Entrez gene ID | | 529 |
Official gene symbol | | ATP6V1E1 |
Full name | | ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 |
Aliases | | ,ATP6E,ATP6E2,ATP6V1E,P31,Vma4, |
Gene 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] |
Location | | Chromosome: 22 Locus: 22pter-q11.2|22q11.1 |
Gene position | | 18111588 - 18074902 Map Viewer |
Gene orientation | | minus |
Gene size | | 36687 bp |
Gene sequence |
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OMIM ID | | 108746 |
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