ATP6V1H

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]

Full Name

ATPase H+ Transporting V1 Subunit H

Function

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.

Biological Process

Cellular response to amino acid starvation Source: Reactome
Endocytosis Source: UniProtKB
Insulin receptor signaling pathway Source: Reactome
Ion transmembrane transport Source: Reactome
Phagosome acidification Source: Reactome
Proton transmembrane transport Source: UniProtKB
Regulation of defense response to virus by virus Source: Reactome
Regulation of macroautophagy Source: ParkinsonsUK-UCL
Transferrin transport Source: Reactome
Vacuolar acidification Source: UniProtKB

Cellular Location

Cytosol; Extracellular exosome; Lysosomal membrane; Plasma membrane; Vacuolar proton-transporting V-type ATPase, V1 domain