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NOTCH3 notch 3 [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_000435 Homo sapiens notch 3 (NOTCH3), mRNA. Full Length Quote
ORF Sequence $3134.70


Gene Symbol NOTCH3
Entrez Gene ID 4854
Full Name notch 3
Synonyms CADASIL, CASIL
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

19

19p13.2-p13.1
Summary This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq].
Disorder

MIM: 600276

Cerebral arteriopathy with subcortical infarcts and
mRNA NM_000435, 134244284
Protein NP_000426, 134244285
Product neurogenic locus notch homolog protein 3 precursor
RefSeq Status REVIEWED
KEGG
hsa04320Dorso-ventral axis formation
hsa04330Notch signaling pathway
Pathway Interaction Database
notch_pathwayNotch signaling pathway
WikiPathways
WP61Delta-Notch Signaling Pathway
Reactome
REACT_2001Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor
REACT_299Signaling by Notch
REACT_2155NICD trafficks to nucleus
REACT_2130Maturation of Notch precursor via proteolytic cleavage
REACT_2105Notch receptor binds with a ligand
REACT_12627Generic Transcription Pathway
REACT_14835Notch-HLH transcription pathway
REACT_691A third proteolytic cleavage releases NICD
REACT_671Transport of Notch receptor precursor to golgi
REACT_1359Mature Notch receptor trafficks to plasma membrane
REACT_71Gene Expression
Homo sapiens (human)NOTCH3NP_000426.2
Canis lupus familiaris (dog)NOTCH3XP_853041.1
Mus musculus (house mouse)Notch3NP_032742.1
Rattus norvegicus (Norway rat)Notch3NP_064472.2
Danio rerio (zebrafish)notch3NP_571624.2
Process
IDNameEvidence
GO:0006355regulation of transcription, DNA-dependentIEA
GO:0007219Notch signaling pathwayTAS
GO:0007220Notch receptor processingTAS
GO:0007275multicellular organismal developmentIEA
GO:0010467gene expressionTAS
GO:0030900forebrain developmentIEA
GO:0042246tissue regenerationIEA
GO:0045665negative regulation of neuron differentiationIEA
GO:0048663neuron fate commitmentIEA
GO:0050793regulation of developmental processIEA
Component
IDNameEvidence
GO:0005576extracellular regionTAS
GO:0005634nucleusIEA
GO:0005654nucleoplasmTAS
GO:0005788endoplasmic reticulum lumenTAS
GO:0005796Golgi lumenTAS
GO:0005829cytosolTAS
GO:0005886plasma membraneTAS
GO:0016021integral to membraneIEA
Function
IDNameEvidence
GO:0004872receptor activityIEA
GO:0005509calcium ion bindingIEA
GO:0005515protein bindingIPI
GeneCards NOTCH3
UniProt Q9UM47
MIM 600276
Ensembl ENSG00000074181
HGNC 7883
HPRD 02607

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