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Gene : ATP6V1B1 Homo sapiens

Name  ? ATPase H+ transporting V1 subunit B1 Cytological Location  2p13.3
Brief Description  ATPase H transporting V1 subunit B1
Description  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]
  • synonyms:
  • ATP6B1,
  • Renal tubular acidosis with deafness,
  • HGNC:853,
  • OTTHUMG00000129711,
  • RTA1B,
  • ATP6V1B1,
  • VMA2,
  • RTA1B,
  • VPP3,
  • uc002shj.4,
  • ATP6B1,
  • NM_001692,
  • VATB,
  • DRTA2,
  • Vma2,
  • ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1,
  • AF107466,
  • VATB,
  • VPP3,
  • vacuolar proton pump 3
  • identifiers:
  • 525,
  • ENSG00000116039,
  • ATP6V1B1

Genome feature

Region: gene ? Length: 29532  
Location: 2:70935900-70965431 Cyto location: 2p13.3

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1 Diseases

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682 SNPs

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results