ATP6V1B1
Domain
The PDZ-binding motif mediates interactions with NHERF1 and SCL4A7.
Function
Non-catalytic subunit of the V1 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 (PubMed:16769747). 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 (PubMed:32001091). Essential for the proper assembly and activity of V-ATPase (PubMed:16769747). In renal intercalated cells, mediates secretion of protons (H+) into the urine thereby ensuring correct urinary acidification (PubMed:16769747). Required for optimal olfactory function by mediating the acidification of the nasal olfactory epithelium (By similarity).
Involvement in disease
Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
DRTA2
An autosomal recessive disease characterized by the association of renal distal tubular acidosis with sensorineural hearing loss. Distal renal tubular acidosis is 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 ATPase alpha/beta chains family.
Tissue Specificity
Kidney; localizes to early distal nephron, encompassing thick ascending limbs and distal convoluted tubules (at protein level) (PubMed:16769747, PubMed:29993276). Expressed in the cochlea and endolymphatic sac (PubMed:9916796).
Cellular localization
- Apical cell membrane
- Basolateral cell membrane
Alternative names
ATP6B1, VATB, VPP3, ATP6V1B1, V-ATPase subunit B 1, Endomembrane proton pump 58 kDa subunit, Vacuolar proton pump subunit B 1
Database links
swissprot:P15313 omim:192132 swissprot:P21281 entrezGene:525