Gene Symbol | ATP6V1E1 |
Entrez Gene ID | 529 |
Full Name | ATPase H+ transporting V1 subunit E1 |
Synonyms | ARCL2C,ATP6E,ATP6E2,ATP6V1E,P31,Vma4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Cutis laxa, autosomal recessive, type IIC, 617402 (3) |