Aliases for ATP6V0A4 Gene
- ATPase H+ Transporting V0 Subunit A4 2 3 5
- ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Non-Catalytic Accessory Protein 1B 2 3
- Vacuolar Proton Translocating ATPase 116 KDa Subunit A Kidney Isoform 3 4
- ATPase, H+ Transporting, Lysosomal V0 Subunit A4 2 3
- ATP6N1B 3 4
- ATP6N2 3 4
- ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Non-Catalytic Accessory Protein 2 (38kD) 3
- H(+)-Transporting Two-Sector ATPase, Noncatalytic Accessory Protein 1B 3
- Vacuolar Proton Translocating ATPase 116 KDa Subunit A Isoform 4 4
- ATPase, H+ Transporting, Lysosomal V0 Subunit A Isoform 4 2
- V-Type Proton ATPase 116 KDa Subunit A Isoform 4 3
- Vacuolar Proton Pump 116 KDa Accessory Subunit 3
External Ids for ATP6V0A4 Gene
Previous HGNC Symbols for ATP6V0A4 Gene
Previous GeneCards Identifiers for ATP6V0A4 Gene
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent 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. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]
GeneCards Summary for ATP6V0A4 Gene
ATP6V0A4 (ATPase H+ Transporting V0 Subunit A4) is a Protein Coding gene. Diseases associated with ATP6V0A4 include Renal Tubular Acidosis, Distal, Autosomal Recessive and Renal Tubular Acidosis. Among its related pathways are PI3K-Akt signaling pathway and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ATPase binding and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP6V0A1.
UniProtKB/Swiss-Prot for ATP6V0A4 Gene
Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney.
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.