Notch 3 (NOTCH3) Antibody – Hamster Monoclonal

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: Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. 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. Heterodimer of a C-terminal fragment N(TM) and a N- terminal fragment N(EC) which are probably linked by disulfide bonds. Interacts with MAML1, MAML2 and MAML3 which act as transcriptional coactivators for NOTCH3. Interacts with PSMA1. Interacts with HIF1AN. Ubiquitously expressed in fetal and adult tissues. Belongs to the NOTCH family.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 19p13.2-p13.1

Cellular Component: Golgi membrane; nucleoplasm; endoplasmic reticulum membrane; cytoplasm; plasma membrane; integral to membrane; extracellular region; cytosol; receptor complex; actin cytoskeleton

Molecular Function: protein binding; enzyme binding; calcium ion binding

Biological Process: transcription initiation from RNA polymerase II promoter; Notch signaling pathway; negative regulation of neuron differentiation; regulation of transcription, DNA-dependent; positive regulation of smooth muscle cell proliferation; forebrain development; neuron fate commitment; Notch receptor processing; gene expression

Disease: Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy; Lateral Meningocele Syndrome; Myofibromatosis, Infantile, 2