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Gene : ATP6V1A Homo sapiens

Name  ? ATPase H+ transporting V1 subunit A Cytological Location  3q13.31
Brief Description  ATPase H transporting V1 subunit A
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 A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]
  • synonyms:
  • IECEE3,
  • ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A,
  • ATP6V1A1,
  • VPP2,
  • uc003eao.4,
  • VPP2,
  • HO68,
  • VA68,
  • ATP6A1,
  • L09235,
  • OTTHUMG00000159295,
  • ATP6V1A1,
  • HGNC:851,
  • VA68,
  • NM_001690,
  • ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1,
  • Vma1,
  • Vma1,
  • ARCL2D,
  • ATP6V1A,
  • ATP6A1
  • identifiers:
  • 523,
  • ENSG00000114573,
  • ATP6V1A

Genome feature

Region: gene ? Length: 65022  
Location: 3:113747035-113812056 Cyto location: 3q13.31


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Disease

2 Diseases

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3756 SN Ps

5 Cross References

20 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results