Gene: NOTCH1 (notch 1)  Homo sapiens Symbol: NOTCH1 Name: notch 1 Description: This gene encodes a member of the Notch family. Members of this Type 1 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 family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play multiple roles during development. [provided by RefSeq, Jul 2008] Type: protein-coding RefSeq Status: REVIEWED Also known as: hN1; neurogenic locus notch homolog protein 1; notch gene homolog 1, (drosophila); Notch homolog 1, translocation-associated; OTTHUMP00000022594; TAN1; translocation-associated notch protein TAN-1 Orthologs: Mus musculus : Notch1 (notch 1)  MGI Rattus norvegicus : Notch1 (notch 1) Latest Assembly: Human Genome Assembly GRCh37 Position: Map Chr Position Strand Source Human Alternate Assembly CHM1_1 9 139,425,469 - 139,477,649 - NCBI Human Genome Assembly HuRef 9 108,848,155 - 108,928,442 - NCBI Human Genome Assembly GRCh37 9 139,388,896 - 139,440,238 - NCBI Human Genome Assembly Build 36 9 138,508,717 - 138,560,059 - NCBI Human Cytogenetic Map 9 q34.3   NCBI Human Genome Assembly 9 136,664,733 - 136,716,075   NCBI Model Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19) Annotation    (Toggle Detail/Summary View) Disease Annotations Term Qualifier Evidence With Reference Notes Source Original Reference(s) AORTIC VALVE DISEASE 1   IEA   7240710   OMIM   Carcinoma, Pancreatic Ductal   ISS RGD:10998 2325323   RGD   Carcinoma, Pancreatic Ductal   ISS RGD:10998 2325324   RGD   Cholangiocarcinoma   IEP   2325330 protein:increased expression:cholangiocyte RGD   Endometrial Neoplasms   IEP   2299153 mRNA:increased expression:endometrium RGD   Heart Valve Diseases   IAGP   1580758   RGD   Leukemia, Promyelocytic, Acute   IEP   1580761   RGD   Leukemia-Lymphoma, Adult T-Cell   IAGP   1580760   RGD   Leukemia-Lymphoma, Adult T-Cell   IAGP   1580759   RGD   Liver Neoplasms, Experimental   ISS RGD:3187 2325310 protein:increased expression:liver RGD   Pancreatic Neoplasms Disease_progression ISS RGD:10998 2325328 protein:increased expression:pancreas RGD   Peritoneal Diseases   ISS RGD:3187 2325288 mRNA:increased expression: : RGD   Gene-Chemical Interaction Annotations Term Qualifier Evidence With Reference Notes Source Original Reference(s) (+)-catechin increases expression EXP   6480464 Catechin results in increased expression of NOTCH1 mRNA CTD PMID:15465739 17alpha-ethynylestradiol multiple interactions ISO RGD:10998 6480464 [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of NOTCH1 mRNA CTD PMID:17942748 17alpha-ethynylestradiol decreases expression ISO RGD:3187 6480464 Ethinyl Estradiol results in decreased expression of NOTCH1 mRNA CTD PMID:17557909 17beta-estradiol multiple interactions EXP   6480464 Estradiol promotes the reaction [NOTCH1 protein binds to CCND1 promoter] CTD PMID:19838210 17beta-estradiol affects expression ISO RGD:10998 6480464 Estradiol affects the expression of NOTCH1 mRNA CTD PMID:15598610 2,2',4,4',5,5'-hexachlorobiphenyl increases expression ISO RGD:3187 6480464 2,4,5,2',4',5'-hexachlorobiphenyl results in increased expression of NOTCH1 protein CTD PMID:21908764 2,3,7,8-tetrachlorodibenzodioxine decreases expression EXP   6480464 Tetrachlorodibenzodioxin results in decreased expression of NOTCH1 mRNA CTD PMID:19684285 2,3,7,8-tetrachlorodibenzodioxine affects expression ISO RGD:10998 6480464 Tetrachlorodibenzodioxin affects the expression of NOTCH1 mRNA CTD PMID:18343893 PMID:21570461 2,3,7,8-tetrachlorodibenzodioxine increases expression ISO RGD:10998 6480464 Tetrachlorodibenzodioxin results in increased expression of NOTCH1 mRNA CTD PMID:15328365 more ... 2,3,7,8-tetrachlorodibenzodioxine increases expression ISO RGD:10998 6480464 Tetrachlorodibenzodioxin results in increased expression of NOTCH1 mRNA CTD PMID:15800033 more ... 2,3,7,8-tetrachlorodibenzodioxine increases expression ISO RGD:10998 6480464 Tetrachlorodibenzodioxin results in increased expression of NOTCH1 mRNA CTD PMID:10886394 more ... 2,3,7,8-tetrachlorodibenzodioxine increases expression ISO RGD:10998 6480464 Tetrachlorodibenzodioxin results in increased expression of NOTCH1 mRNA CTD PMID:16611356 more ... 2,3,7,8-tetrachlorodibenzodioxine increases expression ISO RGD:10998 6480464 Tetrachlorodibenzodioxin results in increased expression of NOTCH1 mRNA CTD PMID:15328365 more ... 2,3,7,8-tetrachlorodibenzodioxine increases expression ISO RGD:10998 6480464 Tetrachlorodibenzodioxin results in increased expression of NOTCH1 mRNA CTD PMID:15800033 more ... 2,3,7,8-tetrachlorodibenzodioxine increases expression ISO RGD:10998 6480464 Tetrachlorodibenzodioxin results in increased expression of NOTCH1 mRNA CTD PMID:15800033 more ... 2,3,7,8-tetrachlorodibenzodioxine increases expression ISO RGD:10998 6480464 Tetrachlorodibenzodioxin results in increased expression of NOTCH1 mRNA CTD PMID:19684285 more ... 2,3,7,8-tetrachlorodibenzodioxine decreases expression ISO RGD:10998 6480464 Tetrachlorodibenzodioxin results in decreased expression of NOTCH1 mRNA CTD PMID:17586704 2,3,7,8-tetrachlorodibenzodioxine multiple interactions ISO RGD:10998 6480464 Tetrachlorodibenzodioxin inhibits the reaction [EGF protein results in increased expression of NOTCH1 mRNA] CTD PMID:15667827 2,3,7,8-tetrachlorodibenzodioxine multiple interactions ISO RGD:10998 6480464 [Tetrachlorodibenzodioxin binds to AHR protein] which results in increased expression of NOTCH1 mRNA CTD PMID:16214954 2,3,7,8-tetrachlorodibenzodioxine multiple interactions ISO RGD:10998 6480464 [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of NOTCH1 mRNA CTD PMID:17942748 2,3,7,8-tetrachlorodibenzodioxine affects expression ISO RGD:10998 6480464 Tetrachlorodibenzodioxin affects the expression of NOTCH1 mRNA CTD PMID:18343893 