ATP6V1B1

Chr 2p13.3

ATPase H+ transporting V1 subunit B1

Aliases:: VATB, RTA1B, Vma2
MANE:: ENST00000234396.10

OMIM: 192132 ↗NCBI: 525 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ATP6V1B1 · P15313

v62025-08-01

Predicted Aligned Error matrix for ATP6V1B1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.8/ 100

Confident

513 residues

Confidence breakdown

Very high(≥ 90)68%
Confident(70–90)22%
Low(50–70)4%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Nephrocalcinosis or nephrolithiasis
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal tubulopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss
0.83
distal renal tubular acidosis
0.55
hereditary disease
0.50
nephrocalcinosis
0.41
autosomal recessive distal renal tubular acidosis
0.37
polydactyly, postaxial, type A1
0.34
Rare genetic deafness
0.34
renal tubular acidosis
0.29
gout
0.28
renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

V-type proton ATPase subunit B, kidney isoform

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)