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
- Involved in central nervous system neuron axonogenesis. Predicted to be located in membrane. Predicted to be active in intracellular membrane-bounded organelle. Is expressed in central nervous system. Used to study hereditary spastic paraplegia 52. 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