2,3,7,8-tetrachlorodibenzodioxine increases expression EXP   6480464 Tetrachlorodibenzodioxin results in increased expression of NOTCH1 mRNA CTD PMID:19684285 2-acetamidofluorene increases expression ISO RGD:10998 6480464 2-Acetylaminofluorene results in increased expression of NOTCH1 mRNA CTD PMID:21607683 3,3',4,4',5-pentachlorobiphenyl increases expression ISO RGD:10998 6480464 3,4,5,3',4'-pentachlorobiphenyl results in increased expression of NOTCH1 mRNA CTD PMID:18042819 PMID:20702594 3,3',4,4',5-pentachlorobiphenyl increases expression ISO RGD:10998 6480464 3,4,5,3',4'-pentachlorobiphenyl results in increased expression of NOTCH1 mRNA CTD PMID:20702594 PMID:18042819 4-hydroxynon-2-enal decreases expression ISO RGD:10998 6480464 4-hydroxy-2-nonenal results in decreased expression of NOTCH1 mRNA CTD PMID:19191707 5-aza-2'-deoxycytidine multiple interactions EXP   6480464 [decitabine co-treated with trichostatin A] results in decreased expression of NOTCH1 mRNA CTD PMID:17185465 aflatoxin B1 increases expression ISO RGD:10998 6480464 Aflatoxin B1 results in increased expression of NOTCH1 mRNA CTD PMID:19770486 all-trans-retinoic acid decreases expression EXP   6480464 Tretinoin results in decreased expression of NOTCH1 mRNA CTD PMID:21934132 all-trans-retinoic acid multiple interactions EXP   6480464 [Tretinoin co-treated with Phenylbutyrates co-treated with 1-hydroxy-2-oxo-3,3-bis(2-aminoethyl)-1-triazene] results in increased expression of NOTCH1 protein CTD PMID:23284745 ammonium chloride affects expression ISO RGD:3187 6480464 Ammonium Chloride affects the expression of NOTCH1 mRNA CTD PMID:16483693 arsenite(3-) multiple interactions EXP   6480464 tyrphostin AG 1478 inhibits the reaction [arsenite results in decreased expression of NOTCH1 protein modified form] CTD PMID:18633435 arsenite(3-) increases expression EXP   6480464 arsenite results in increased expression of NOTCH1 protein CTD PMID:22011395 arsenite(3-) decreases expression EXP   6480464 arsenite results in decreased expression of NOTCH1 protein modified form CTD PMID:18633435 baicalein increases activity EXP   6480464 baicalein results in increased activity of NOTCH1 protein CTD PMID:19160421 baicalein increases expression EXP   6480464 baicalein results in increased expression of NOTCH1 mRNA CTD PMID:19160421 baicalin increases activity EXP   6480464 baicalin results in increased activity of NOTCH1 protein CTD PMID:19160421 baicalin increases expression EXP   6480464 baicalin results in increased expression of NOTCH1 mRNA CTD PMID:19160421 benzo[a]pyrene increases expression ISO RGD:10998 6480464 Benzo(a)pyrene results in increased expression of NOTCH1 mRNA CTD PMID:19770486 benzo[a]pyrene increases expression ISO RGD:10998 6480464 Benzo(a)pyrene results in increased expression of NOTCH1 mRNA CTD PMID:19770486 PMID:22228805 bisphenol A decreases expression ISO RGD:10998 6480464 bisphenol A results in decreased expression of NOTCH1 mRNA CTD PMID:21932408 cadmium dichloride increases methylation ISO RGD:3187 6480464 Cadmium Chloride results in increased methylation of NOTCH1 promoter CTD PMID:22457795 calciol increases expression ISO RGD:10998 6480464 Cholecalciferol results in increased expression of NOTCH1 mRNA CTD PMID:17170073 chlorpyrifos decreases expression ISO RGD:3187 6480464 Chlorpyrifos results in decreased expression of NOTCH1 mRNA CTD PMID:18668222 chromium(6+) multiple interactions ISO RGD:10998 6480464 MAP2K7 protein promotes the reaction [chromium hexavalent ion results in increased expression of NOTCH1 mRNA] CTD PMID:19654923 chromium(6+) increases expression ISO RGD:10998 6480464 chromium hexavalent ion results in increased expression of NOTCH1 mRNA CTD PMID:19654923 curcumin decreases expression EXP   6480464 Curcumin results in decreased expression of NOTCH1 protein CTD PMID:18640131 curcumin multiple interactions EXP   6480464 [Curcumin co-treated with Isoflavones] results in decreased expression of NOTCH1 protein CTD PMID:18640131 curcumin decreases expression EXP   6480464 Curcumin results in decreased expression of NOTCH1 mRNA CTD PMID:17927689 DDT increases activity EXP   6480464 DDT results in increased activity of NOTCH1 protein CTD PMID:18791200 DDT multiple interactions EXP   6480464 MAP2K6 protein promotes the reaction [DDT results in increased activity of NOTCH1 protein] CTD PMID:18791200 dexamethasone decreases expression ISO RGD:3187 6480464 Dexamethasone results in decreased expression of NOTCH1 mRNA CTD PMID:14618091 dexamethasone multiple interactions ISO RGD:3187 6480464 Dexamethasone inhibits the reaction [Lipopolysaccharides results in increased expression of NOTCH1 mRNA] CTD PMID:18449946 diarsenic trioxide decreases expression EXP   6480464 arsenic trioxide results in decreased expression of NOTCH1 mRNA; more ... CTD PMID:22978106 diethylstilbestrol decreases expression ISO RGD:10998 6480464 Diethylstilbestrol results in decreased expression of NOTCH1 mRNA CTD PMID:21041162 dimethylarsinic acid affects expression ISO RGD:3187 6480464 Cacodylic Acid affects the expression of NOTCH1 mRNA CTD PMID:17720352 fluoxetine increases expression ISO RGD:3187 6480464 Fluoxetine results in increased expression of NOTCH1 protein; more ... CTD PMID:19801843 LY294002 multiple interactions ISO RGD:10998 6480464 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [Zinc affects the localization of NOTCH1 protein]; more ... CTD PMID:17513037 methylmercury chloride affects expression ISO RGD:3187 6480464 methylmercuric chloride affects the expression of NOTCH1 mRNA CTD PMID:20864626 N-nitrosodiethylamine increases expression ISO RGD:10998 6480464 Diethylnitrosamine results in increased expression of NOTCH1 mRNA CTD PMID:17854601 N-nitrosodiethylamine increases expression