ATP6V1E1
Description
The ATP6V1E1 (ATPase H+ transporting V1 subunit E1) is a protein-coding gene located on chromosome 22.
The ATP6V1E1 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 intracellular processes such 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. The ATP6V1E1 gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome.
V-type proton ATPase (V-ATPase) is an enzyme responsible for acidifying and maintaining the pH of intracellular compartments. It is a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. In some cell types, V-ATPase is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment.
ATP6V1E1 is also known as ARCL2C, ATP6E, ATP6E2, ATP6V1E, P31, Vma4.
