|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CD339
JAGGED
SCDO2
hJ1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Tetralogy_of_Fallot
gptkb:Alagille_syndrome
|
|
gptkbp:biologicalProcess
|
cell differentiation
embryonic development
vascular development
receptor binding
|
|
gptkbp:discoveredIn
|
1997
|
|
gptkbp:encodes
|
Jagged-1 protein
|
|
gptkbp:Entrez_Gene_ID
|
182
ENSG00000101384
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
gptkb:kidney
eye
heart
liver
|
|
gptkbp:fullName
|
gptkb:Jagged1
|
|
gptkbp:function
|
Notch signaling pathway ligand
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
6198
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
JAG1
|
|
gptkbp:interactsWith
|
gptkb:NOTCH3
gptkb:NOTCH1
gptkb:NOTCH2
gptkb:NOTCH4
|
|
gptkbp:length
|
1218 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 20
20p12.2
|
|
gptkbp:location
|
gptkb:cell_membrane
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
splice site
haploinsufficiency
|
|
gptkbp:OMIM
|
601920
|
|
gptkbp:orthologInMouse
|
Jag1
|
|
gptkbp:orthologInZebrafish
|
jag1a
jag1b
|
|
gptkbp:pathway
|
gptkb:Notch_signaling_pathway
angiogenesis
cell fate determination
organ development
|
|
gptkbp:postTranslationalModification
|
phosphorylation
glycosylation
|
|
gptkbp:proteinFamily
|
Notch ligand family
Jagged family
|
|
gptkbp:UniProtID
|
gptkb:P78504
|
|
gptkbp:bfsParent
|
gptkb:Notch_signaling_pathway
gptkb:human_NOTCH1_gene
gptkb:NOTCH1
|
|
gptkbp:bfsLayer
|
7
|