Gene: NOTCH1

Alternate names for this Gene: AOS5|AOVD1|TAN1|hN1

Gene Summary: This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.3

Description of this Gene: notch receptor 1

Type of Gene: protein-coding

rs1057523819 in NOTCH1 gene and ADAMS-OLIVER SYNDROME 5 PMID 29924900 2018 Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

PMID 25132448 2014 Mutations in NOTCH1 cause Adams-Oliver syndrome.

PMID 25963545 2015 Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

rs3124998 in NOTCH1 gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs1057515422 in NOTCH1 gene and Aortic Valve Disease 1 PMID 16025100 2005 Mutations in NOTCH1 cause aortic valve disease.

PMID 27760138 2016 Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.

rs3124998 in NOTCH1 gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs13300218 in NOTCH1 gene and Crohn Disease PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs587777736 in NOTCH1 gene and Cutis marmorata PMID 25132448 2014 Mutations in NOTCH1 cause Adams-Oliver syndrome.

rs1554728529 in NOTCH1 gene and Dysmorphic features PMID 22245843 2012 Disruption of Notch1 induces vascular remodeling, intussusceptive angiogenesis, and angiosarcomas in livers of mice.

PMID 19610107 2009 The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.

PMID 21457232 2012 Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.

PMID 18593716 2008 NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.

PMID 16025100 2005 Mutations in NOTCH1 cause aortic valve disease.

PMID 10221902 1999 Notch signaling: cell fate control and signal integration in development.

PMID 19597493 2009 De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

PMID 17662764 2007 Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms.

PMID 22318994 2012 Human gene copy number spectra analysis in congenital heart malformations.

PMID 23613382 2013 Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome.

PMID 23578328 2013 Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.

PMID 10946361 2000 Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome.

PMID 16729972 2006 Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.

PMID 25914885 2019 Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.

PMID 25963545 2015 Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

PMID 24862819 2014 Severe phenotype in two half-sibs with Adams Oliver syndrome.

PMID 25132448 2014 Mutations in NOTCH1 cause Adams-Oliver syndrome.

PMID 28160419 2017 Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.

PMID 24273032 2014 Nodular regenerative hyperplasia in a patient with generalized essential telangiectasia: endotheliopathy as a causal factor.

rs587777736 in NOTCH1 gene and Fetal Growth Retardation PMID 25132448 2014 Mutations in NOTCH1 cause Adams-Oliver syndrome.

rs587777736 in NOTCH1 gene and Fetus Small for Gestational Age PMID 25132448 2014 Mutations in NOTCH1 cause Adams-Oliver syndrome.

rs3124596 in NOTCH1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs13300218 in NOTCH1 gene and Inflammatory Bowel Diseases PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs1348892740 in NOTCH1 gene and Multiple congenital anomalies PMID 19597493 2009 De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

PMID 22318994 2012 Human gene copy number spectra analysis in congenital heart malformations.

PMID 10946361 2000 Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome.

PMID 22245843 2012 Disruption of Notch1 induces vascular remodeling, intussusceptive angiogenesis, and angiosarcomas in livers of mice.

PMID 21457232 2012 Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.

PMID 19610107 2009 The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.

PMID 18593716 2008 NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.

PMID 17662764 2007 Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms.

PMID 16729972 2006 Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.

PMID 10221902 1999 Notch signaling: cell fate control and signal integration in development.

PMID 16025100 2005 Mutations in NOTCH1 cause aortic valve disease.

PMID 23578328 2013 Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.

PMID 24273032 2014 Nodular regenerative hyperplasia in a patient with generalized essential telangiectasia: endotheliopathy as a causal factor.

PMID 23613382 2013 Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome.

PMID 28160419 2017 Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.

PMID 24862819 2014 Severe phenotype in two half-sibs with Adams Oliver syndrome.

PMID 25132448 2014 Mutations in NOTCH1 cause Adams-Oliver syndrome.

PMID 25914885 2019 Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.

PMID 25963545 2015 Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

rs1554728529 in NOTCH1 gene and Muscle hypotonia PMID 19597493 2009 De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

PMID 10946361 2000 Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome.

PMID 16729972 2006 Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.

PMID 18593716 2008 NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.

PMID 22318994 2012 Human gene copy number spectra analysis in congenital heart malformations.

PMID 21457232 2012 Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.

PMID 10221902 1999 Notch signaling: cell fate control and signal integration in development.

PMID 23578328 2013 Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.

PMID 16025100 2005 Mutations in NOTCH1 cause aortic valve disease.

PMID 19610107 2009 The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.

PMID 17662764 2007 Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms.

PMID 22245843 2012 Disruption of Notch1 induces vascular remodeling, intussusceptive angiogenesis, and angiosarcomas in livers of mice.

PMID 23613382 2013 Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome.

PMID 24273032 2014 Nodular regenerative hyperplasia in a patient with generalized essential telangiectasia: endotheliopathy as a causal factor.

PMID 25963545 2015 Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

PMID 24862819 2014 Severe phenotype in two half-sibs with Adams Oliver syndrome.

PMID 28160419 2017 Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.

PMID 25132448 2014 Mutations in NOTCH1 cause Adams-Oliver syndrome.

PMID 25914885 2019 Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.

rs11574906 in NOTCH1 gene and Psoriasis PMID 22482804 2012 Combined analysis of genome-wide association studies for Crohn disease and psoriasis identifies seven shared susceptibility loci.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs3124592 in NOTCH1 gene and RDW - Red blood cell distribution width result PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs3124592 in NOTCH1 gene and Red cell distribution width determination PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs774966208 in NOTCH1 gene and Tetralogy of Fallot PMID 19597493 2009 De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

PMID 27760138 2016 Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.

rs13300218 in NOTCH1 gene and Ulcerative Colitis PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.