ATP6V1B1: V-ATPase B1 Subunit and Distal Renal Tubular Acidosis
Comprehensive gene card for ATP6V1B1, encoding the B1 subunit of vacuolar ATPase, with clinical relevance to distal renal tubular acidosis and sensorineural hearing loss.
Gene Information Card
| Symbol | ATP6V1B1 |
|---|---|
| Full Name | ATPase H+ Transporting V1 Subunit B1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 525 ncbi.nlm.nih.gov/gene/525 |
| Ensembl ID | ENSG00000116062 |
| UniProt ID | P15313 |
| OMIM ID | 192132 |
| HGNC ID | 857 |
| Aliases | VATB, VPP3, ATP6B1, VMA2 |
Description
ATP6V1B1 encodes the B1 subunit of the vacuolar ATPase (V-ATPase), a multi-subunit enzyme that mediates acidification of intracellular compartments and proton secretion across plasma membranes. In the kidney, V-ATPase in intercalated cells of the collecting duct is critical for urinary acidification. Mutations in ATP6V1B1 cause autosomal recessive distal renal tubular acidosis (dRTA) with sensorineural hearing loss.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Distal Renal Tubular Acidosis with Hearing Loss | Loss-of-function mutations impair V-ATPase proton secretion in renal intercalated cells and inner ear, leading to metabolic acidosis and deafness. | OMIM #267300; multiple reports in ClinVar and literature |
| Distal Renal Tubular Acidosis (isolated) | Biallelic ATP6V1B1 mutations reduce renal acid excretion, causing hyperchloremic metabolic acidosis, hypokalemia, and nephrocalcinosis. | ClinVar; NCBI GeneReviews |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Inner Ear (cochlea) | 8.2 | Medium |
| Pancreas | 6.1 | Medium |
| Liver | 4.3 | Low |
| Testis | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in kidney-derived line |
| HepG2 | 7.2 | Moderate expression |
| A549 | 5.1 | Low expression |
| K562 | 2.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.115C>T (p.Arg39*) | Nonsense | ~5% in dRTA cohorts | Loss of function; premature truncation |
| c.442G>A (p.Gly148Arg) | Missense | ~3% | Impaired V-ATPase assembly |
| c.1160T>C (p.Leu387Pro) | Missense | ~2% | Disrupts proton transport |
| c.1399C>T (p.Arg467*) | Nonsense | ~4% | Loss of function; nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Majority of pathogenic ATP6V1B1 mutations are loss-of-function (nonsense, frameshift, splice-site, missense) leading to reduced or absent V-ATPase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • proton transmembrane transport | • ATP hydrolysis coupled proton transport |
| • vacuolar proton-transporting V-type ATPase complex | • proton-transporting ATPase activity |
| • rotational mechanism | • plasma membrane proton-transporting V-type ATPase complex |
| • endosome | • lysosome |
Pathways
• V-ATPase-mediated acidification (Reactome: R-HSA-1222556)
• Renal tubular acid secretion (KEGG: hsa04966)
Protein Summary
The B1 subunit (55 kDa) is a non-catalytic component of the V1 domain of V-ATPase. It is essential for assembly and regulation of the proton pump. In the kidney, it localizes to the apical membrane of α-intercalated cells, enabling urinary acidification. In the inner ear, it is expressed in the stria vascularis and spiral ligament, contributing to endolymph pH homeostasis. Loss of function leads to distal renal tubular acidosis and sensorineural hearing loss.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP6V1B1 Knockout HEK293 Cell Line | EDJ-KQ1143 | Human | 525 | Details Get a Quote |
| ATP6V1B1 Knockout HeLa Cell Line | EDJ-KQ52694 | Human | 525 | Details Get a Quote |
| ATP6V1B1 Knockout A-549 Cell Line | EDJ-KQ61165 | Human | 525 | Details Get a Quote |
| ATP6V1B1 Knockout HCT 116 Cell Line | EDJ-KQ69653 | Human | 525 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
