Gene
setbp1
- ID
- ZDB-GENE-060526-72
- Name
- SET binding protein 1
- Symbol
- setbp1 Nomenclature History
- Previous Names
-
- si:ch211-198e13.1
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to have DNA binding activity. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability 29. Orthologous to human SETBP1 (SET binding protein 1).
- 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 |
|---|---|---|---|
| autosomal dominant intellectual developmental disorder 29 | Alliance | Intellectual developmental disorder, autosomal dominant 29 | 616078 |
| Schinzel Giedion syndrome | Alliance | Schinzel-Giedion midface retraction syndrome | 269150 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017956 | AT hook, DNA-binding motif |
Domain Details Per Protein
| Protein | Length | AT hook, DNA-binding motif |
|---|---|---|
|
UniProtKB:B0R147
|
1438 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
setbp1-201
(1)
|
Ensembl | 4,966 nt | ||
| mRNA |
setbp1-202
(1)
|
Ensembl | 4,609 nt |
Interactions and Pathways
No data available
Plasmids
No data available