ATP6V1C2
| ATP6V1C2 | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
| Aliases | ATP6V1C2, ATP6C2, VMA5, ATPase H+ transporting V1 subunit C2 | |||||
| External IDs | MGI: 1916025 HomoloGene: 15866 GeneCards: ATP6V1C2 | |||||
| Orthologs | ||||||
| Species | Human | Mouse | ||||
| Entrez | ||||||
| Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 2: 10.72 – 10.79 Mb | Chr 12: 17.28 – 17.33 Mb | ||||
| PubMed search | [1] | [2] | ||||
| Wikidata | ||||||
| View/Edit Human | View/Edit Mouse |
V-type proton ATPase subunit C 2 is an enzyme that in humans is encoded by the ATP6V1C2 gene.[3][4]
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.[4]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ 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.
- 1 2 "Entrez Gene: ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2".