ISO RGD:10998 6480464 Diethylnitrosamine results in increased expression of NOTCH1 mRNA CTD PMID:17854601 PMID:21607683 N-nitrosodiethylamine multiple interactions ISO RGD:10998 6480464 RB1 protein inhibits the reaction [Diethylnitrosamine results in increased expression of NOTCH1 mRNA] CTD PMID:17854601 nicotinic acid increases expression ISO RGD:3187 6480464 Niacin results in increased expression of NOTCH1 protein CTD PMID:19223914 oxaliplatin affects response to substance EXP   6480464 NOTCH1 protein affects the susceptibility to oxaliplatin CTD PMID:19147571 oxaliplatin increases expression EXP   6480464 oxaliplatin results in increased expression of NOTCH1 protein modified form CTD PMID:19147571 oxaliplatin multiple interactions EXP   6480464 Sulfonamides inhibits the reaction [oxaliplatin results in increased expression of NOTCH1 protein modified form] CTD PMID:19147571 paracetamol increases expression EXP   6480464 Acetaminophen results in increased expression of NOTCH1 mRNA CTD PMID:22230336 phenethyl isothiocyanate multiple interactions EXP   6480464 N-(N-(3,5-difluorophenacetyl)alanyl)phenylglycine tert-butyl ester inhibits the reaction [phenethyl isothiocyanate results in increased cleavage of and results in increased activity of NOTCH1 protein] CTD PMID:22039516 phenethyl isothiocyanate increases expression EXP   6480464 phenethyl isothiocyanate results in increased expression of NOTCH1 mRNA CTD PMID:22039516 pirinixic acid increases expression ISO RGD:10998 6480464 pirinixic acid results in increased expression of NOTCH1 mRNA CTD PMID:18301758 propiconazole decreases expression ISO RGD:10998 6480464 propiconazole results in decreased expression of NOTCH1 mRNA CTD PMID:21278054 resveratrol multiple interactions EXP   6480464 MRK 003 inhibits the reaction [resveratrol results in increased activity of NOTCH1] CTD PMID:21743969 resveratrol decreases expression EXP   6480464 resveratrol results in decreased expression of NOTCH1 protein CTD PMID:17868649 resveratrol increases activity EXP   6480464 resveratrol results in increased activity of NOTCH1 CTD PMID:21743969 retinyl acetate increases expression ISO RGD:10998 6480464 retinol acetate results in increased expression of NOTCH1 mRNA CTD PMID:16772331 simvastatin increases cleavage ISO RGD:3187 6480464 Simvastatin results in increased cleavage of NOTCH1 protein CTD PMID:19109527 simvastatin increases expression ISO RGD:3187 6480464 Simvastatin results in increased expression of NOTCH1 mRNA CTD PMID:19109527 sulforaphane multiple interactions EXP   6480464 sulforafan inhibits the reaction [gemcitabine results in increased expression of NOTCH1 protein] CTD PMID:20940707 tamoxifen decreases expression ISO RGD:3187 6480464 Tamoxifen results in decreased expression of NOTCH1 protein CTD PMID:17343880 tamoxifen multiple interactions ISO RGD:3187 6480464 [Tamoxifen results in increased expression of MIR34A mRNA] which results in decreased expression of NOTCH1 protein CTD PMID:17343880 trans-resveratrol multiple interactions EXP   6480464 MRK 003 inhibits the reaction [resveratrol results in increased activity of NOTCH1] CTD PMID:21743969 trans-resveratrol decreases expression EXP   6480464 resveratrol results in decreased expression of NOTCH1 protein CTD PMID:17868649 trans-resveratrol increases activity EXP   6480464 resveratrol results in increased activity of NOTCH1 CTD PMID:21743969 trichostatin A multiple interactions EXP   6480464 [decitabine co-treated with trichostatin A] results in decreased expression of NOTCH1 mRNA CTD PMID:17185465 triphenylstannane decreases expression EXP   6480464 triphenyltin results in decreased expression of NOTCH1 mRNA CTD PMID:12788061 wortmannin multiple interactions ISO RGD:10998 6480464 wortmannin inhibits the reaction [Zinc results in decreased activity of NOTCH1 protein]; more ... CTD PMID:17513037 zalcitabine increases mutagenesis ISO RGD:10998 6480464 Zalcitabine results in increased mutagenesis of NOTCH1 gene CTD PMID:18798262 zinc atom multiple interactions ISO RGD:10998 6480464 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [Zinc affects the localization of NOTCH1 protein]; more ... CTD PMID:17513037 zinc atom affects localization ISO RGD:10998 6480464 Zinc affects the localization of NOTCH1 protein CTD PMID:17513037 zinc atom decreases activity ISO RGD:10998 6480464 Zinc results in decreased activity of NOTCH1 protein CTD PMID:17513037 zinc(0) multiple interactions ISO RGD:10998 6480464 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [Zinc affects the localization of NOTCH1 protein]; more ... CTD PMID:17513037 zinc(0) decreases activity ISO RGD:10998 6480464 Zinc results in decreased activity of NOTCH1 protein CTD PMID:17513037 zinc(0) affects localization ISO RGD:10998 6480464 Zinc affects the localization of NOTCH1 protein CTD PMID:17513037 Gene Ontology Annotations Biological Process Term Qualifier Evidence With Reference Notes Source Original Reference(s) anagen   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 aortic valve morphogenesis   IMP   2290271 PMID:16025100 BHF-UCL PMID:16025100 aortic valve morphogenesis   IMP   2290271 PMID:17662764 BHF-UCL PMID:17662764 arterial endothelial cell differentiation   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 atrioventricular node development   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 atrioventricular valve morphogenesis   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 auditory receptor cell fate commitment   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 axonogenesis   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 branching morphogenesis of an epithelial tube   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 cardiac atrium morphogenesis   