ATP6V1C2

ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2
Identifiers
Symbols	ATP6V1C2 ; ATP6C2; VMA5
External IDs	MGI: 1916025 HomoloGene: 15866 GeneCards: ATP6V1C2 Gene
EC number	3.6.3.14
Gene ontology Molecular function • protein binding • hydrogen-exporting ATPase activity, phosphorylative mechanism • protein dimerization activity Cellular component • lysosomal membrane • cytosol • proton-transporting V-type ATPase, V1 domain • extracellular exosome Biological process • cellular iron ion homeostasis • insulin receptor signaling pathway • ATP hydrolysis coupled proton transport • positive regulation of Wnt signaling pathway • transferrin transport • ion transmembrane transport • interaction with host • transmembrane transport • phagosome maturation Sources: Amigo / QuickGO
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: 10.72 – 10.79 Mb	Chr 12: 17.28 – 17.33 Mb
PubMed search

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

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. "Entrez Gene: ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2".