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Gene information for ATP6V1E1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID529
Official gene symbolATP6V1E1
Full nameATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
Aliases,ATP6E,ATP6E2,ATP6V1E,P31,Vma4,
Gene summaryThis 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]
LocationChromosome: 22   Locus: 22pter-q11.2|22q11.1
Gene position18111588 - 18074902  Map Viewer
Gene orientationminus
Gene size36687 bp
Gene sequence
OMIM ID108746