ATP6V0A4

ATP6V0A4 is 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,

Full Name

ATPase H+ Transporting V0 Subunit A4

Function

Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney.

Biological Process

Excretion Source: HGNC-UCL
Insulin receptor signaling pathway Source: Reactome
Ion transmembrane transport Source: Reactome
Ossification Source: HGNC-UCL
Phagosome acidification Source: Reactome
Proton transmembrane transport Source: HGNC-UCL
Regulation of pH Source: HGNC-UCL
Sensory perception of sound Source: HGNC-UCL
Transferrin transport Source: Reactome
Vacuolar acidification Source: GO_Central

Cellular Location

Apical cell membrane. Present at high density almost exclusively on the apical surface of alpha-intercalated cells in the cortical collecting ducts of the distal nephron.

Involvement in disease

Renal tubular acidosis, distal, autosomal recessive (RTADR): 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.

Topology

Cytoplasmic: 1-390 aa
Helical: 391-409 aa
Vacuolar: 410-411 aa
Helical: 412-428 aa
Cytoplasmic: 429-443 aa
Helical: 444-473 aa
Vacuolar: 474-538 aa
Helical: 539-558 aa
Cytoplasmic: 559-576 aa
Helical: 577-597 aa
Vacuolar: 598-642 aa
Helical: 643-662 aa
Cytoplasmic: 663-727 aa
Helical: 728-752 aa
Vacuolar: 753-773 aa
Helical: 774-812 aa
Cytoplasmic: 813-840 aa