ATP6V1C2
Identifiers
AliasesATP6V1C2, ATP6C2, VMA5, ATPase H+ transporting V1 subunit C2
External IDsOMIM: 618070 MGI: 1916025 HomoloGene: 15866 GeneCards: ATP6V1C2
Orthologs
SpeciesHumanMouse
Entrez

245973

68775

Ensembl

ENSG00000143882

ENSMUSG00000020566

UniProt

Q8NEY4

Q99L60

RefSeq (mRNA)

NM_001039362
NM_144583

NM_001159632
NM_133699

RefSeq (protein)

NP_001034451
NP_653184

NP_001153104
NP_598460

Location (UCSC)Chr 2: 10.72 – 10.79 MbChr 12: 17.33 – 17.38 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

V-type proton ATPase subunit C 2 is an enzyme that in humans is encoded by the ATP6V1C2 gene.[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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000143882 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020566 - 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. ↑ Smith AN, Borthwick KJ, Karet FE (Oct 2002). "Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis". Gene. 297 (1–2): 169–77. doi:10.1016/S0378-1119(02)00884-3. PMID 12384298.
  6. 1 2 "Entrez Gene: ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2".


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