ATP6V1B1

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle 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. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]

Full Name

ATPase H+ Transporting V1 Subunit B1

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).

Biological Process

Adult behavior Source: Ensembl
ATP metabolic process Source: Ensembl
Calcium ion homeostasis Source: UniProtKB
Cellular response to amino acid starvation Source: Reactome
Chloride ion homeostasis Source: Ensembl
Excretion Source: UniProtKB
Inner ear morphogenesis Source: UniProtKB
Insulin receptor signaling pathway Source: Reactome
Ion transmembrane transport Source: Reactome
Olfactory behavior Source: Ensembl
Ossification Source: HGNC-UCL
Phagosome acidification Source: Reactome
pH reduction Source: UniProtKB
Potassium ion homeostasis Source: Ensembl
Prostaglandin metabolic process Source: Ensembl
Proton transmembrane transport Source: HGNC-UCL
Regulation of gene expression Source: Ensembl
Regulation of macroautophagy Source: ParkinsonsUK-UCL
Regulation of pH Source: HGNC-UCL
Renal sodium excretion Source: Ensembl
Renal sodium ion transport Source: Ensembl
Renal water homeostasis Source: Ensembl
Sensory perception of sound Source: UniProtKB
Transferrin transport Source: Reactome

Cellular Location

Apical cell membrane; Basolateral cell membrane

Involvement in disease

Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D): 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.