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 Insulin receptor recycling and Signaling by GPCR. GO annotations related to this gene include ATPase binding and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is MIR5010.
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.