|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CADASIL1
gptkb:NOTCH3_HUMAN
hN3
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:CADASIL
gptkb:NOTCH1
gptkb:NOTCH2
gptkb:NOTCH4
stroke
vascular dementia
|
|
gptkbp:biologicalProcess
|
neurogenesis
receptor activity
vascular development
cell fate commitment
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
gptkb:Alagille_et_al.
|
|
gptkbp:encodes
|
gptkb:Neurogenic_locus_notch_homolog_protein_3
|
|
gptkbp:Entrez_Gene_ID
|
4854
ENSG00000074181
|
|
gptkbp:expressedIn
|
vascular smooth muscle
|
|
gptkbp:firstDescribed
|
1996
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:function
|
cell signaling
arterial smooth muscle cell differentiation
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
7882
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
NOTCH3 gene
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:length
|
2321 amino acids
33,000 base pairs
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_19p13.12
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
insertion
missense
splice site
arteriopathy
|
|
gptkbp:numberOfExons
|
33
|
|
gptkbp:OMIM
|
600276
|
|
gptkbp:orthologInMouse
|
gptkb:Notch3
|
|
gptkbp:pathway
|
gptkb:Notch_signaling_pathway
|
|
gptkbp:proteinFamily
|
gptkb:Notch_family
intracellular domain
transmembrane domain
EGF-like repeats
ankyrin repeats
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:UniProtID
|
Q9UM47
|
|
gptkbp:bfsParent
|
gptkb:CADASIL
gptkb:Notch_protein
gptkb:Notch_receptor
|
|
gptkbp:bfsLayer
|
7
|