ATP6V0C
Identifiers
AliasesATP6V0C, ATP6C, ATP6L, ATPL, VATL, VPPC, Vma3, ATPase H+ transporting V0 subunit c
External IDsOMIM: 108745 MGI: 88116 HomoloGene: 68199 GeneCards: ATP6V0C
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

Location (UCSC)Chr 16: 2.51 – 2.52 MbChr 17: 24.16 – 24.17 Mb
PubMed search[3][4]
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.[5][6][7]

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.[7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000185883 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024121 - 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. 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. 1 2 "Entrez Gene: ATP6V0C ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c".

Further reading


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