Full name: ATPase H+ transporting V1 subunit E1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ARCL2C; ATP6E; ATP6E2; ATP6V1E; P31; Vma4

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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]

Expression: Ubiquitous expression in brain (RPKM 104.5), kidney (RPKM 73.8) and 25 other tissues

Gene size: 36687bp

Exon count: 9