NP_000426.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
243,631 Da
NCBI Official Full Name
neurogenic locus notch homolog protein 3
NCBI Official Synonym Full Names
notch 3
NCBI Official Synonym Symbols
IMF2; LMNS; CASIL; CADASIL; CADASIL1 [Similar Products]
NCBI Protein Information
neurogenic locus notch homolog protein 3
UniProt Protein Name
Neurogenic locus notch homolog protein 3
UniProt Synonym Gene Names
UniProt Entry Name
NOTC3_HUMAN
NCBI Summary for NOTCH3
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]
UniProt Comments for NOTCH3
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: actin cytoskeleton; cytoplasm; cytosol; endoplasmic reticulum membrane; extracellular region; Golgi membrane; integral to membrane; nucleoplasm; plasma membrane; receptor complex
Molecular Function: calcium ion binding; enzyme binding; protein binding
Biological Process: artery morphogenesis; forebrain development; negative regulation of neuron differentiation; negative regulation of transcription from RNA polymerase II promoter; neuron fate commitment; Notch receptor processing; Notch signaling pathway; positive regulation of smooth muscle cell proliferation; positive regulation of transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter
Disease: Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy; Lateral Meningocele Syndrome; Myofibromatosis, Infantile, 2
Research Articles on NOTCH3
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Products associated with anti-NOTCH3 antibody
Pathways associated with anti-NOTCH3 antibody
Diseases associated with anti-NOTCH3 antibody
Organs/Tissues associated with anti-NOTCH3 antibody
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