|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:NOTCH
hN1
AOVD2
Tan-1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Adams-Oliver_syndrome
gptkb:T-cell_acute_lymphoblastic_leukemia
aortic valve disease
|
|
gptkbp:biologicalProcess
|
cell differentiation
developmental processes
transmembrane receptor activity
|
|
gptkbp:cellularComponent
|
gptkb:plasma_membrane
|
|
gptkbp:discoveredBy
|
gptkb:Spyros_Artavanis-Tsakonas
|
|
gptkbp:encodes
|
gptkb:Neurogenic_locus_notch_homolog_protein_1
|
|
gptkbp:Entrez_Gene_ID
|
4851
ENSG00000148400
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:firstDescribed
|
1991
|
|
gptkbp:function
|
cell fate determination
transcription regulation
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
7881
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
NOTCH1
|
|
gptkbp:interactsWith
|
gptkb:DLL1
gptkb:FBXW7
gptkb:NUMB
gptkb:JAG1
gptkb:MAML1
|
|
gptkbp:length
|
2555 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_9
9q34.3
|
|
gptkbp:mutationAssociatedWith
|
loss of function
oncogenic activation
|
|
gptkbp:OMIM
|
190198
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Notch1
|
|
gptkbp:pathway
|
gptkb:Notch_signaling_pathway
|
|
gptkbp:proteinFamily
|
gptkb:Notch_family
|
|
gptkbp:UniProtID
|
P46531
|
|
gptkbp:bfsParent
|
gptkb:chromosome_9
|
|
gptkbp:bfsLayer
|
6
|