ATP6V0A4
Function
Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Involved in normal vectorial acid transport into the urine by the kidney (PubMed:10973252, PubMed:12414817).
Involvement in disease
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
DRTA3
An autosomal recessive disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the V-ATPase 116 kDa subunit family.
Tissue Specificity
Expressed in adult and fetal kidney. Found in the inner ear.
Cellular localization
- Apical cell membrane
- Multi-pass membrane protein
- Basolateral cell membrane
- Multi-pass membrane protein
- Localizes to the apical surface of alpha-intercalated cells in the cortical collecting ducts of the distal nephron (PubMed:10973252). Localizes to the basolateral surface of beta-intercalated cells in the cortical collecting ducts of the distal nephron (By similarity).
Alternative names
ATP6N1B, ATP6N2, ATP6V0A4, V-type proton ATPase 116 kDa subunit a 4, V-ATPase 116 kDa isoform a 4, Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4, Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform