Gene
sil1
- ID
- ZDB-GENE-160113-49
- Name
- SIL1 nucleotide exchange factor
- Symbol
- sil1 Nomenclature History
- Previous Names
-
- si:ch211-195b11.7 (1)
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable adenyl-nucleotide exchange factor activity. Acts upstream of or within eye development and skeletal muscle fiber development. Predicted to be located in endoplasmic reticulum lumen. Predicted to be active in endoplasmic reticulum. Used to study Marinesco-Sjogren syndrome. Human ortholog(s) of this gene implicated in primary cerebellar degeneration. Orthologous to human SIL1 (SIL1 nucleotide exchange factor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Kawahara et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Marinesco-Sjogren syndrome | Alliance | Marinesco-Sjogren syndrome | 248800 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Marinesco-Sjogren syndrome | AB + MO1-sil1 | standard conditions | Kawahara et al., 2016 |
| Marinesco-Sjogren syndrome | AB + MO2-sil1 | standard conditions | Kawahara et al., 2016 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Armadillo-like helical | Armadillo-type fold | Hsp70 Nucleotide Exchange Factors and Inhibitors | Nucleotide exchange factor Fes1 |
|---|---|---|---|---|---|---|
| UniProtKB:A0A0G2KDW7 | InterPro | 463 | ||||
| UniProtKB:A0A8M3AS71 | InterPro | 463 |
Interactions and Pathways
No data available
Plasmids
No data available