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 cardiac chamber formation   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 cardiac epithelial to mesenchymal transition   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 cardiac left ventricle morphogenesis   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 cardiac muscle cell proliferation   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 cardiac muscle tissue morphogenesis   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 cardiac right atrium morphogenesis   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 cardiac right ventricle formation   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 cardiac septum morphogenesis   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 cardiac vascular smooth muscle cell development   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 cardiac ventricle morphogenesis   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 cell fate specification   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 cell migration involved in endocardial cushion formation   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 cellular response to follicle-stimulating hormone stimulus   IDA   2290271 PMID:20613903 BHF-UCL PMID:20613903 cellular response to vascular endothelial growth factor stimulus   IDA   2290271 PMID:20616313 UniProtKB PMID:20616313 collecting duct development   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 compartment pattern specification   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 coronary artery morphogenesis   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 coronary vein morphogenesis   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 determination of left/right symmetry   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 distal tubule development   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 embryonic hindlimb morphogenesis   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 endocardial cell differentiation   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 endocardial cushion morphogenesis   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 endocardium development   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 endocardium morphogenesis   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 endoderm development   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 epithelial to mesenchymal transition   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 epithelial to mesenchymal transition involved in endocardial cushion formation   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 forebrain development   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 foregut morphogenesis   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 gene expression   TAS   2290271 Reactome:REACT_71 Reactome Reactome:REACT_71 glial cell differentiation   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 glomerular mesangial cell development   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 growth involved in heart morphogenesis   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 hair follicle morphogenesis   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 heart development   IMP   2290271 PMID:21457232 DFLAT PMID:21457232 heart looping   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 heart trabecula morphogenesis   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 humoral immune response   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 immune response   NAS   2290271 PMID:1831692 UniProtKB PMID:1831692 in utero embryonic development   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 inflammatory response to antigenic stimulus   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 interleukin-4 secretion   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 keratinocyte differentiation   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 left/right axis specification   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 liver development   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 lung development   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 mesenchymal cell development   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 mitral valve formation   IMP   2290271 PMID:16025100 BHF-UCL PMID:16025100 negative regulation of anoikis   IMP   2290271 PMID:17984306 BHF-UCL PMID:17984306 negative regulation of BMP signaling pathway   ISS UniProtKB:A0MZ89 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 negative regulation of BMP signaling pathway   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 negative regulation of calcium ion-dependent exocytosis   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 negative regulation of canonical Wnt receptor signaling pathway   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 negative regulation of catalytic activity   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 negative regulation of cell migration involved in sprouting angiogenesis   IDA   2290271 PMID:20616313 UniProtKB PMID:20616313 negative regulation of cell proliferation   IDA   2290271 PMID:20616313 UniProtKB PMID:20616313 negative regulation of cell-substrate adhesion   IDA   2290271 PMID:16501043 BHF-UCL PMID:16501043 negative regulation of endothelial cell chemotaxis   IDA   2290271 PMID:20616313 UniProtKB PMID:20616313 negative regulation of glial cell proliferation   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 negative regulation of myoblast differentiation   IMP   2290271 PMID:10713164 UniProtKB PMID:10713164 negative regulation of myotube differentiation   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 negative regulation of neurogenesis   