ATPase, H+ transporting, lysosomal V0 subunit a1

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

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
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17q21.2Start42,458,844 bp[1]
End42,522,611 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

535

11975

Ensembl

ENSG00000033627

ENSMUSG00000019302

UniProt

Q93050

Q9Z1G4

RefSeq (mRNA)

NM_001130020
NM_001130021
NM_005177

RefSeq (protein)

NP_001123492
NP_001123493
NP_005168

Location (UCSC)Chr 17: 42.46 – 42.52 MbChr 11: 101.01 – 101.06 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. GRCh38: Ensembl release 89: ENSG00000033627 - Ensembl, May 2017
  2. 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" (PDF). Genomics. 25 (1): 238–47. doi:10.1016/0888-7543(95)80131-5. PMID 7774924.
  6. "Entrez Gene: ATP6V0A1 ATPase, H+ transporting, lysosomal V0 subunit a1".

Further reading


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