Gene
ap1s1
- ID
- ZDB-GENE-040426-1119
- Name
- adaptor related protein complex 1 subunit sigma 1
- Symbol
- ap1s1 Nomenclature History
- Previous Names
-
- zgc:56704
- zgc:85689
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable clathrin adaptor activity. Acts upstream of or within extracellular matrix organization and nervous system development. Located in perinuclear region of cytoplasm and plasma membrane. Is expressed in several structures, including hatching gland; nervous system; polster; pronephric duct; and solid lens vesicle. Human ortholog(s) of this gene implicated in MEDNIK syndrome. Orthologous to human AP1S1 (adaptor related protein complex 1 subunit sigma 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:56704 (10 images)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Montpetit et al., 2008
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| MEDNIK syndrome | Alliance | MEDNIK syndrome | 609313 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Adaptor protein complex, sigma subunit | AP-1 complex subunit sigma | AP complex, mu/sigma subunit | Clathrin adaptor complex, small chain | Longin-like domain superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:F1Q5Z2 | InterPro | 157 | |||||
| UniProtKB:A0A2R8Q9P3 | InterPro | 107 | |||||
| UniProtKB:Q6NSP1 | InterPro | 158 |
Interactions and Pathways
No data available
Plasmids
No data available