Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:RIT
gptkb:Ras-like_without_CAAX_1 |
| gptkbp:associatedWith |
gptkb:Noonan_syndrome_8
gptkb:Noonan_syndrome |
| gptkbp:biologicalProcess |
small GTP-binding protein
|
| gptkbp:discoveredIn |
1996
|
| gptkbp:encodes |
gptkb:RIT1_protein
|
| gptkbp:Entrez_Gene_ID |
6016
|
| gptkbp:expressedIn |
various tissues
|
| gptkbp:function |
signal transduction
GTPase activity |
| gptkbp:HGNC_ID |
gptkb:HGNC:10023
|
| https://www.w3.org/2000/01/rdf-schema#label |
RIT1 gene
|
| gptkbp:length |
219 amino acids
|
| gptkbp:locatedOnChromosome |
chromosome 1
1q22 |
| gptkbp:mutationAssociatedWith |
developmental disorders
missense mutations |
| gptkbp:OMIM |
609591
|
| gptkbp:orthologInMouse |
gptkb:Rit1
|
| gptkbp:pathway |
gptkb:MAPK_signaling_pathway
gptkb:RAS/MAPK_pathway |
| gptkbp:proteinFamily |
gptkb:Ras_subfamily
|
| gptkbp:significance |
pathogenic variants cause Noonan syndrome
|
| gptkbp:UniProtID |
O95057
|
| gptkbp:bfsParent |
gptkb:RTK-RAS_pathway
|
| gptkbp:bfsLayer |
6
|