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 negative regulation of oligodendrocyte differentiation   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 negative regulation of ossification   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 negative regulation of osteoblast differentiation   ISS UniProtKB:A0MZ89 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 negative regulation of osteoblast differentiation   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 negative regulation of photoreceptor cell differentiation   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 negative regulation of pro-B cell differentiation   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 negative regulation of stem cell differentiation   IMP   2290271 PMID:19682396 UniProtKB PMID:19682396 negative regulation of transcription from RNA polymerase II promoter   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 negative regulation of transcription, DNA-dependent   ISS UniProtKB:A0MZ89 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 negative regulation of transcription, DNA-dependent   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 neural tube development   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 neuronal stem cell maintenance   IEP   2290271 PMID:19682396 UniProtKB PMID:19682396 Notch receptor processing   TAS   2290271 Reactome:REACT_2001 Reactome Reactome:REACT_2001 Notch receptor processing   TAS   2290271 Reactome:REACT_691 Reactome Reactome:REACT_691 Notch signaling involved in heart development   IMP   2290271 PMID:17662764 BHF-UCL PMID:17662764 Notch signaling involved in heart development   IMP   2290271 PMID:16025100 BHF-UCL PMID:16025100 Notch signaling pathway   TAS   2290271 Reactome:REACT_299 Reactome Reactome:REACT_299 Notch signaling pathway   TAS   2290271 Reactome:REACT_118859 Reactome Reactome:REACT_118859 Notch signaling pathway   IMP   2290271 PMID:19682396 UniProtKB PMID:19682396 Notch signaling pathway   TAS   2290271 PMID:10713164 UniProtKB PMID:10713164 Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 pericardium morphogenesis   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 positive regulation of apoptotic process   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 positive regulation of astrocyte differentiation   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 positive regulation of BMP signaling pathway   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 positive regulation of cardiac muscle cell proliferation   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 positive regulation of cell migration   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 positive regulation of cell proliferation   IDA   2290271 PMID:17849174 UniProtKB PMID:17849174 positive regulation of cell proliferation   IMP   2290271 PMID:20613903 BHF-UCL PMID:20613903 positive regulation of epithelial cell proliferation   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 positive regulation of epithelial to mesenchymal transition   IMP   2290271 PMID:17984306 BHF-UCL PMID:17984306 positive regulation of JAK-STAT cascade   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 positive regulation of keratinocyte differentiation   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 positive regulation of transcription from RNA polymerase II promoter   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 positive regulation of transcription from RNA polymerase II promoter   IDA   2290271 PMID:20616313 UniProtKB PMID:20616313 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 positive regulation of transcription of Notch receptor target   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 positive regulation of transcription, DNA-dependent   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 prostate gland epithelium morphogenesis   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 pulmonary valve morphogenesis   IMP   2290271 PMID:16025100 BHF-UCL PMID:16025100 regulation of epithelial cell proliferation involved in prostate gland development   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 regulation of extracellular matrix assembly   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 regulation of somitogenesis   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 regulation of transcription, DNA-dependent   TAS   2290271 PMID:10713164 UniProtKB PMID:10713164 response to muramyl dipeptide   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 somatic stem cell division   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 sprouting angiogenesis   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 transcription initiation from RNA polymerase II promoter   TAS   2290271 Reactome:REACT_12627 Reactome Reactome:REACT_12627 transcription initiation from RNA polymerase II promoter   TAS   2290271 Reactome:REACT_14835 Reactome Reactome:REACT_14835 tube formation   IMP   2290271 PMID:20616313 UniProtKB PMID:20616313 vasculogenesis involved in coronary vascular morphogenesis   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 venous endothelial cell differentiation   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 ventricular septum morphogenesis   IMP   2290271 PMID:16025100 BHF-UCL PMID:16025100 ventricular trabecula myocardium morphogenesis   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 Cellular Component Term Qualifier Evidence With Reference Notes Source Original Reference(s) cell surface   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 cytosol   TAS   2290271 Reactome:REACT_160171 Reactome Reactome:REACT_160171 endoplasmic reticulum membrane   TAS   2290271 Reactome:REACT_118745 Reactome Reactome:REACT_118745 extracellular