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

rsidPosition (GRCh37)AllelesClassClinVar
rs143623275516:67,472,454C/Tuncertain significance
rs55180364016:67,472,471C/Tuncertain significance
rs37159159816:67,472,490C/Tuncertain significance
rs250861493516:67,472,701G/Auncertain significance
rs37108788616:67,472,920C/Tuncertain significance
rs37447422516:67,473,037C/Tuncertain significance
rs75027347516:67,478,494C/Tuncertain significance
rs11771317616:67,503,354C/T
rs3571447516:67,515,174A/Gregulatory region variant

Gene information from NCBI Gene. Variant classifications from ClinVar.