ATP6V1B1 Products

Description

ATP6V1B1 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. [provided by RefSeq]

Bioinformatics

Entrez	525 Human
Uniprot	AAH63411 Human NM_001692 Human NP_001683 Human NP_001683.2 Human P15313 Human
Product By Gene ID	525
Alternate Names	ATP6B158kD subunit ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 Endomembrane proton pump 58 kDa subunit H+-ATPase beta 1 subunit vacuolar proton pump 3 Vacuolar proton pump subunit B 1 vacuolar proton pump, subunit 3 VATBMGC32642 V-ATPase B1 subunit V-ATPase subunit B 1 Vma2 V-type proton ATPase subunit B, kidney isoform