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atp6v1b1

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Official Full Name
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
Background
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 one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness.
Synonyms
ATP6V1B1; ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1; ATP6B1, vacuolar proton pump 3 , VPP3; V-type proton ATPase subunit B, kidney isoform; Renal tubular acidosis with deafness; RTA1B; VATB; Vma2; ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kDa, isoform 1; kidney isoform; V type proton ATPase subunit B, kidney isoform; Vpp 3; Vpp3; Atp6b1; ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 1; ATPase, H+ transporting, V1 subunit B, isoform 1; Endomembrane proton pump 58 kDa subunit; H(+) transporting two sector ATPase 58kD subunit; H+ ATPase beta 1 subunit; Lysosomal 56/58kDa; MGC32642; V type proton ATPase subunit B kidney isoform; V-ATPase subunit B 1; V-type proton ATPase subunit B; Vacuolar proton pump 3; Vacuolar proton pump subunit 3; Vacuolar proton pump subunit B 1; VATB1_HUMAN; OTTHUMP00000160125; OTTHUMP00000204311; V-ATPase B1 subunit; H+-ATPase beta 1 subunit; vacuolar proton pump, subunit 3; H(+)-transporting two-sector ATPase, 58kD subunit; VATB, VMA2, VPP3, RTA1B, ATP6B1