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 enable histone H3K4 methyltransferase activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus. Predicted to be active in nucleoplasm. Human ortholog(s) of this gene implicated in Schinzel Giedion syndrome and autosomal dominant intellectual developmental disorder 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