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NOTCH3

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]
Full Name
Notch 3
Function
Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination (PubMed:15350543).
Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity).
Biological Process
Artery morphogenesisIEA:Ensembl
Axon guidanceManual Assertion Based On ExperimentIBA:GO_Central
Forebrain developmentIEA:Ensembl
Glomerular capillary formationIEA:Ensembl
Negative regulation of neuron differentiationIEA:Ensembl
Negative regulation of transcription by RNA polymerase IIIEA:Ensembl
Neuron fate commitmentIEA:Ensembl
Notch signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central
Positive regulation of smooth muscle cell proliferationIEA:Ensembl
Positive regulation of transcription by RNA polymerase IIIEA:Ensembl
Cellular Location
Cell membrane
Notch 3 intracellular domain
Nucleus
Following proteolytical processing NICD is translocated to the nucleus.
Involvement in disease
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1):
A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke.
Myofibromatosis, infantile 2 (IMF2):
A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality.
Lateral meningocele syndrome (LMNS):
A very rare skeletal disorder with facial anomalies, hypotonia and neurologic dysfunction due to meningocele, a protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column. LMNS facial features include hypertelorism and telecanthus, high arched eyebrows, ptosis, mid-facial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance. Additional variable features are connective tissue abnormalities, aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis.
Topology
Extracellular: 40-1643
Helical: 1644-1664
Cytoplasmic: 1665-2321
PTM
Synthesized in the endoplasmic reticulum as an inactive form which is proteolytically cleaved by a furin-like convertase in the trans-Golgi network before it reaches the plasma membrane to yield an active, ligand-accessible form. Cleavage results in a C-terminal fragment N(TM) and a N-terminal fragment N(EC). Following ligand binding, it is cleaved by TNF-alpha converting enzyme (TACE) to yield a membrane-associated intermediate fragment called notch extracellular truncation (NEXT). This fragment is then cleaved by presenilin dependent gamma-secretase to release a notch-derived peptide containing the intracellular domain (NICD) from the membrane.
Phosphorylated.
Hydroxylated by HIF1AN.

Anti-NOTCH3 antibodies

+ Filters
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Target: NOTCH3
Host: Rat
Antibody Isotype: IgG2a
Specificity: Human
Clone: NIZ 8G5
Application*: WB
Target: NOTCH3
Host: Mouse
Specificity: Human, Mouse, Rat
Clone: F-4
Application*: WB, IP, IF, E
Target: NOTCH3
Host: Rat
Antibody Isotype: IgG2a
Specificity: Human
Clone: 8G5
Application*: WB
Target: NOTCH3
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human, Mouse
Clone: 4HCLC
Application*: WB
Target: NOTCH3
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: 4H5L17
Application*: WB
Target: NOTCH3
Host: Mouse
Specificity: Human
Clone: 2H6
Application*: E, WB
Target: NOTCH3
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 2E2
Application*: E, IF, WB
Target: NOTCH3
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBWJN-0658
Application*: F
Target: NOTCH3
Host: Hamster
Antibody Isotype: IgG
Specificity: Human
Clone: CBWJN-0609
Application*: F
Target: NOTCH3
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBWJN-0404
Application*: P, WB
Target: NOTCH3
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 3E2D9
Application*: WB, F, E, IH, IC, MC
Target: NOTCH3
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: 2E4D11
Application*: WB, F, E, IH, IC, MC
Target: NOTCH3
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 1G5
Application*: E, WB
Target: NOTCH3
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBWJN-0111
Application*: F
Target: NOTCH3
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBWJN-1010
Application*: F, MC
More Infomation
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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