Aliases for ATP6V0A4 Gene
- ATPase, H+ Transporting, Lysosomal V0 Subunit A4 2 3
- ATP6N1B 3 4 6
- 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
- ATP6N2 3 4
- RTADR 3 6
- RTA1C 3 6
- VPP2 3 6
- 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
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, Lysosomal V0 Subunit A4) is a Protein Coding gene. Diseases associated with ATP6V0A4 include renal tubular acidosis, distal, autosomal recessive and renal tubular acidosis, distal, ad. Among its related pathways are Signaling by GPCR and Insulin receptor signalling cascade. GO annotations related to this gene include ATPase binding and hydrogen ion transmembrane transporter activity. 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, endosomes, the Golgi apparatus, chromaffin granules and coated vesicles, as well as in the plasma membrane. H+-ATPase is a multisubunit complex composed of two domains. The V1 domain is responsible for ATP hydrolysis and the V0 domain is responsible for protein translocation. There are two main mechanisms of regulating H+-ATPase activity; recycling of H+-ATPase-containing vesicles to and from the plasma membrane and glucose-sensitive assembly/disassembly of the holoenzyme complex. These transporters play an important role in processes such as receptor-mediated endocytosis, protein degradation and coupled transport. They have a function in bone reabsorption and mutations in the A3 gene cause recessive osteopetrosis. Furthermore, H+-ATPases have been implicated in tumor metastasis and regulation of sperm motility and maturation.