region   TAS   2290271 Reactome:REACT_118679 Reactome Reactome:REACT_118679 extracellular region   TAS   2290271 Reactome:REACT_160283 Reactome Reactome:REACT_160283 extracellular region   TAS   2290271 Reactome:REACT_160310 Reactome Reactome:REACT_160310 extracellular region   TAS   2290271 Reactome:REACT_160280 Reactome Reactome:REACT_160280 extracellular region   TAS   2290271 Reactome:REACT_160234 Reactome Reactome:REACT_160234 extracellular region   TAS   2290271 Reactome:REACT_160273 Reactome Reactome:REACT_160273 extracellular region   TAS   2290271 Reactome:REACT_160218 Reactome Reactome:REACT_160218 extracellular region   TAS   2290271 Reactome:REACT_160213 Reactome Reactome:REACT_160213 extracellular region   TAS   2290271 Reactome:REACT_160212 Reactome Reactome:REACT_160212 extracellular region   TAS   2290271 Reactome:REACT_160198 Reactome Reactome:REACT_160198 extracellular region   TAS   2290271 Reactome:REACT_160196 Reactome Reactome:REACT_160196 extracellular region   TAS   2290271 Reactome:REACT_160191 Reactome Reactome:REACT_160191 extracellular region   TAS   2290271 Reactome:REACT_160167 Reactome Reactome:REACT_160167 extracellular region   TAS   2290271 Reactome:REACT_160195 Reactome Reactome:REACT_160195 extracellular region   TAS   2290271 Reactome:REACT_160170 Reactome Reactome:REACT_160170 extracellular region   TAS   2290271 Reactome:REACT_160157 Reactome Reactome:REACT_160157 extracellular region   TAS   2290271 Reactome:REACT_160144 Reactome Reactome:REACT_160144 extracellular region   TAS   2290271 Reactome:REACT_160115 Reactome Reactome:REACT_160115 extracellular region   TAS   2290271 Reactome:REACT_160142 Reactome Reactome:REACT_160142 extracellular region   TAS   2290271 Reactome:REACT_160110 Reactome Reactome:REACT_160110 extracellular region   TAS   2290271 Reactome:REACT_160097 Reactome Reactome:REACT_160097 extracellular region   TAS   2290271 Reactome:REACT_160096 Reactome Reactome:REACT_160096 extracellular region   TAS   2290271 Reactome:REACT_160087 Reactome Reactome:REACT_160087 extracellular region   TAS   2290271 Reactome:REACT_160085 Reactome Reactome:REACT_160085 extracellular region   TAS   2290271 Reactome:REACT_118747 Reactome Reactome:REACT_118747 extracellular region   TAS   2290271 Reactome:REACT_118746 Reactome Reactome:REACT_118746 extracellular region   TAS   2290271 Reactome:REACT_118597 Reactome Reactome:REACT_118597 Golgi membrane   TAS   2290271 Reactome:REACT_118708 Reactome Reactome:REACT_118708 Golgi membrane   TAS   2290271 Reactome:REACT_118833 Reactome Reactome:REACT_118833 Golgi membrane   TAS   2290271 Reactome:REACT_118767 Reactome Reactome:REACT_118767 Golgi membrane   TAS   2290271 Reactome:REACT_118747 Reactome Reactome:REACT_118747 integral to membrane   NAS   2290271 GO_REF:0000029 UniProtKB GO_REF:0000029 MAML1-RBP-Jkappa- ICN1 complex   IDA   2290271 PMID:16510869 UniProtKB PMID:16510869 nucleoplasm   TAS   2290271 Reactome:REACT_118683 Reactome Reactome:REACT_118683 nucleoplasm   TAS   2290271 Reactome:REACT_160209 Reactome Reactome:REACT_160209 nucleoplasm   TAS   2290271 Reactome:REACT_160309 Reactome Reactome:REACT_160309 nucleoplasm   TAS   2290271 Reactome:REACT_160108 Reactome Reactome:REACT_160108 nucleoplasm   TAS   2290271 Reactome:REACT_160249 Reactome Reactome:REACT_160249 nucleoplasm   TAS   2290271 Reactome:REACT_160192 Reactome Reactome:REACT_160192 nucleoplasm   TAS   2290271 Reactome:REACT_160126 Reactome Reactome:REACT_160126 nucleoplasm   TAS   2290271 Reactome:REACT_14814 Reactome Reactome:REACT_14814 nucleoplasm   TAS   2290271 Reactome:REACT_118684 Reactome Reactome:REACT_118684 nucleus   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 nucleus   TAS   2290271 PMID:10713164 UniProtKB PMID:10713164 plasma membrane   TAS   2290271 Reactome:REACT_118597 Reactome Reactome:REACT_118597 plasma membrane   TAS   2290271 Reactome:REACT_160310 Reactome Reactome:REACT_160310 plasma membrane   TAS   2290271 Reactome:REACT_160273 Reactome Reactome:REACT_160273 plasma membrane   TAS   2290271 Reactome:REACT_160283 Reactome Reactome:REACT_160283 plasma membrane   TAS   2290271 Reactome:REACT_160280 Reactome Reactome:REACT_160280 plasma membrane   TAS   2290271 Reactome:REACT_160234 Reactome Reactome:REACT_160234 plasma membrane   TAS   2290271 Reactome:REACT_160218 Reactome Reactome:REACT_160218 plasma membrane   TAS   2290271 Reactome:REACT_160213 Reactome Reactome:REACT_160213 plasma membrane   TAS   2290271 Reactome:REACT_160212 Reactome Reactome:REACT_160212 plasma membrane   TAS   2290271 Reactome:REACT_160196 Reactome Reactome:REACT_160196 plasma membrane   TAS   2290271 Reactome:REACT_160191 Reactome Reactome:REACT_160191 plasma membrane   TAS   2290271 Reactome:REACT_160198 Reactome Reactome:REACT_160198 plasma membrane   TAS   2290271 Reactome:REACT_160195 Reactome Reactome:REACT_160195 plasma membrane   TAS   2290271 Reactome:REACT_160171 Reactome Reactome:REACT_160171 plasma membrane   TAS   2290271 Reactome:REACT_160170 Reactome Reactome:REACT_160170 plasma membrane   TAS   2290271 Reactome:REACT_160157 Reactome Reactome:REACT_160157 plasma membrane   TAS   2290271 Reactome:REACT_160167 Reactome Reactome:REACT_160167 plasma membrane   TAS   2290271 Reactome:REACT_160144 Reactome Reactome:REACT_160144 plasma membrane   TAS   2290271 Reactome:REACT_160110 Reactome Reactome:REACT_160110 plasma membrane   TAS   2290271 Reactome:REACT_160142 Reactome Reactome:REACT_160142 plasma membrane   TAS   2290271 Reactome:REACT_160115 Reactome Reactome:REACT_160115 plasma membrane   TAS   2290271 Reactome:REACT_160096 Reactome Reactome:REACT_160096 plasma membrane   TAS   2290271 Reactome:REACT_160097 Reactome Reactome:REACT_160097 plasma membrane   TAS   2290271 