC regulator of WNT signaling pathwayprovided by HGNC Primary source HGNC:HGNC:583 See related Ensembl:ENSG00000134982 MIM:611731; AllianceGenome:HGNC:583 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 GS; DP2; DP3; BTPS2; DESMD; DP2.5; PPP1R46 Summary This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Mutations in the APC gene have been found to occur in most colorectal cancers, where disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jun 2022] Annotation information Note: PROC (Gene ID: 5624) and APC (Gene ID: 324) loci share the APC symbol/alias in common. [08 Feb 2019] Expression Ubiquitous expression in brain (RPKM 25.7), colon (RPKM 4.5) and 23 other tissues See more Orthologs mouse all
APC2, Official Symbol APC2provided by HGNC Official Full Name APC regulator of WNT signaling pathway 2provided by HGNC Primary source HGNC:HGNC:24036 See related Ensembl:ENSG00000115266 MIM:612034; AllianceGenome:HGNC:24036 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 APCL; MRT74 Summary This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the assembly of a multiprotein complex that recruits and phosphorylates the Wnt effector beta-catenin and targets beta-catenin for ubiquitylation and proteasomal degradation. This protein therefore plays a role in the reduction of cytoplasmic levels of beta-catenin which in turn reduces activation of Wnt target genes that play a pivotal role in the pathogenesis of various human cancers. The protein encoded by this gene is closely related to the adenomatous polyposis coli (APC) tumor-suppressor protein and has similar tumor-suppressor effects. This gene also plays a role in actin assembly, cell-cell adhesion, and microtubule network formation through its interaction with cytoskeletal proteins. This gene has its highest expression in the central nervous system and is involved in brain development through cytoskeletal regulation in neurons. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017] Expression Biased expression in brain (RPKM 24.7) and adrenal (RPKM 1.1) See more Orthologs mouse all
APCDD1, Official Symbol APCDD1provided by HGNC Official Full Name APC down-regulated 1provided by HGNC Primary source HGNC:HGNC:15718 See related Ensembl:ENSG00000154856 MIM:607479; AllianceGenome:HGNC:15718 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 HHS; HTS; B7323; HYPT1; DRAPC1; FP7019 Summary This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010] Expression Biased expression in skin (RPKM 30.0), fat (RPKM 14.2) and 13 other tissues See more Orthologs mouse all
APCDD1L, Official Symbol APCDD1Lprovided by HGNC Official Full Name APC down-regulated 1 likeprovided by HGNC Primary source HGNC:HGNC:26892 See related Ensembl:ENSG00000198768 AllianceGenome:HGNC:26892 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 Wnt-protein binding activity. Predicted to be involved in negative regulation of Wnt signaling pathway. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in salivary gland (RPKM 5.3), kidney (RPKM 1.7) and 6 other tissues See more Orthologs all
APCDD1L-DT, Official Symbol APCDD1L-DTprovided by HGNC Official Full Name APCDD1L divergent transcriptprovided by HGNC Primary source HGNC:HGNC:27152 See related Ensembl:ENSG00000231290 AllianceGenome:HGNC:27152 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 APCDD1L-AS1 Expression Biased expression in salivary gland (RPKM 1.4), kidney (RPKM 1.2) and 3 other tissues See more
APCS, Official Symbol APCSprovided by HGNC Official Full Name amyloid P component, serumprovided by HGNC Primary source HGNC:HGNC:584 See related Ensembl:ENSG00000132703 MIM:104770; AllianceGenome:HGNC:584 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 SAP; PTX2; HEL-S-92n Summary The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008] Expression Restricted expression toward liver (RPKM 651.4) See more Orthologs mouse all
APEH, Official Symbol APEHprovided by HGNC Official Full Name acylaminoacyl-peptide hydrolaseprovided by HGNC Primary source HGNC:HGNC:586 See related Ensembl:ENSG00000164062 MIM:102645; AllianceGenome:HGNC:586 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 APH; OPH; AARE; ACPH; D3S48E; D3F15S2; DNF15S2 Summary This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 28.3), thyroid (RPKM 22.2) and 25 other tissues See more Orthologs mouse all
