|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:Neurogenic_locus_notch_homolog_protein_3
gptkb:Notch_homolog_3
|
|
gptkbp:associatedWith
|
gptkb:CADASIL
|
|
gptkbp:clinicalVariant
|
C174Y mutation
R90C mutation
|
|
gptkbp:component
|
gptkb:plasma_membrane
|
|
gptkbp:disorderAssociation
|
stroke
vascular dementia
|
|
gptkbp:disulfideBond
|
present
|
|
gptkbp:domain
|
EGF-like domain
Ankyrin repeat
|
|
gptkbp:ensemblId
|
ENSG00000074181
|
|
gptkbp:Entrez_Gene_ID
|
4854
|
|
gptkbp:function
|
cell surface receptor
transmembrane signaling receptor activity
involved in cell fate determination
|
|
gptkbp:gene
|
gptkb:NOTCH3
|
|
gptkbp:GOProcess
|
cell differentiation
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
NOTCH3 HUMAN
|
|
gptkbp:interactsWith
|
gptkb:DLL4
gptkb:JAG1
|
|
gptkbp:length
|
2321 amino acids
|
|
gptkbp:locatedOnChromosome
|
19p13.12
|
|
gptkbp:molecularWeight
|
244 kDa
|
|
gptkbp:mutationAssociatedWith
|
causes CADASIL
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
Notch3 (mouse)
|
|
gptkbp:pathway
|
gptkb:Notch_signaling_pathway
|
|
gptkbp:PDB
|
6YKE
|
|
gptkbp:phosphorylates
|
possible
|
|
gptkbp:postTranslationalModification
|
cleavage
glycosylation
|
|
gptkbp:proteinFamily
|
gptkb:Notch_family
|
|
gptkbp:RefSeq
|
NP_000426.2
|
|
gptkbp:reviewedBy
|
gptkb:UniProtKB/Swiss-Prot
yes
|
|
gptkbp:signalPeptide
|
present
|
|
gptkbp:subcellularLocation
|
gptkb:cell_membrane
nucleus (after cleavage)
|
|
gptkbp:tissue_specificity
|
vascular smooth muscle
|
|
gptkbp:transmembraneDomains
|
present
|
|
gptkbp:type
|
Notch signaling
|
|
gptkbp:UniProtID
|
Q9UM47
|
|
gptkbp:bfsParent
|
gptkb:NOTCH3_gene
|
|
gptkbp:bfsLayer
|
8
|