Reactome:REACT_160087 Reactome Reactome:REACT_160087 plasma membrane   TAS   2290271 Reactome:REACT_160085 Reactome Reactome:REACT_160085 plasma membrane   TAS   2290271 Reactome:REACT_118747 Reactome Reactome:REACT_118747 plasma membrane   TAS   2290271 Reactome:REACT_118746 Reactome Reactome:REACT_118746 plasma membrane   TAS   2290271 Reactome:REACT_118708 Reactome Reactome:REACT_118708 plasma membrane   TAS   2290271 Reactome:REACT_118679 Reactome Reactome:REACT_118679 Molecular Function Term Qualifier Evidence With Reference Notes Source Original Reference(s) calcium ion binding   IEA InterPro:IPR001881|InterPro:IPR018097 2290271 GO_REF:0000002 InterPro GO_REF:0000002 chromatin DNA binding   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 core promoter binding   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 enzyme binding   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 enzyme inhibitor activity   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 protein binding   IPI UniProtKB:Q06330 2290271 PMID:10713164 IntAct PMID:10713164 protein binding   IPI UniProtKB:Q13526 2290271 PMID:19151708 IntAct PMID:19151708 protein binding   IPI UniProtKB:Q92585 2290271 PMID:16530044 UniProtKB PMID:16530044 protein binding   IPI UniProtKB:Q92585 2290271 PMID:16510869 UniProtKB PMID:16510869 protein binding   IPI UniProtKB:Q06330 2290271 PMID:16510869 UniProtKB PMID:16510869 protein binding   IPI UniProtKB:Q92585 2290271 PMID:11390662 UniProtKB PMID:11390662 protein binding   IPI UniProtKB:Q92585 2290271 PMID:11101851 UniProtKB PMID:11101851 protein binding   IPI UniProtKB:Q9Y618 2290271 PMID:10713164 UniProtKB PMID:10713164 protein binding   IPI UniProtKB:Q13573 2290271 PMID:10713164 IntAct PMID:10713164 receptor activity   IEA InterPro:IPR022362 2290271 GO_REF:0000002 InterPro GO_REF:0000002 RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription   ISS UniProtKB:Q01705 2290271 GO_REF:0000024 BHF-UCL GO_REF:0000024 sequence-specific DNA binding   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 sequence-specific DNA binding transcription factor activity   IEA Ensembl:ENSMUSP00000028288 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 Molecular Pathway Annotations Term Qualifier Evidence With Reference Notes Source Original Reference(s) altered Notch signaling pathway   ISS   724389   RGD   altered Notch signaling pathway involving the main players   IDA   1334450 Mutations in the dimerization and/or PEST domain have been associated with human acute T-lymphoblastic leukemias RGD   Notch signaling pathway   ISS   1358543   RGD   Notch signaling pathway   IEA RGD:737367 6907045   KEGG hsa:04330 Notch signaling pathway   EXP   6484113   PID PID:200015 Notch signaling pathway   ISS   724389   RGD   Notch signaling pathway   ISS RGD:3187 2306423   RGD   Notch signaling pathway   ISS RGD:3187 1334443   RGD   Notch signaling pathway   TAS   2302204   RGD   prion diseases pathway   IEA RGD:737367 6907045   KEGG hsa:05020 External Database Links KEGG Pathway Dorso-ventral axis formation Notch signaling pathway Prion diseases Pathway Interaction Database Notch signaling pathway (PID:200015) Notch-mediated HES/HEY network (PID:200228) Presenilin action in Notch and Wnt signaling (PID:200063) Validated transcriptional targets of deltaNp63 isoforms (PID:200186) Disease Annotations AORTIC VALVE DISEASE 1  (IEA) Carcinoma, Pancreatic Ductal  (ISS) Cholangiocarcinoma  (IEP) Endometrial Neoplasms  (IEP) Heart Valve Diseases  (IAGP) Leukemia, Promyelocytic, Acute  (IEP) Leukemia-Lymphoma, Adult T-Cell  (IAGP) Liver Neoplasms, Experimental  (ISS) Pancreatic Neoplasms  (ISS) Peritoneal Diseases  (ISS) Gene-Chemical Interaction Annotations (+)-catechin  (EXP) 17alpha-ethynylestradiol  (ISO) 17beta-estradiol  (EXP,ISO) 2,2',4,4',5,5'-hexachlorobiphenyl  (ISO) 2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO) 2-acetamidofluorene  (ISO) 3,3',4,4',5-pentachlorobiphenyl  (ISO) 4-hydroxynon-2-enal  (ISO) 5-aza-2'-deoxycytidine  (EXP) aflatoxin B1  (ISO) all-trans-retinoic acid  (EXP) ammonium chloride  (ISO) arsenite(3-)  (EXP) baicalein  (EXP) baicalin  (EXP) benzo[a]pyrene  (ISO) bisphenol A  (ISO) cadmium dichloride  (ISO) calciol  (ISO) chlorpyrifos  (ISO) chromium(6+)  (ISO) curcumin  (EXP) DDT  (EXP) dexamethasone  (ISO) diarsenic trioxide  (EXP) diethylstilbestrol  (ISO) dimethylarsinic acid  (ISO) fluoxetine  (ISO) LY294002  (ISO) methylmercury chloride  (ISO) N-nitrosodiethylamine  (ISO) nicotinic acid  (ISO) oxaliplatin  (EXP) paracetamol  (EXP) phenethyl isothiocyanate  (EXP) pirinixic acid  (ISO) propiconazole  (ISO) resveratrol  (EXP) retinyl acetate  (ISO) simvastatin  (ISO) sulforaphane  (EXP) tamoxifen  (ISO) trans-resveratrol  (EXP) trichostatin A  (EXP) triphenylstannane  (EXP) wortmannin  (ISO) zalcitabine  (ISO) zinc atom  (ISO) zinc(0)  (ISO) Gene Ontology Annotations Biological Process anagen  (IEA) aortic valve morphogenesis  (IMP) arterial endothelial cell differentiation  (ISS) atrioventricular node development  (IEA) atrioventricular valve morphogenesis  (ISS) auditory receptor cell fate commitment  (IEA) axonogenesis  (IEA) branching morphogenesis of an epithelial tube  (IEA) cardiac atrium morphogenesis  (ISS) cardiac chamber formation  (ISS) cardiac epithelial to mesenchymal transition  (ISS) cardiac left ventricle morphogenesis  (ISS) cardiac muscle cell proliferation  (IEA) cardiac muscle tissue morphogenesis  (ISS) cardiac right atrium morphogenesis  (ISS) cardiac right ventricle formation  (IEA) cardiac septum morphogenesis  (ISS) cardiac vascular smooth muscle cell development  (ISS) cardiac ventricle morphogenesis  (ISS) cell fate specification  (IEA) cell migration involved in endocardial cushion formation  (ISS) cellular