Aliases for ATP6V1G1 Gene
- ATPase H+ Transporting V1 Subunit G1 2 3 5
- ATP6G 2 3 4
- ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Member J 2 3
- ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G1 2 3
- V-Type Proton ATPase Subunit G 1 3 4
- Vacuolar Proton Pump Subunit G 1 3 4
- Vacuolar Proton Pump Subunit M16 3 4
- V-ATPase 13 KDa Subunit 1 3 4
- V-ATPase Subunit G 1 3 4
External Ids for ATP6V1G1 Gene
Previous HGNC Symbols for ATP6V1G1 Gene
Previous GeneCards Identifiers for ATP6V1G1 Gene
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes 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 this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq, Jul 2008]
GeneCards Summary for ATP6V1G1 Gene
ATP6V1G1 (ATPase H+ Transporting V1 Subunit G1) is a Protein Coding gene. Diseases associated with ATP6V1G1 include Pallister-Killian Syndrome and Autosomal Recessive Distal Renal Tubular Acidosis. Among its related pathways are Signaling by GPCR and Insulin receptor recycling. Gene Ontology (GO) annotations related to this gene include ATPase activity. An important paralog of this gene is ATP6V1G3.
UniProtKB/Swiss-Prot Summary for ATP6V1G1 Gene
Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633).
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.