InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: NOTCH3

Summary

InnateDB Gene

IDBG-34309.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NOTCH3

Gene Name

notch 3

Synonyms

CADASIL; CASIL; IMF2

Species

Homo sapiens

Ensembl Gene

ENSG00000074181

Encoded Proteins

IDBP-34311

notch 3

IDBP-765667

IDBP-760373

IDBP-763002

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 19:15159038-15200981

Strand

Reverse strand

Band

p13.12

Transcripts

ENST00000263388	ENSP00000263388
ENST00000601011	ENSP00000473138
ENST00000597756	ENSP00000468879
ENST00000600841
ENST00000595045
ENST00000595514	ENSP00000470661

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	25 [view]
Protein-Protein	22 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0019899	enzyme binding

Biological Process

GO:0006355	regulation of transcription, DNA-templated
GO:0006367	transcription initiation from RNA polymerase II promoter
GO:0007219	Notch signaling pathway
GO:0007220	Notch receptor processing
GO:0007275	multicellular organismal development
GO:0010467	gene expression
GO:0030154	cell differentiation
GO:0030900	forebrain development
GO:0045596	negative regulation of cell differentiation
GO:0045665	negative regulation of neuron differentiation
GO:0048661	positive regulation of smooth muscle cell proliferation
GO:0048663	neuron fate commitment
GO:0050793	regulation of developmental process
GO:0072104	glomerular capillary formation

Cellular Component

GO:0000139	Golgi membrane
GO:0005576	extracellular region
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0005789	endoplasmic reticulum membrane
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0015629	actin cytoskeleton
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0043235	receptor complex