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
- Involved in eye development and skeletal muscle fiber development. 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 | Length | Armadillo-like helical | Armadillo-type fold | Nucleotide exchange factor Fes1 |
|---|---|---|---|---|
|
UniProtKB:A0A0G2KDW7
|
463 | |||
|
UniProtKB:A0A8M3AS71
|
463 |
Interactions and Pathways
No data available
Plasmids
No data available