Gene
atp6v0a1b
- ID
- ZDB-GENE-050522-215
- Name
- ATPase H+ transporting V0 subunit a1b
- Symbol
- atp6v0a1b Nomenclature History
- Previous Names
-
- wu:fj37e01
- zgc:112214 (1)
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable ATPase binding activity. Acts upstream of or within cellular response to xenobiotic stimulus. Predicted to be located in membrane. Predicted to be part of vacuolar proton-transporting V-type ATPase complex. Predicted to be active in plasma membrane. Is expressed in female organism. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy. Orthologous to human ATP6V0A1 (ATPase H+ transporting V0 subunit a1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- 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 |
|---|---|---|---|
| developmental and epileptic encephalopathy 104 | Alliance | Developmental and epileptic encephalopathy 104 | 619970 |
| Neurodevelopmental disorder with epilepsy and brain atrophy | 619971 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | ATPase, V0 complex, subunit 116kDa, eukaryotic | V-type ATPase, V0 complex, 116kDa subunit family |
|---|---|---|---|
|
UniProtKB:A0A8M3AYX3
|
868 | ||
|
UniProtKB:Q502H9
|
839 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
atp6v0a1b-201
(1)
|
Ensembl | 3,010 nt | ||
| ncRNA |
atp6v0a1b-002
(1)
|
Ensembl | 615 nt |
Interactions and Pathways
No data available
Plasmids
No data available