Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
gptkb:gene |
| gptkbp:alternativeName |
CCM1
Krev interaction trapped 1 |
| gptkbp:associatedWith |
cerebral cavernous malformations
|
| gptkbp:encodes |
Krev interaction trapped protein 1
|
| gptkbp:Entrez_Gene_ID |
889
|
| gptkbp:expressedIn |
endothelial cells
|
| gptkbp:function |
regulation of endothelial cell junctions
maintenance of vascular integrity |
| gptkbp:HGNC_ID |
HGNC:6346
|
| gptkbp:interactsWith |
gptkb:Rap1A
CCM2 HEG1 |
| gptkbp:locatedOnChromosome |
gptkb:chromosome_7
|
| gptkbp:mutationAssociatedWith |
cerebral cavernous malformation type 1
|
| gptkbp:OMIM |
604214
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
O00522
|
| gptkbp:bfsParent |
gptkb:RAP1B
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
KRIT1
|