Aliases for ATP6V1H Gene
- ATPase H+ Transporting V1 Subunit H 2 3 5
- ATPase, H+ Transporting, Lysosomal 50/57kDa, V1 Subunit H 2 3
- Vacuolar Proton Pump Subunit SFD 3 4
- Vacuolar ATP Synthase Subunit H 2 3
- V-Type Proton ATPase Subunit H 3 4
- Vacuolar Proton Pump Subunit H 3 4
- V-ATPase 50/57 KDa Subunits 3 4
- Nef-Binding Protein 1 3 4
- Protein VMA13 Homolog 3 4
- V-ATPase Subunit H 3 4
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 V1 Subunit H) is a Protein Coding gene. Diseases associated with ATP6V1H include Sorsby Fundus Dystrophy. Among its related pathways are Insulin receptor recycling and Lysosome. Gene Ontology (GO) annotations related to this gene include binding and proton-transporting ATPase activity, rotational mechanism.
UniProtKB/Swiss-Prot Summary 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.