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
- 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 | 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
|
157 | |||||
|
UniProtKB:A0A2R8Q9P3
|
107 | |||||
|
UniProtKB:Q6NSP1
|
158 |
Interactions and Pathways
No data available
Plasmids
No data available