Atp6v1b1 Gene Summary [Mouse]
Enables proton transmembrane transporter activity. Involved in regulation of pH and synaptic vesicle lumen acidification. Acts upstream of or within several processes, including renal sodium excretion; renal sodium ion transport; and renal water homeostasis. Located in several cellular components, including basolateral plasma membrane; lateral plasma membrane; and microvillus. Is expressed in several structures, including limb; lower jaw; metanephros; nervous system; and sensory organ. Used to study autosomal recessive nonsyndromic deafness and enlarged vestibular aqueduct. Human ortholog(s) of this gene implicated in renal tubular acidosis. Orthologous to human ATP6V1B1 (ATPase H+ transporting V1 subunit B1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Atp6v1b1 |
| Official Name | ATPase, H+ transporting, lysosomal V1 subunit B1 [Source:MGI Symbol;Acc:MGI:103285] |
| Ensembl ID | ENSMUSG00000006269 |
| Bio databases IDs | |
| Aliases | ATPase, H+ transporting, lysosomal V1 subunit B1 |
| Synonyms | ATP6B1, ATPASE H+ transporting lysosomal V1 subunit B, ATPase, H+ transporting, lysosomal V1 subunit B1, ATPase H+ transporting V1 subunit B1, D630003L15, D630030L16RIK, D630039P21Rik, DRTA2, H+ Atpase B1, H+-ATPase B1 subunit, RTA1B, Vacuolar H+-ATPase 56 kDa, VATB, VATPASEB1, V-ATPase V1-B1, VMA2, VPP3 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Atp6v1b1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- hydrogen ion transporter
- binding protein
- ATP synthase archaeal, B subunit
- ATP-synt_F1_V1_A1_AB_FliI_N
- ATP-synt_F1_V1_A1_AB_FliI_C
- ATP synthase, F1 beta subunit
- ATP synthase alpha/beta family, nucleotide-binding domain
- protein binding
- ATP synthase alpha/beta family, beta-barrel domain
- P-loop containing Nucleoside Triphosphate Hydrolases
- transporter
- V-type (H+)-ATPase V1, B subunit
Pathways
Biological processes and signaling networks where the Atp6v1b1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- renal tubular acidosis with progressive nerve deafness
- ovarian cancer
- colon epithelial cancer
- hereditary disorder
- primary ovarian cancer
- idiopathic scoliosis
- distal renal tubular acidosis
- acidosis
- colon adenocarcinoma
- distal renal tubular acidosis type 3 with or without sensorineural hearing loss
role in cell
- ossification by
- pH
- acidification in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Plasma Membrane
- Endoplasmic Reticulum
- cytosol
- apical membrane
- basolateral membrane
- lateral plasma membrane
- synaptic vesicles
- microvilli
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Atp6v1b1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- calcium ion homeostasis
- renal water homeostasis
- chloride ion homeostasis
- potassium ion homeostasis
- renal sodium ion transport
- prostaglandin metabolic process
- pH reduction
- vacuolar acidification
- olfactory behavior
- regulation of pH
- renal tubular secretion
- sensory perception of sound
- vacuolar proton-transporting V-type ATPase complex assembly
- ossification
- ATP metabolic process
- inner ear morphogenesis
- regulation of macroautophagy
- regulation of gene expression
- renal sodium excretion
- adult behavior
Cellular Component
Where in the cell the gene product is active
- vacuolar proton-transporting V-type ATPase, V1 domain
- lateral plasma membrane
- extracellular vesicular exosome
- cytoplasm
- microvillus
- vacuolar proton-transporting V-type ATPase complex
- cytosol
- basolateral plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- hydrogen ion transmembrane transporter activity
- proton-transporting ATPase activity, rotational mechanism