ATP6V1A

V-type proton ATPase catalytic subunit A is an enzyme that in humans is encoded by the ATP6V1A gene.[5][6]

ATP6V1A
Identifiers
AliasesATP6V1A, ATP6A1, ATP6V1A1, HO68, VA68, VPP2, Vma1, ATPase H+ transporting V1 subunit A, ARCL2D, IECEE3
External IDsOMIM: 607027 MGI: 1201780 HomoloGene: 123934 GeneCards: ATP6V1A
Gene location (Human)
Chr.Chromosome 3 (human)[1]
Band3q13.31Start113,747,033 bp[1]
End113,812,056 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

523

11964

Ensembl

ENSG00000114573

ENSMUSG00000052459

UniProt

P38606

P50516

RefSeq (mRNA)

NM_001690

NM_007508
NM_001358203
NM_001358204

RefSeq (protein)

NP_001681

NP_031534
NP_001345132
NP_001345133

Location (UCSC)Chr 3: 113.75 – 113.81 MbChr 16: 44.09 – 44.14 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 encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000114573 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000052459 - 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. 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.
  6. "Entrez Gene: ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A".

Further reading


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