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ATP6V1A

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Identifiers
SymbolsATP6V1A ; ATP6A1; ATP6V1A1; HO68; VA68; VPP2; Vma1
External IDsOMIM607027 MGI1201780 HomoloGene123934 IUPHAR: 810 GeneCards: ATP6V1A Gene
EC number3.6.3.14
RNA expression pattern
File:PBB GE ATP6V1A 201972 at tn.png
File:PBB GE ATP6V1A 201971 s at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez52311964
EnsemblENSG00000114573ENSMUSG00000052459
UniProtP38606P50516
RefSeq (mRNA)NM_001690NM_007508
RefSeq (protein)NP_001681NP_031534
Location (UCSC)Chr 3:
113.47 – 113.53 Mb
Chr 16:
44.09 – 44.14 Mb
PubMed search[1][2]

V-type proton ATPase catalytic subunit A is an enzyme that in humans is encoded by the ATP6V1A gene.[1][2]

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.[2]

References

  1. ^ van Hille B, Richener H, Evans DB, Green JR, Bilbe G (May 1993). "Identification of two subunit A isoforms of the vacuolar H(+)-ATPase in human osteoclastoma". J Biol Chem 268 (10): 7075–80. PMID 8463241. 
  2. ^ a b "Entrez Gene: ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A". 

Further reading

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