ATP6V0D1
ATPase H+ transporting V0 subunit d1
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 encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1436232755 | 16:67,472,454 | C/T | — | uncertain significance |
| rs551803640 | 16:67,472,471 | C/T | — | uncertain significance |
| rs371591598 | 16:67,472,490 | C/T | — | uncertain significance |
| rs2508614935 | 16:67,472,701 | G/A | — | uncertain significance |
| rs371087886 | 16:67,472,920 | C/T | — | uncertain significance |
| rs374474225 | 16:67,473,037 | C/T | — | uncertain significance |
| rs750273475 | 16:67,478,494 | C/T | — | uncertain significance |
| rs117713176 | 16:67,503,354 | C/T | — | — |
| rs35714475 | 16:67,515,174 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.