|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:NOTCH
hN1
Tan1
|
|
gptkbp:associatedWith
|
gptkb:Adams-Oliver_syndrome
gptkb:Aortic_valve_disease
gptkb:T-cell_acute_lymphoblastic_leukemia
|
|
gptkbp:biologicalProcess
|
gptkb:Notch_signaling_pathway
transmembrane receptor activity
|
|
gptkbp:cleavage
|
gptkb:ADAM_metalloproteases
gptkb:gamma-secretase
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
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 including heart, brain, and hematopoietic cells
|
|
gptkbp:firstDescribed
|
1991
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:function
|
signal transduction
regulation of cell differentiation
cell fate determination
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
7881
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
NOTCH1 gene
|
|
gptkbp:interactsWith
|
gptkb:ADAM17
gptkb:DLL1
gptkb:PSEN1
gptkb:FBXW7
gptkb:NUMB
gptkb:JAG1
gptkb:MAML1
gptkb:RBPJ
ADAM10
|
|
gptkbp:length
|
34 exons
|
|
gptkbp:locatedOnChromosome
|
chromosome 9q34.3
|
|
gptkbp:mutationAssociatedWith
|
congenital heart defects
oncogenic activation
|
|
gptkbp:OMIM
|
190198
|
|
gptkbp:orthologInMouse
|
gptkb:Notch1
|
|
gptkbp:orthologInZebrafish
|
notch1a
notch1b
|
|
gptkbp:pathway
|
gptkb:Notch_signaling_pathway
gptkb:Hematopoietic_cell_lineage
Cardiac development
|
|
gptkbp:proteinFamily
|
gptkb:Notch_receptor_family
|
|
gptkbp:regulates
|
apoptosis
cell proliferation
stem cell maintenance
|
|
gptkbp:subcellularLocation
|
gptkb:cell_membrane
nucleus (after cleavage)
|
|
gptkbp:UniProtID
|
P46531
|
|
gptkbp:bfsParent
|
gptkb:Notch_protein
gptkb:Notch_receptor
|
|
gptkbp:bfsLayer
|
7
|