Neha Patil

ATP6V1B1

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Species  Human
Entrez  525
Human  Mouse
Ensembl  ENSG00000116039
ATP6V1B1
Aliases  ATP6V1B1, ATP6B1, RTA1B, VATB, VMA2, VPP3, ATPase H+ transporting V1 subunit B1
External IDs  MGI: 103285 HomoloGene: 68198 GeneCards: ATP6V1B1

V-type proton ATPase subunit B, kidney isoform is an enzyme that in humans is encoded by the ATP6V1B1 gene.

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.

References

ATP6V1B1 Wikipedia


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