ATP6V1B1

Chr 2AR

ATPase H+ transporting V1 subunit B1

Also known as: ATP6B1, DRTA2, RTA1B, VATB, VMA2, VPP3

NCBI Gene: 525 ENSG00000116039 UniProt: P15313 OMIM: 192132

This gene encodes the B1 subunit of vacuolar H+-ATPase, a multisubunit enzyme that acidifies intracellular compartments and, in renal intercalated cells, secretes protons into urine for urinary acidification. Mutations cause autosomal recessive distal renal tubular acidosis with sensorineural hearing loss, a condition affecting kidney function and hearing. The gene shows minimal constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Distal renal tubular acidosis 2 with progressive sensorineural hearing lossMIM #267300

Clinical highlights

Gene-disease validity (ClinGen)

renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

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GeneReview available — ATP6V1B1