ATP6V1A, Official Symbol ATP6V1Aprovided by HGNC Official Full Name ATPase H+ transporting V1 subunit Aprovided by HGNC Primary source HGNC:HGNC:851 See related Ensembl:ENSG00000114573 MIM:607027; AllianceGenome:HGNC:851 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 HO68; VA68; VPP2; Vma1; DEE93; ARCL2D; ATP6A1; IECEE3; ATP6V1A1 Summary This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 61.4), kidney (RPKM 46.5) and 24 other tissues See more Orthologs mouse all