APELA, Official Symbol APELAprovided by HGNC Official Full Name apelin receptor early endogenous ligandprovided by HGNC Primary source HGNC:HGNC:48925 See related Ensembl:ENSG00000248329 MIM:615594; AllianceGenome:HGNC:48925 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 ELA; tdl; Ende Summary This gene encodes a peptide hormone that binds to the Apelin receptor. The encoded protein is required for heart development in zebrafish and has been shown to maintain self-renewal of human embryonic stem cells through activation of the PI3K/AKT pathway. Experiments in human and mouse cell lines point to additional roles for the encoded protein in angiogenesis and regulation of vascular tone. [provided by RefSeq, Jul 2016] Expression Biased expression in prostate (RPKM 1.8), kidney (RPKM 0.5) and 2 other tissues See more Orthologs mouse all
APEX1, Official Symbol APEX1provided by HGNC Official Full Name apurinic/apyrimidinic endodeoxyribonuclease 1provided by HGNC Primary source HGNC:HGNC:587 See related Ensembl:ENSG00000100823 MIM:107748; AllianceGenome:HGNC:587 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 APE; APX; APE1; APEN; APEX; HAP1; REF1 Summary The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. The AP sites are the most frequent pre-mutagenic lesions that can prevent normal DNA replication. Splice variants have been found for this gene; all encode the same protein. Disruptions in the biological functions related to APEX are associated with many various malignancies and neurodegenerative diseases.[provided by RefSeq, Dec 2019] Expression Ubiquitous expression in ovary (RPKM 68.7), endometrium (RPKM 60.6) and 25 other tissues See more Orthologs mouse all
APEX2, Official Symbol APEX2provided by HGNC Official Full Name apurinic/apyrimidinic endodeoxyribonuclease 2provided by HGNC Primary source HGNC:HGNC:17889 See related Ensembl:ENSG00000169188 MIM:300773; AllianceGenome:HGNC:17889 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 APE2; XTH2; ZGRF2; APEXL2 Summary Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes a protein shown to have a weak class II AP endonuclease activity. Most of the encoded protein is located in the nucleus but some is also present in mitochondria. This protein may play an important role in both nuclear and mitochondrial base excision repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in placenta (RPKM 8.8), lymph node (RPKM 8.7) and 25 other tissues See more Orthologs mouse all
APH1A, Official Symbol APH1Aprovided by HGNC Official Full Name aph-1 homolog A, gamma-secretase subunitprovided by HGNC Primary source HGNC:HGNC:29509 See related Ensembl:ENSG00000117362 MIM:607629; AllianceGenome:HGNC:29509 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 APH-1; APH-1A; CGI-78; 6530402N02Rik Summary This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in thyroid (RPKM 47.4), colon (RPKM 37.4) and 25 other tissues See more Orthologs mouse all
APH1B, Official Symbol APH1Bprovided by HGNC Official Full Name aph-1 homolog B, gamma-secretase subunitprovided by HGNC Primary source HGNC:HGNC:24080 See related Ensembl:ENSG00000138613 MIM:607630; AllianceGenome:HGNC:24080 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 PSFL; APH-1B; PRO1328; TAAV688; aph-1beta Summary This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011] Expression Broad expression in testis (RPKM 23.1), thyroid (RPKM 13.1) and 22 other tissues See more Orthologs mouse all
API5, Official Symbol API5provided by HGNC Official Full Name apoptosis inhibitor 5provided by HGNC Primary source HGNC:HGNC:594 See related Ensembl:ENSG00000166181 MIM:609774; AllianceGenome:HGNC:594 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 AAC11; AAC-11 Summary This gene encodes an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in thyroid (RPKM 18.0), lymph node (RPKM 15.7) and 25 other tissues See more Orthologs mouse all
API5P1, Official Symbol API5P1provided by HGNC Official Full Name apoptosis inhibitor 5 pseudogene 1provided by HGNC Primary source HGNC:HGNC:595 See related AllianceGenome:HGNC:595 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 API5L1
API5P2, Official Symbol API5P2provided by HGNC Official Full Name apoptosis inhibitor 5 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39070 See related AllianceGenome:HGNC:39070 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo