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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]
NOTCH3 (Notch Receptor 3) is a Protein Coding gene. Diseases associated with NOTCH3 include Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 and Lateral Meningocele Syndrome. Among its related pathways are Neuroscience and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include calcium ion binding and enzyme binding. An important paralog of this gene is NOTCH2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IEA,IPI | 11006133 |
GO:0019899 | enzyme binding | IEA | -- |
GO:0038023 | signaling receptor activity | IMP | 15350543 |
GO:0042802 | identical protein binding | IPI | 26051713 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005576 | extracellular region | TAS | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Pre-NOTCH Expression and Processing | ||
2 | Notch Signaling Pathway (WikiPathways) | ||
3 | Diseases of glycosylation | ||
4 | Gene Expression |
.48
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5 | Signaling by NOTCH1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
GO:0007219 | Notch signaling pathway | TAS | -- |
GO:0007221 | positive regulation of transcription of Notch receptor target | TAS | -- |
Compound | Action | Cas Number |
---|---|---|
FLI-06 | 313967-18-9 | |
LY3039478 | Notch inhibitor, novel and potent | 1421438-81-4 |
PF-03084014 | γ-secretase inhibitor | 865773-15-5 |
Z-Ile-Leu-aldehyde | 161710-10-7 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: |
ExUns: | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||
SP2: | |||||||||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NOTCH3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NOTCH3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NOTCH3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Notch3 30 |
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Mouse (Mus musculus) |
Mammalia | Notch3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NOTCH3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NOTCH3 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NOTCH3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | notch2 30 |
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||
Zebrafish (Danio rerio) |
Actinopterygii | notch3 31 |
|
OneToOne | |
-- 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | N 31 |
|
OneToMany | |
SP1070 32 |
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CG15388 32 |
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Worm (Caenorhabditis elegans) |
Secernentea | W02C12.1 32 |
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F55H12.3 32 |
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Y69H2.2 32 |
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R05G6.9 32 |
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Y69H2.12 32 |
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Y69H2.11 32 |
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lin-12 32 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
661971 | Uncertain Significance: not provided | 15,189,399(-) | C/T | MISSENSE_VARIANT | |
691453 | Uncertain Significance: Pyloric stenosis; Esophageal atresia | 15,187,291(-) | C/A | MISSENSE_VARIANT | |
694718 | Pathogenic: Lateral meningocele syndrome | 15,161,001(-) | C/CG | FRAMESHIFT_VARIANT | |
697842 | Benign/Likely Benign: not specified; not provided | 15,184,354(-) | G/A | MISSENSE_VARIANT | |
697974 | Likely Benign: not provided | 15,186,898(-) | A/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3439n100 | CNV | gain | 25217958 |
dgv3440n100 | CNV | gain | 25217958 |
dgv3441n100 | CNV | gain | 25217958 |
dgv3442n100 | CNV | loss | 25217958 |
esv2718225 | CNV | deletion | 23290073 |
esv34154 | CNV | loss | 18971310 |
esv997404 | CNV | loss | 20482838 |
nsv1072330 | CNV | deletion | 25765185 |
nsv1144866 | CNV | deletion | 24896259 |
nsv521424 | CNV | loss | 19592680 |
nsv578717 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 |
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lateral meningocele syndrome |
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myofibromatosis, infantile, 2 |
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migraine with aura |
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migraine with or without aura 1 |
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