| Entrez gene ID | | 535 |
|
| Official gene symbol | | ATP6V0A1 |
|
| Full name | | ATPase, H+ transporting, lysosomal V0 subunit a1 |
|
| Aliases | | ,ATP6N1,ATP6N1A,DKFZp781J1951,Stv1,VPP1,Vph1,a1, |
|
| 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 and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
|
| Location | | Chromosome: 17 Locus: 17q21 |
|
| Gene position | | 40610862 - 40674597 Map Viewer |
|
| Gene orientation | | plus |
|
| Gene size | | 63736 bp |
|
| Gene sequence |
| |
|
| OMIM ID | | 192130 |
|
|
|
