notch 3

Symbol

NOTCH3 (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
Notch3 Mus musculus
Notch3 Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA2817 Gene expression of NOTCH3 increases with age Molecular adipose tissue Human NOTCH3 —

GO Terms

GO IDGO TermGO Category
GO:0006355 regulation of transcription, DNA-dependent biological_process
GO:0007219 Notch signaling pathway biological_process
GO:0007220 Notch receptor processing biological_process
GO:0007275 multicellular organismal development biological_process
GO:0010467 gene expression biological_process
GO:0030900 forebrain development biological_process
GO:0042246 tissue regeneration biological_process
GO:0045665 negative regulation of neuron differentiation biological_process
GO:0048661 positive regulation of smooth muscle cell proliferation biological_process
GO:0048663 neuron fate commitment biological_process
GO:0050793 regulation of developmental process biological_process
GO:0072104 glomerular capillary formation biological_process
GO:0005576 extracellular region cellular_component
GO:0005634 nucleus cellular_component
GO:0005654 nucleoplasm cellular_component
GO:0005788 endoplasmic reticulum lumen cellular_component
GO:0005796 Golgi lumen cellular_component
GO:0005829 cytosol cellular_component
GO:0005886 plasma membrane cellular_component
GO:0016021 integral to membrane cellular_component
GO:0004872 receptor activity molecular_function
GO:0005509 calcium ion binding molecular_function
GO:0005515 protein binding molecular_function