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ATP6V1D

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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)
Chromosome 14 (human)Genomic location for ATP6V1DGenomic location for ATP6V1D
Band14q23.3Start67,294,371 bp
End67,360,265 bp
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)
Chromosome 12 (mouse)Genomic location for ATP6V1DGenomic location for ATP6V1D
Band12 C3|12 35.51 cMStart78,887,499 bp
End78,908,412 bp
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
Wikidata
View/Edit HumanView/Edit Mouse

V-type proton ATPase subunit D is an enzyme that in humans is encoded by the ATP6V1D gene.

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.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000100554Ensembl, May 2017
  2. ^ GRCm38: 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. ^ "Entrez Gene: ATP6V1D ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D".

External links

Further reading


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