Gene
ap4s1
- ID
- ZDB-GENE-030616-404
- Name
- adaptor related protein complex 4 subunit sigma 1
- Symbol
- ap4s1 Nomenclature History
- Previous Names
-
- si:dz115o7.1
- si:dz234g15.5
- zgc:136677
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to be involved in vesicle-mediated transport. Predicted to localize to intracellular membrane-bounded organelle. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 52. Orthologous to human AP4S1 (adaptor related protein complex 4 subunit sigma 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from D'Amore et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary spastic paraplegia 52 | Alliance | Spastic paraplegia 52, autosomal recessive | 614067 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| hereditary spastic paraplegia 52 | ap4s1zf3882/zf3882 (AB) | standard conditions | Li et al., 2023 |
| hereditary spastic paraplegia 52 | AB + MO2-ap4s1 | standard conditions | D'Amore et al., 2020 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Adaptor protein complex, sigma subunit | AP complex, mu/sigma subunit | Longin-like domain superfamily |
|---|---|---|---|---|
|
UniProtKB:Q29RE3
|
144 | |||
|
UniProtKB:Q78AM7
|
140 |
Interactions and Pathways
No data available
Plasmids
No data available