ATP6V0A1
Identifiers
AliasesATP6V0A1, Atp6v0a1, AA959968, ATP6a1, Atp6n1, Atp6n1a, Atpv0a1, Vpp-1, Vpp1, Stv1, Vph1, a1, ATPase, H+ transporting, lysosomal V0 subunit a1, ATP6N1, ATP6N1A, VPP1, ATPase H+ transporting V0 subunit a1
External IDsOMIM: 192130 MGI: 103286 HomoloGene: 3795 GeneCards: ATP6V0A1
Orthologs
SpeciesHumanMouse
Entrez

535

11975

Ensembl

ENSG00000033627

ENSMUSG00000019302

UniProt

Q93050

Q9Z1G4

RefSeq (mRNA)

NM_001130020
NM_001130021
NM_005177

RefSeq (protein)
Location (UCSC)Chr 17: 42.46 – 42.52 MbChr 11: 100.9 – 100.95 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

V-type proton ATPase 116 kDa subunit a isoform 1 is an enzyme that in humans is encoded by the ATP6V0A1 gene.[5][6]

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 gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. The occurrence of splice variants encoding different protein products has been reported, but the full-length natures of these transcripts have not been determined.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000033627 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000019302 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ Brody LC, Abel KJ, Castilla LH, Couch FJ, McKinley DR, Yin G, Ho PP, Merajver S, Chandrasekharappa SC, Xu J, et al. (Jul 1995). "Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17". Genomics. 25 (1): 238–47. doi:10.1016/0888-7543(95)80131-5. PMID 7774924.
  6. 1 2 "Entrez Gene: ATP6V0A1 ATPase, H+ transporting, lysosomal V0 subunit a1".

Further reading


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