Aliases for ATP6V1H Gene
External Ids for ATP6V1H Gene
Previous GeneCards Identifiers for ATP6V1H Gene
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
GeneCards Summary for ATP6V1H Gene
ATP6V1H (ATPase, H+ Transporting, Lysosomal 50/57kDa, V1 Subunit H) is a Protein Coding gene. Diseases associated with ATP6V1H include hiv-1. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include binding and proton-transporting ATPase activity, rotational mechanism.
UniProtKB/Swiss-Prot for ATP6V1H Gene
Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates the ATPase activity of the enzyme and couples ATPase activity to proton flow. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). Involved in the endocytosis mediated by clathrin-coated pits, required for the formation of endosomes.
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.