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NOTCH3 notch 3 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000435 Homo sapiens notch 3 (NOTCH3), mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005259924 PREDICTED: Homo sapiens notch 3 (NOTCH3), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Related Services

Gene Symbol NOTCH3
Entrez Gene ID 4854
Full Name notch 3
Synonyms CADASIL, CASIL, IMF2
General protein information
Preferred Names
neurogenic locus notch homolog protein 3
Names
neurogenic locus notch homolog protein 3
Notch homolog 3
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, Jul 2008].
Disorder

MIM: 600276

Cerebral arteriopathy with subcortical infarcts and

mRNA Protein Product Sequence Price Select
NM_000435, 134244284 NP_000426, 134244285 neurogenic locus notch homolog protein 3 precursor ORF Sequence $3500.00
XM_005259924, 578833288 XP_005259981, 530414885 neurogenic locus notch homolog protein 3 isoform X1 ORF Sequence $3500.00
KEGG
hsa04330Notch signaling pathway
hsa04320Dorso-ventral axis formation
hsa05206MicroRNAs in cancer
hsa04919Thyroid hormone signaling pathway
WikiPathways
WP61Delta-Notch Signaling Pathway
WP268Notch Signaling Pathway
WP2064Neural Crest Differentiation
Pathway Interaction Database
notch_pathwayNotch signaling pathway
Reactome
REACT_12627Generic Transcription Pathway
REACT_71Gene Expression
REACT_14835Notch-HLH transcription pathway
REACT_299Signaling by NOTCH
REACT_111102Signal Transduction
REACT_118744Pre-NOTCH Expression and Processing
REACT_118568Pre-NOTCH Transcription and Translation
REACT_118862Signaling by NOTCH3
REACT_118722Pre-NOTCH Processing in the Endoplasmic Reticulum
REACT_118798Pre-NOTCH Processing in Golgi
Homo sapiens (human)NOTCH3NP_000426.2
Pan troglodytes (chimpanzee)NOTCH3XP_003316212.1
Macaca mulatta (Rhesus monkey)NOTCH3XP_002808222.1
Canis lupus familiaris (dog)NOTCH3XP_005633258.1
Bos taurus (cattle)NOTCH3XP_003586294.1
Mus musculus (house mouse)Notch3NP_032742.1
Rattus norvegicus (Norway rat)Notch3NP_064472.2
Xenopus (Silurana) tropicalis (western clawed frog)notch2XP_002941531.2
Process
IDNameEvidence
GO:0006355regulation of transcription, DNA-templatedIEA
GO:0006367transcription initiation from RNA polymerase II promoterTAS
GO:0007219Notch signaling pathwayTAS
GO:0007220Notch receptor processingTAS
GO:0010467gene expressionTAS
GO:0030900forebrain developmentIEA
GO:0045665negative regulation of neuron differentiationIEA
GO:0048661positive regulation of smooth muscle cell proliferationIEA
GO:0048663neuron fate commitmentIEA
GO:0072104glomerular capillary formationIEA
Component
IDNameEvidence
GO:0000139Golgi membraneTAS
GO:0005576extracellular regionTAS
GO:0005634nucleusIDA
GO:0005654nucleoplasmTAS
GO:0005730nucleolusIDA
GO:0005737cytoplasmIDA
GO:0005789endoplasmic reticulum membraneTAS
GO:0005829cytosolTAS
GO:0005886plasma membraneTAS
GO:0015629actin cytoskeletonIDA
GO:0016021integral component of membraneIEA
GO:0043235receptor complexIDA
Function
IDNameEvidence
GO:0005509calcium ion bindingIEA
GO:0005515protein bindingIPI
GO:0019899enzyme bindingIEA
GeneCards NOTCH3
UniProt Q9UM47
Vega OTTHUMG00000183217
MIM 600276
Ensembl ENSG00000074181
HGNC 7883
HPRD 02607

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the NOTCH3 gene?

The NOTCH3 gene provides instructions for producing the Notch3 receptor protein. This receptor protein is located on the surface of the muscle cells that surround blood vessels (vascular smooth muscle cells). The Notch3 receptor protein is specific to arteries, which are blood vessels that carry blood from the heart to the rest of the body. The protein is not present in veins, which return blood to the heart. When certain molecules attach (bind) to Notch3 receptors, the receptors send signals to the nucleus of the cell. These signals then turn on (activate) particular genes within vascular smooth muscle cells. Notch3 receptors play a key role in the function and survival of vascular smooth muscle cells. These receptors are thought to be essential for the maintenance of healthy muscle cells in the brain's arteries.

Interactant

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