Aliases for ATP6V1A Gene
- ATPase H+ Transporting V1 Subunit A 2 3 5
- ATPase, H+ Transporting, Lysosomal 70kDa, V1 Subunit A 2 3
- V-Type Proton ATPase Catalytic Subunit A 3 4
- Vacuolar Proton Pump Subunit Alpha 3 4
- V-ATPase Subunit A 3 4
- ATP6V1A1 3 4
- ATP6A1 3 4
- VA68 2 3
- VPP2 3 4
- Vma1 2 3
- ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Alpha Polypeptide, 70kD, Isoform 1 2
- H+-Transporting ATPase Chain A, Vacuolar (VA68 Type) 3
- ATPase, H+ Transporting, Lysosomal, Subunit A1 3
External Ids for ATP6V1A Gene
Previous HGNC Symbols for ATP6V1A Gene
Previous GeneCards Identifiers for ATP6V1A 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 and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]
GeneCards Summary for ATP6V1A Gene
ATP6V1A (ATPase H+ Transporting V1 Subunit A) is a Protein Coding gene. Diseases associated with ATP6V1A include Developmental And Epileptic Encephalopathy 93 and Cutis Laxa, Autosomal Recessive, Type Iid. Among its related pathways are Insulin receptor recycling and Rheumatoid arthritis. Gene Ontology (GO) annotations related to this gene include proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP6V1B2.
UniProtKB/Swiss-Prot Summary for ATP6V1A Gene
Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar 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). May play a role in neurite development and synaptic connectivity (PubMed:29668857).
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.