|
gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CADASIL
gptkb:NOTCH3
|
|
gptkbp:associatedWith
|
gptkb:CADASIL
gptkb:migraine_with_aura
stroke
vascular dementia
|
|
gptkbp:biologicalProcess
|
nervous system development
receptor activity
arterial development
|
|
gptkbp:domain
|
transmembrane domain
EGF-like repeats
ankyrin repeats
|
|
gptkbp:encodes
|
gptkb:Neurogenic_locus_notch_homolog_protein_3
|
|
gptkbp:Entrez_Gene_ID
|
4854
ENSG00000074181
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:skeletal_muscle
gptkb:kidney
brain
heart
pancreas
arteries
vascular smooth muscle cells
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:function
|
signal transduction
cell fate determination
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
7882
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Notch3
|
|
gptkbp:interactsWith
|
gptkb:Delta-like_4
gptkb:Jagged1
|
|
gptkbp:length
|
2321 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_19
|
|
gptkbp:memberOf
|
gptkb:Notch_family
|
|
gptkbp:mutationAssociatedWith
|
gptkb:cerebral_autosomal_dominant_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy
missense
cysteine-altering
|
|
gptkbp:OMIM
|
600276
|
|
gptkbp:orthologInMouse
|
gptkb:Notch3
|
|
gptkbp:pathway
|
gptkb:Notch_signaling_pathway
|
|
gptkbp:regulates
|
arterial identity
vascular smooth muscle cell differentiation
|
|
gptkbp:signalPeptide
|
present
|
|
gptkbp:subcellularLocation
|
gptkb:cell_membrane
nucleus (after cleavage)
|
|
gptkbp:UniProtID
|
Q9UM47
|
|
gptkbp:bfsParent
|
gptkb:NOTCH3
gptkb:human_NOTCH3_gene
|
|
gptkbp:bfsLayer
|
7
|