Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeName |
gptkb:NOTCH3
gptkb:Neurogenic_locus_notch_homolog_protein_3 |
| gptkbp:associatedWith |
gptkb:CADASIL
|
| gptkbp:domain |
EGF-like repeats
ankyrin repeats |
| gptkbp:encodedBy |
gptkb:NOTCH3_gene
|
| gptkbp:Entrez_Gene_ID |
ENSG00000074181
|
| gptkbp:expressedIn |
vascular smooth muscle cells
|
| gptkbp:function |
cell signaling
regulation of vascular smooth muscle cell fate |
| gptkbp:gene |
gptkb:NOTCH3
|
| gptkbp:HGNC_ID |
7882
|
| https://www.w3.org/2000/01/rdf-schema#label |
Notch homolog 3
|
| gptkbp:location |
gptkb:chromosome_19p13.12
|
| gptkbp:molecularWeight |
~232 kDa
|
| gptkbp:mutationAssociatedWith |
causes CADASIL
|
| gptkbp:OMIM |
600276
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Notch3
|
| gptkbp:pathway |
gptkb:Notch_signaling_pathway
|
| gptkbp:proteinFamily |
gptkb:Notch_family
|
| gptkbp:RefSeq |
NP_000426.2
|
| gptkbp:subcellularLocation |
gptkb:cell_membrane
|
| gptkbp:UniProtID |
Q9UM47
|
| gptkbp:bfsParent |
gptkb:NOTCH3
|
| gptkbp:bfsLayer |
7
|