NOTCH3
NOTCH3 (notch receptor 3, also known as CASIL and CADASIL) is a single-pass cell-surface receptor of the NOTCH family. It binds membrane-bound ligands to regulate cell-fate determination, and mutations in the NOTCH3 gene cause the inherited small-vessel disease CADASIL. Browse Assay Genie's current range of NOTCH3 research reagents below, or read on for the biology behind the target.
NOTCH3 functions as a receptor for the membrane-bound ligands Jagged1, Jagged2 and Delta1, and through them regulates cell-fate determination. When a ligand activates the receptor, the notch intracellular domain (NICD) is released. NICD forms a transcriptional activator complex with RBPJ/RBPSUH and switches on genes of the enhancer of split locus. In this way NOTCH3 affects how differentiation, proliferation and apoptotic programmes are carried out.
The protein is recorded by UniProt as Neurogenic locus notch homolog protein 3 and belongs to the NOTCH family. Its subcellular locations are the cell membrane, where it acts as a receptor, and the nucleus, where the released intracellular domain acts on transcription. HGNC places the gene in the Notch receptors group, and also lists it among the microRNA protein coding host genes. Mouse and rat both have a Notch3 ortholog, which makes rodent models a common route for studying this receptor.
NOTCH3 is the third human homologue of the Drosophila melanogaster type I membrane protein notch. In Drosophila, interaction of notch with its cell-bound ligands, delta and serrate, establishes an intercellular signalling pathway that plays a key role in neural development. Human homologues of these ligands have been identified, but the precise interactions between them and the human notch homologues remain to be determined. Earlier names for the gene include notch 3 and Notch (Drosophila) homolog 3. Mutations in the NOTCH3 gene are the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which explains the CASIL and CADASIL aliases.
NOTCH3 is a ligand-activated receptor whose released intracellular domain partners with RBPJ to drive enhancer of split genes.
The receptor regulates cell-fate determination and influences how differentiation, proliferation and apoptotic programmes are implemented.
Mutations in NOTCH3 are the underlying cause of CADASIL, making the gene central to studies of this inherited arteriopathy.
Notch signalling through ligands such as delta and serrate plays a key role in neural development, as shown in Drosophila.
NOTCH3 is a receptor for the membrane-bound ligands Jagged1, Jagged2 and Delta1. After ligand activation, its released intracellular domain forms a complex with RBPJ/RBPSUH and activates enhancer of split genes, affecting differentiation, proliferation and apoptotic programmes.
The HGNC symbol is NOTCH3 and the approved name is notch receptor 3. Aliases are CASIL and CADASIL, and previous names include notch 3 and Notch (Drosophila) homolog 3. UniProt lists the protein as Neurogenic locus notch homolog protein 3.
Mutations in NOTCH3 cause CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Mouse and rat each have a Notch3 ortholog; check the datasheet of any product for its validated reactivity.
Other Notch receptors and related Notch-family targets with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q9UM47; product specifications from Assay Genie datasheets.