Aliases for ATP6V0C Gene
External Ids for ATP6V0C Gene
Previous HGNC Symbols for ATP6V0C Gene
Previous GeneCards Identifiers for ATP6V0C Gene
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. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010]
GeneCards Summary for ATP6V0C Gene
ATP6V0C (ATPase, H+ Transporting, Lysosomal 16kDa, V0 Subunit C) is a Protein Coding gene. Diseases associated with ATP6V0C include progressive myoclonic epilepsy with dystonia and dravet syndrome. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include ubiquitin protein ligase binding and proton-transporting ATPase activity, rotational mechanism.
UniProtKB/Swiss-Prot for ATP6V0C Gene
Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells
H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.