ATP6V1G1
ATPase H+ transporting V1 subunit G1
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. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq, Jul 2008]
Known Variants7 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs781231977 | 9:117,350,165 | A/G | — | uncertain significance |
| rs1845139921 | 9:117,350,199 | A/C | — | uncertain significance |
| rs72752535 | 9:117,354,865 | A/C | missense variant | — |
| rs145627791 | 9:117,359,899 | A/T | — | uncertain significance |
| rs746406910 | 9:117,359,902 | A/C | — | uncertain significance |
| rs540425306 | 9:117,359,985 | C/T | — | uncertain significance |
| rs754577497 | 9:117,360,009 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.