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ATPase, H+ transporting, lysosomal V0 subunit a1

From Wikipedia, the free encyclopedia
(Redirected fromATP6V0A1)
Protein-coding gene in the species Homo sapiens
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;OMA:ATP6V0A1 - orthologs
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for ATP6V0A1
Genomic location for ATP6V0A1
Band17q21.2Start42,458,844bp[1]
End42,522,611bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for ATP6V0A1
Genomic location for ATP6V0A1
Band11 D|11 64.04 cMStart100,900,278bp[2]
End100,954,545bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right frontal lobe

  • right hemisphere of cerebellum

  • prefrontal cortex

  • cingulate gyrus

  • anterior cingulate cortex

  • Brodmann area 9

  • anterior pituitary

  • nucleus accumbens

  • C1 segment

  • Hypothalamus
Top expressed in
  • superior frontal gyrus

  • dentate gyrus of hippocampal formation granule cell

  • primary visual cortex

  • subiculum

  • cerebellar cortex

  • perirhinal cortex

  • piriform cortex

  • neural layer of retina

  • dorsomedial hypothalamic nucleus

  • entorhinal cortex
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

535

11975

Ensembl

ENSG00000033627

ENSMUSG00000019302

UniProt

Q93050

Q9Z1G4

RefSeq (mRNA)

NM_001130020
NM_001130021
NM_005177

NM_001243049
NM_001243050
NM_001243051
NM_016920
NM_001362636

NM_001362637
NM_001362638
NM_001362639
NM_001362640
NM_001362641

RefSeq (protein)
NP_001123492
NP_001123493
NP_005168
NP_001365451
NP_001365452

NP_001365459
NP_001365460
NP_001365461
NP_001365462
NP_001365463
NP_001365464
NP_001365465
NP_001365466
NP_001365467
NP_001365468
NP_001365469
NP_001365470
NP_001365471
NP_001365472
NP_001365473
NP_001365474
NP_001365475
NP_001365476
NP_001365477
NP_001365478
NP_001365479
NP_001365480
NP_001365481
NP_001365483
NP_001365485
NP_001365486

NP_001229978
NP_001229979
NP_001229980
NP_058616
NP_001349565

NP_001349566
NP_001349567
NP_001349568
NP_001349569
NP_001349570

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 anenzyme that in humans is encoded by theATP6V0A1gene.[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

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000033627Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000019302Ensembl, 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. ^ab"Entrez Gene: ATP6V0A1 ATPase, H+ transporting, lysosomal V0 subunit a1".

External links

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Further reading

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