Gene
sacs
- ID
- ZDB-GENE-110411-146
- Name
- sacsin molecular chaperone
- Symbol
- sacs Nomenclature History
- Previous Names
-
- si:ch73-346g24.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have Hsp70 protein binding activity and chaperone binding activity. Human ortholog(s) of this gene implicated in Charlevoix-Saguenay spastic ataxia. Orthologous to human SACS (sacsin molecular chaperone).
- 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
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charlevoix-Saguenay spastic ataxia | Alliance | Spastic ataxia, Charlevoix-Saguenay type | 270550 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000626 | Ubiquitin-like domain |
| Domain | IPR001623 | DnaJ domain |
| Domain | IPR007842 | HEPN domain |
| Family | IPR052972 | Sacsin chaperone regulator |
| Homologous_superfamily | IPR029071 | Ubiquitin-like domain superfamily |
| Homologous_superfamily | IPR036869 | Chaperone J-domain superfamily |
| Homologous_superfamily | IPR036890 | Histidine kinase/HSP90-like ATPase superfamily |
Domain Details Per Protein
| Protein | Length | Chaperone J-domain superfamily | DnaJ domain | HEPN domain | Histidine kinase/HSP90-like ATPase superfamily | Sacsin chaperone regulator | Ubiquitin-like domain | Ubiquitin-like domain superfamily |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3APK9
|
4587 | |||||||
|
UniProtKB:E7FCI9
|
4578 |
Interactions and Pathways
No data available
Plasmids
No data available