Gene
sbf1
- ID
- ZDB-GENE-040718-139
- Name
- SET binding factor 1
- Symbol
- sbf1 Nomenclature History
- Previous Names
-
- wu:fj45d12
- zgc:92634 (1)
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to have phosphatase regulator activity. Predicted to be involved in regulation of GTPase activity. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B3. Orthologous to human SBF1 (SET binding factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:92634 (1 image)
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 |
|---|---|---|---|
| Charcot-Marie-Tooth disease type 4B3 | Alliance | Charcot-Marie-Tooth disease, type 4B3 | 615284 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001194 | cDENN domain |
| Domain | IPR001849 | Pleckstrin homology domain |
| Domain | IPR004182 | GRAM domain |
| Domain | IPR005112 | dDENN domain |
| Domain | IPR005113 | uDENN domain |
| Domain | IPR010569 | Myotubularin-like, phosphatase domain |
| Domain | IPR022096 | SBF1/SBF2 domain |
| Domain | IPR037516 | Tripartite DENN domain |
| Family | IPR030564 | Myotubularin family |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR029021 | Protein-tyrosine phosphatase-like |
| Homologous_superfamily | IPR043153 | DENN domain, C-terminal lobe |
Domain Details Per Protein
| Protein | Length | cDENN domain | dDENN domain | DENN domain, C-terminal lobe | GRAM domain | Myotubularin family | Myotubularin-like, phosphatase domain | PH-like domain superfamily | Pleckstrin homology domain | Protein-tyrosine phosphatase-like | SBF1/SBF2 domain | Tripartite DENN domain | uDENN domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3ARB7
|
1926 | ||||||||||||
|
UniProtKB:A0A2R8PWA9
|
1936 | ||||||||||||
|
UniProtKB:A0A8M2BBQ3
|
1918 | ||||||||||||
|
UniProtKB:F1QFF3
|
1883 | ||||||||||||
|
UniProtKB:A0A8M2BBZ8
|
1908 | ||||||||||||
|
UniProtKB:A0A8M3B8V9
|
1911 | ||||||||||||
|
UniProtKB:Q1LXZ0
|
1849 |
Interactions and Pathways
No data available
Plasmids
No data available