Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
intellectual disability
SETBP1 disorder Schinzel-Giedion syndrome |
| gptkbp:discoveredBy |
Minakuchi et al.
|
| gptkbp:discoveredIn |
2001
|
| gptkbp:encodes |
SETBP1 protein
|
| gptkbp:Entrez_Gene_ID |
26040
ENSG00000119335 |
| gptkbp:expressedIn |
gptkb:kidney
brain heart liver |
| gptkbp:fullName |
SET binding protein 1
|
| gptkbp:function |
DNA binding
transcriptional regulation |
| gptkbp:HGNC_ID |
HGNC:10777
|
| https://www.w3.org/2000/01/rdf-schema#label |
SETBP1
|
| gptkbp:length |
1596 amino acids
|
| gptkbp:locatedOnChromosome |
18q12.3
|
| gptkbp:mutationAssociatedWith |
epilepsy
developmental delay craniofacial abnormalities speech impairment |
| gptkbp:OMIM |
611060
|
| gptkbp:orthologInMouse |
Setbp1
|
| gptkbp:orthologInZebrafish |
setbp1a
setbp1b |
| gptkbp:proteinFamily |
SET binding domain
SKI homologous region |
| gptkbp:UniProtID |
Q9Y6X0
|
| gptkbp:bfsParent |
gptkb:chronic_myelomonocytic_leukemia
|
| gptkbp:bfsLayer |
7
|