Aliases for ATP6V1E2 Gene
External Ids for ATP6V1E2 Gene
Previous HGNC Symbols for ATP6V1E2 Gene
Previous GeneCards Identifiers for ATP6V1E2 Gene
GeneCards Summary for ATP6V1E2 Gene
ATP6V1E2 (ATPase, H+ Transporting, Lysosomal 31kDa, V1 Subunit E2) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Insulin receptor signalling cascade. GO annotations related to this gene include proton-transporting ATPase activity, rotational mechanism and hydrogen-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1E1.
UniProtKB/Swiss-Prot for ATP6V1E2 Gene
Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. This isoform is essential for energy coupling involved in acidification of acrosome (By similarity).
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, endosomes, the Golgi apparatus, chromaffin granules and coated vesicles, as well as in the plasma membrane. H+-ATPase is a multisubunit complex composed of two domains. The V1 domain is responsible for ATP hydrolysis and the V0 domain is responsible for protein translocation. There are two main mechanisms of regulating H+-ATPase activity; recycling of H+-ATPase-containing vesicles to and from the plasma membrane and glucose-sensitive assembly/disassembly of the holoenzyme complex. These transporters play an important role in processes such as receptor-mediated endocytosis, protein degradation and coupled transport. They have a function in bone reabsorption and mutations in the A3 gene cause recessive osteopetrosis. Furthermore, H+-ATPases have been implicated in tumor metastasis and regulation of sperm motility and maturation.