|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:NOTCH
gptkb:TAN1
hN1
|
|
gptkbp:associatedWith
|
gptkb:Adams-Oliver_syndrome
gptkb:Aortic_valve_disease
gptkb:T-cell_acute_lymphoblastic_leukemia
|
|
gptkbp:conservedIn
|
vertebrates
|
|
gptkbp:discoveredIn
|
1991
|
|
gptkbp:encodes
|
gptkb:Neurogenic_locus_notch_homolog_protein_1
|
|
gptkbp:Entrez_Gene_ID
|
4851
ENSG00000148400
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:function
|
cell fate determination
transcription regulation
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
7881
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
human NOTCH1 gene
|
|
gptkbp:interactsWith
|
gptkb:DLL1
gptkb:JAG1
gptkb:MAML1
gptkb:RBPJ
|
|
gptkbp:length
|
34 exons
|
|
gptkbp:locatedOnChromosome
|
chromosome 9q34.3
|
|
gptkbp:mutationAssociatedWith
|
oncogenic
nonsense
missense
frameshift
splice site
|
|
gptkbp:OMIM
|
190198
|
|
gptkbp:orthologInMouse
|
gptkb:Notch1
|
|
gptkbp:pathway
|
gptkb:Notch_signaling_pathway
|
|
gptkbp:proteinFamily
|
transmembrane domain
EGF-like repeats
PEST domain
RAM domain
ankyrin repeats
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
apoptosis
cell differentiation
proliferation
|
|
gptkbp:relatedTo
|
gptkb:Notch_family
|
|
gptkbp:reviewedBy
|
gptkb:UniProtKB/Swiss-Prot
gptkb:RefSeq
|
|
gptkbp:symbol
|
gptkb:NOTCH1
|
|
gptkbp:UniProtID
|
P46531
|
|
gptkbp:bfsParent
|
gptkb:Notch_gene
|
|
gptkbp:bfsLayer
|
6
|