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ATP6V0C

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Protein-coding gene in the species Homo sapiens
ATP6V0C
Identifiers
AliasesATP6V0C, ATP6C, ATP6L, ATPL, VATL, VPPC, Vma3, ATPase H+ transporting V0 subunit c
External IDsOMIM: 108745; MGI: 88116; HomoloGene: 68199; GeneCards: ATP6V0C; OMA:ATP6V0C - orthologs
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)
Chromosome 16 (human)Genomic location for ATP6V0CGenomic location for ATP6V0C
Band16p13.3Start2,513,952 bp
End2,520,218 bp
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)
Chromosome 17 (mouse)Genomic location for ATP6V0CGenomic location for ATP6V0C
Band17|17 A3.3Start24,163,866 bp
End24,169,702 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • superior frontal gyrus

  • right frontal lobe

  • right hemisphere of cerebellum

  • primary visual cortex

  • prefrontal cortex

  • Brodmann area 9

  • anterior cingulate cortex

  • anterior pituitary

  • Hypothalamus

  • nucleus accumbens
Top expressed in
  • hippocampus proper

  • primary visual cortex

  • dentate gyrus of hippocampal formation granule cell

  • superior frontal gyrus

  • olfactory bulb

  • Hypothalamus

  • cerebellar cortex

  • basal forebrain

  • striatum of neuraxis

  • right kidney
More reference expression data
BioGPS


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

527

11984

Ensembl

ENSG00000185883

ENSMUSG00000024121

UniProt

P27449

P63082

RefSeq (mRNA)

NM_001694
NM_001198569

NM_009729

RefSeq (protein)

NP_001185498
NP_001685

NP_033859
NP_001348460
NP_001348461
NP_001348462
NP_001348463

NP_001348464

Location (UCSC)Chr 16: 2.51 – 2.52 MbChr 17: 24.16 – 24.17 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

V-type proton ATPase 16 kDa proteolipid subunit is an enzyme that in humans is encoded by the ATP6V0C gene.

Function

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 part of the V0 domain. This gene had the previous symbols of ATP6C and ATP6L.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000185883Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000024121Ensembl, 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. Gillespie GA, Somlo S, Germino GG, Weinstat-Saslow D, Reeders ST (May 1991). "CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel". Proceedings of the National Academy of Sciences of the United States of America. 88 (10): 4289–93. Bibcode:1991PNAS...88.4289G. doi:10.1073/pnas.88.10.4289. PMC 51644. PMID 1709739.
  6. van Hille B, Vanek M, Richener H, Green JR, Bilbe G (Nov 1993). "Cloning and tissue distribution of subunits C, D, and E of the human vacuolar H(+)-ATPase". Biochemical and Biophysical Research Communications. 197 (1): 15–21. doi:10.1006/bbrc.1993.2434. PMID 8250920.
  7. ^ "Entrez Gene: ATP6V0C ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c".

External links

Further reading


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