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Gene information for ATP6V1B1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID525
Official gene symbolATP6V1B1
Full nameATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
Aliases,ATP6B1,MGC32642,RTA1B,VATB,VMA2,VPP3,
Gene summaryThis 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. [provided by RefSeq]
LocationChromosome: 2   Locus: 2p13.1
Gene position71162998 - 71192561  Map Viewer
Gene orientationplus
Gene size29564 bp
Gene sequence
OMIM ID192132