NOTCH3

NOTCH3
Identifiers
Aliases	NOTCH3, CADASIL, CASIL, IMF2, LMNS, CADASIL1, notch 3, notch receptor 3
External IDs	OMIM: 600276; MGI: 99460; GeneCards: NOTCH3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4ZLP, 5CZX, 5CZV
Gene location (Human) Chr. Chromosome 19 (human) Band 19p13.12 Start 15,159,038 bp End 15,200,995 bp
Gene location (Mouse) Chr. Chromosome 17 (mouse) Band 17 B1|17 17.37 cM Start 32,339,794 bp End 32,385,826 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in popliteal artery tibial arteries right coronary artery ventricular zone Descending thoracic aorta ascending aorta left coronary artery saphenous vein skin of leg stromal cell of endometrium Top expressed in external carotid artery corneal stroma internal carotid artery ankle joint molar vas deferens Gonadal ridge left lung lobe lactiferous gland carotid body More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding protein binding enzyme binding cadherin binding identical protein binding signaling receptor activity Cellular component integral component of membrane endoplasmic reticulum membrane membrane Golgi membrane receptor complex plasma membrane nucleoplasm extracellular region actin cytoskeleton nucleus cytosol cell surface Biological process Notch signaling pathway cell differentiation regulation of transcription, DNA-templated negative regulation of neuron differentiation negative regulation of cell differentiation glomerular capillary formation negative regulation of transcription by RNA polymerase II transcription, DNA-templated multicellular organism development artery morphogenesis forebrain development neuron fate commitment transcription initiation from RNA polymerase II promoter positive regulation of transcription by RNA polymerase II positive regulation of smooth muscle cell proliferation regulation of developmental process positive regulation of transcription of Notch receptor target Notch receptor processing, ligand-dependent negative regulation of Notch signaling pathway Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 4854 18131 Ensembl ENSG00000074181 ENSMUSG00000038146 UniProt Q9UM47 Q61982 RefSeq (mRNA) NM_000435 NM_008716 RefSeq (protein) NP_000426 NP_032742 Location (UCSC) Chr 19: 15.16 – 15.2 Mb Chr 17: 32.34 – 32.39 Mb PubMed search
Wikidata
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Neurogenic locus notch homolog protein 3 (Notch 3) is a protein that in humans is encoded by the NOTCH3 gene.