|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:C-CBL
gptkb:CBL2
gptkb:NSLL
gptkb:RNF55
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:juvenile_myelomonocytic_leukemia
gptkb:Noonan_syndrome-like_disorder
gptkb:acute_myeloid_leukemia
|
|
gptkbp:biologicalProcess
|
protein ubiquitination
ubiquitin-protein transferase activity
negative regulation of signal transduction
|
|
gptkbp:cellularComponent
|
gptkb:cytoplasm
gptkb:plasma_membrane
|
|
gptkbp:chromosomeArm
|
11q23.3
|
|
gptkbp:discoveredBy
|
gptkb:Hatem_Sabaawy
|
|
gptkbp:encodes
|
gptkb:CBL_protein
|
|
gptkbp:Entrez_Gene_ID
|
867
ENSG00000110395
|
|
gptkbp:expressedIn
|
various tissues
hematopoietic cells
|
|
gptkbp:firstDescribed
|
1989
|
|
gptkbp:function
|
signal transduction
E3 ubiquitin-protein ligase activity
|
|
gptkbp:HGNC_ID
|
1541
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CBL gene
|
|
gptkbp:interactsWith
|
gptkb:EGFR
gptkb:PIK3R1
gptkb:Src
gptkb:Vav1
gptkb:Fyn
gptkb:Crk
gptkb:Grb2
gptkb:ZAP-70
gptkb:Lyn
|
|
gptkbp:locatedOnChromosome
|
chromosome 11
|
|
gptkbp:mutationAssociatedWith
|
germline mutation
somatic mutation
|
|
gptkbp:OMIM
|
165360
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Cbl
|
|
gptkbp:proteinFamily
|
SH2 domain
RING finger domain
proline-rich region
|
|
gptkbp:regulates
|
apoptosis
cell differentiation
cell proliferation
tyrosine kinase signaling
|
|
gptkbp:UniProtID
|
P22681
|
|
gptkbp:bfsParent
|
gptkb:RTK-RAS_pathway
|
|
gptkbp:bfsLayer
|
6
|