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ATP6V1D

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
ATP6V1D
Identifiers
AliasesATP6V1D, ATP6M, VATD, VMA8, ATPase H+ transporting V1 subunit D
External IDsOMIM:609398;MGI:1921084;HomoloGene:5783;GeneCards:ATP6V1D;OMA:ATP6V1D - orthologs
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for ATP6V1D
Genomic location for ATP6V1D
Band14q23.3Start67,294,371bp[1]
End67,360,265bp[1]
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)[2]
Chromosome 12 (mouse)
Genomic location for ATP6V1D
Genomic location for ATP6V1D
Band12 C3|12 35.51 cMStart78,887,499bp[2]
End78,908,412bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • endothelial cell

  • middle temporal gyrus

  • Brodmann area 23

  • Pons

  • lateral nuclear group of thalamus

  • prefrontal cortex

  • Brodmann area 9

  • pars compacta

  • kidney tubule

  • superior vestibular nucleus
Top expressed in
  • motor neuron

  • facial motor nucleus

  • Epithelium of choroid plexus

  • vestibular membrane of cochlear duct

  • substantia nigra

  • nucleus accumbens

  • Temporal Lobe

  • Amygdala

  • prefrontal cortex

  • retinal pigment epithelium
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

51382

73834

Ensembl

ENSG00000100554

ENSMUSG00000021114

UniProt

Q9Y5K8

P57746

RefSeq (mRNA)

NM_015994

NM_023721

RefSeq (protein)

NP_057078
NP_057078.1

NP_076210

Location (UCSC)Chr 14: 67.29 – 67.36 MbChr 12: 78.89 – 78.91 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

V-type proton ATPase subunit D is anenzyme that in humans is encoded by theATP6V1Dgene.[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 the V1 domain D subunit protein.[6]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000100554Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000021114Ensembl, 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. ^Stevens TH, Forgac M (Feb 1998). "Structure, function and regulation of the vacuolar (H+)-ATPase".Annu Rev Cell Dev Biol.13:779–808.doi:10.1146/annurev.cellbio.13.1.779.PMID 9442887.
  6. ^ab"Entrez Gene: ATP6V1D ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D".

External links

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Further reading

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