ATP6V1C2

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ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2
Identifiers
Symbols ATP6V1C2 ; ATP6C2; VMA5
External IDs MGI1916025 HomoloGene15866 GeneCards: ATP6V1C2 Gene
EC number 3.6.3.14
Orthologs
Species Human Mouse
Entrez 245973 68775
Ensembl ENSG00000143882 ENSMUSG00000020566
UniProt Q8NEY4 Q99L60
RefSeq (mRNA) NM_001039362 NM_001159632
RefSeq (protein) NP_001034451 NP_001153104
Location (UCSC) Chr 2:
10.86 – 10.93 Mb
Chr 12:
17.28 – 17.33 Mb
PubMed search [1] [2]

V-type proton ATPase subunit C 2 is an enzyme that in humans is encoded by the ATP6V1C2 gene.[1][2]

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.[2]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2".