ATP6V1G1


Description

The ATP6V1G1 (ATPase H+ transporting V1 subunit G1) is a protein-coding gene located on chromosome 9.

ATP6V1G1 encodes a component of vacuolar ATPase (V-ATPase), a multi-subunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for intracellular processes such 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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by ATP6V1G1 is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized.

ATP6V1G1 is a subunit of the V1 complex of vacuolar (H+)-ATPase (V-ATPase), a multi-subunit enzyme responsible for acidifying and maintaining the pH of intracellular compartments. In some cell types, it is targeted to the plasma membrane, where it acidifies the extracellular environment. In aerobic conditions, ATP6V1G1 is involved in intracellular iron homeostasis, triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, leading to HIF1A hydroxylation and subsequent proteasomal degradation.

ATP6V1G1 is also known as ATP6G, ATP6G1, ATP6GL, ATP6J, Vma10.

Associated Diseases



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