Aliases for ATP6V1B1 Gene
External Ids for ATP6V1B1 Gene
Previous HGNC Symbols for ATP6V1B1 Gene
Previous GeneCards Identifiers for 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for ATP6V1B1 Gene
ATP6V1B1 (ATPase H+ Transporting V1 Subunit B1) is a Protein Coding gene. Diseases associated with ATP6V1B1 include Renal Tubular Acidosis With Deafness and Renal Tubular Acidosis. Among its related pathways are Ion channel transport and Immune System. GO annotations related to this gene include protein complex binding and hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances. An important paralog of this gene is ATP6V1B2.
UniProtKB/Swiss-Prot for ATP6V1B1 Gene
Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.