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
- Involved in extracellular matrix organization and nervous system development. Localizes to perinuclear region of cytoplasm and plasma membrane. Human ortholog(s) of this gene implicated in MEDNIK syndrome. Is expressed in several structures, including hatching gland; nervous system; polster; pronephric duct; and solid lens vesicle. 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