Gene
atp6ap1a
- ID
- ZDB-GENE-090312-136
- Name
- ATPase H+ transporting accessory protein 1a
- Symbol
- atp6ap1a Nomenclature History
- Previous Names
-
- si:ch211-117k14.5
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have proton-transporting ATP synthase activity, rotational mechanism and proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in regulation of cellular pH. Predicted to localize to plasma membrane proton-transporting V-type ATPase complex. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human ATP6AP1 (ATPase H+ transporting accessory protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Gokey et al., 2015
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| immunodeficiency 47 | Alliance | Immunodeficiency 47 | 300972 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | V0 complex accessory subunit Ac45 | V-type proton ATPase subunit S1, luminal domain | V-type proton ATPase subunit S1/VOA1, transmembrane domain |
|---|---|---|---|---|
|
UniProtKB:F1R9A7
|
466 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
atp6ap1a-201
(1)
|
Havana | 3578 nt |
Interactions and Pathways
No data available
Plasmids
No data available