Gene
ap4e1
- ID
- ZDB-GENE-061221-3
- Name
- adaptor related protein complex 4 subunit epsilon 1
- Symbol
- ap4e1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Predicted to localize to AP-4 adaptor complex and Golgi apparatus. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 51 and stuttering. Orthologous to human AP4E1 (adaptor related protein complex 4 subunit epsilon 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
|---|---|---|---|
| hereditary spastic paraplegia 51 | Alliance | Spastic paraplegia 51, autosomal recessive | 613744 |
| stuttering | Alliance | Stuttering, familial persistent, 1 | 184450 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002553 | Clathrin/coatomer adaptor, adaptin-like, N-terminal |
| Domain | IPR028269 | AP-4 complex subunit epsilon-1, C-terminal |
| Family | IPR017109 | Adaptor protein complex AP-4, epsilon subunit |
| Family | IPR050840 | Adaptor Complexes Large Subunit |
| Homologous_superfamily | IPR011989 | Armadillo-like helical |
| Homologous_superfamily | IPR016024 | Armadillo-type fold |
Domain Details Per Protein
| Protein | Length | Adaptor Complexes Large Subunit | Adaptor protein complex AP-4, epsilon subunit | AP-4 complex subunit epsilon-1, C-terminal | Armadillo-like helical | Armadillo-type fold | Clathrin/coatomer adaptor, adaptin-like, N-terminal |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A0R4IQI7
|
1121 |
Interactions and Pathways
No data available
Plasmids
No data available