Protein Information
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent 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. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]
Synonyms
A4; ATP6N1B; ATP6N2; Atp6v0a4; ATPase H+ transporting V0 subunit a4; ATPase, H+ transporting, lysosomal (vacuolar proton pump) noncatalytic accessory protein 1B; ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B; ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD); ATPase, H+ transporting, lysosomal V0 subunit A4; H(+)-transporting two-sector ATPase, noncatalytic accessory protein 1B; RDRTA2; RTA1C; RTADR; STV1; tcag7.346; vacuol; vacuolar proton pump 116 kDa accessory subunit; vacuolar proton pump, subunit 2; vacuolar proton translocating ATPase 100 kDa a4 subunit; Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4; Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform; V-ATPase 116 kDa; V-ATPase 116 kDa isoform a4; V-ATPase alpha 4; VPH1; VPP2; V-type proton ATPase 116 kDa subunit a; V-type proton ATPase 116 kDa subunit a isoform 4
