ATP6V1E1

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]

Description

ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1

Protein family

Mapped to UniProt SWISS-PROT, Transporters

Chromosome

22:q11.21 (18074902 - 18111584)

Ensembl ID

ENSG00000131100  (ver. 71.37)

Orthologs

Mouse Atp6v1e1: ENSMUSG00000019210

Human splice variants
Mouse splice variants