Gene
atp6v1ba
- ID
- ZDB-GENE-030711-3
- Name
- ATPase, H+ transporting, lysosomal, V1 subunit B, member a
- Symbol
- atp6v1ba Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have ATP binding activity. Predicted to be involved in ATP metabolic process and proton transmembrane transport. Predicted to localize to proton-transporting V-type ATPase, V1 domain. Is expressed in several structures, including mucus secreting cell; nervous system; notochord; polster; and yolk syncytial layer. Human ortholog(s) of this gene implicated in autosomal dominant congenital deafness with onychodystrophy. Orthologous to human ATP6V1B2 (ATPase H+ transporting V1 subunit B2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 9 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb927 (15 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal dominant congenital deafness with onychodystrophy | Alliance | Deafness, congenital, with onychodystrophy, autosomal dominant | 124480 |
Zimmermann-Laband syndrome 2 | 616455 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Active_site | IPR020003 | ATPase, alpha/beta subunit, nucleotide-binding domain, active site |
Domain | IPR000194 | ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain |
Domain | IPR004100 | ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain |
Family | IPR005723 | ATPase, V1 complex, subunit B |
Family | IPR022879 | V-type ATP synthase regulatory subunit B/beta |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
Protein | Length | ATPase, alpha/beta subunit, nucleotide-binding domain, active site | ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain | ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain | ATPase, V1 complex, subunit B | P-loop containing nucleoside triphosphate hydrolase | V-type ATP synthase regulatory subunit B/beta |
---|---|---|---|---|---|---|---|
UniProtKB:Q8QHA7
|
506 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
atp6v1ba-201
(1)
|
Ensembl | 2,547 nt |
Interactions and Pathways
No data available
Plasmids
No data available