response to follicle-stimulating hormone stimulus  (IDA) cellular response to vascular endothelial growth factor stimulus  (IDA) collecting duct development  (IEA) compartment pattern specification  (IEA) coronary artery morphogenesis  (ISS) coronary vein morphogenesis  (ISS) determination of left/right symmetry  (ISS) distal tubule development  (IEA) embryonic hindlimb morphogenesis  (IEA) endocardial cell differentiation  (ISS) endocardial cushion morphogenesis  (ISS) endocardium development  (ISS) endocardium morphogenesis  (ISS) endoderm development  (IEA) epithelial to mesenchymal transition  (ISS) epithelial to mesenchymal transition involved in endocardial cushion formation  (ISS) forebrain development  (IEA) foregut morphogenesis  (IEA) gene expression  (TAS) glial cell differentiation  (IEA) glomerular mesangial cell development  (IEA) growth involved in heart morphogenesis  (ISS) hair follicle morphogenesis  (IEA) heart development  (IMP) heart looping  (ISS) heart trabecula morphogenesis  (ISS) humoral immune response  (IEA) immune response  (NAS) in utero embryonic development  (IEA) inflammatory response to antigenic stimulus  (IEA) interleukin-4 secretion  (IEA) keratinocyte differentiation  (IEA) left/right axis specification  (IEA) liver development  (IEA) lung development  (IEA) mesenchymal cell development  (ISS) mitral valve formation  (IMP) negative regulation of anoikis  (IMP) negative regulation of BMP signaling pathway  (ISS) negative regulation of calcium ion-dependent exocytosis  (IEA) negative regulation of canonical Wnt receptor signaling pathway  (IEA) negative regulation of catalytic activity  (ISS) negative regulation of cell migration involved in sprouting angiogenesis  (IDA) negative regulation of cell proliferation  (IDA) negative regulation of cell-substrate adhesion  (IDA) negative regulation of endothelial cell chemotaxis  (IDA) negative regulation of glial cell proliferation  (ISS) negative regulation of myoblast differentiation  (IMP) negative regulation of myotube differentiation  (ISS) negative regulation of neurogenesis  (ISS) negative regulation of oligodendrocyte differentiation  (ISS) negative regulation of ossification  (ISS) negative regulation of osteoblast differentiation  (ISS) negative regulation of photoreceptor cell differentiation  (IEA) negative regulation of pro-B cell differentiation  (ISS) negative regulation of stem cell differentiation  (IMP) negative regulation of transcription from RNA polymerase II promoter  (ISS) negative regulation of transcription, DNA-dependent  (ISS) neural tube development  (IEA) neuronal stem cell maintenance  (IEP) Notch receptor processing  (TAS) Notch signaling involved in heart development  (IMP) Notch signaling pathway  (IMP,TAS) Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation  (IEA) pericardium morphogenesis  (ISS) positive regulation of apoptotic process  (IEA) positive regulation of astrocyte differentiation  (ISS) positive regulation of BMP signaling pathway  (ISS) positive regulation of cardiac muscle cell proliferation  (ISS) positive regulation of cell migration  (ISS) positive regulation of cell proliferation  (IDA,IMP) positive regulation of epithelial cell proliferation  (IEA) positive regulation of epithelial to mesenchymal transition  (IMP) positive regulation of JAK-STAT cascade  (ISS) positive regulation of keratinocyte differentiation  (IEA) positive regulation of transcription from RNA polymerase II promoter  (IDA,ISS) positive regulation of transcription from RNA polymerase II promoter in response to hypoxia  (ISS) positive regulation of transcription of Notch receptor target  (ISS) positive regulation of transcription, DNA-dependent  (ISS) prostate gland epithelium morphogenesis  (IEA) pulmonary valve morphogenesis  (IMP) regulation of epithelial cell proliferation involved in prostate gland development  (IEA) regulation of extracellular matrix assembly  (ISS) regulation of somitogenesis  (IEA) regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation  (ISS) regulation of transcription, DNA-dependent  (TAS) response to muramyl dipeptide  (IEA) secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development  (IEA) somatic stem cell division  (IEA) sprouting angiogenesis  (IEA) transcription initiation from RNA polymerase II promoter  (TAS) tube formation  (IMP) vasculogenesis involved in coronary vascular morphogenesis  (ISS) venous endothelial cell differentiation  (ISS) ventricular septum morphogenesis  (IMP) ventricular trabecula myocardium morphogenesis  (ISS) Cellular Component cell surface  (IEA) cytosol  (TAS) endoplasmic reticulum membrane  (TAS) extracellular region  (TAS) Golgi membrane  (TAS) integral to membrane  (NAS) MAML1-RBP-Jkappa- ICN1 complex  (IDA) nucleoplasm  (TAS) nucleus  (ISS,TAS) plasma membrane  (TAS) Molecular Function calcium ion binding  (IEA) chromatin DNA binding  (IEA) core promoter binding  (ISS) enzyme binding  (ISS) enzyme inhibitor activity  (ISS) protein binding  (IPI) receptor activity  (IEA) RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription  (ISS) sequence-specific DNA binding  (IEA) sequence-specific DNA binding transcription factor activity  (IEA) Molecular Pathway Annotations altered Notch signaling pathway  (ISS) altered Notch signaling pathway involving the main players  (IDA) Notch signaling pathway  (EXP,IEA,ISS,TAS) prion diseases pathway  (IEA) External Database Links KEGG Pathway Dorso-ventral axis formation Notch signaling pathway Prion diseases Pathway Interaction Database Notch signaling pathway (PID:200015) Notch-mediated HES/HEY network (PID:200228) Presenilin action in Notch and Wnt signaling (PID:200063) Validated transcriptional targets of deltaNp63 isoforms (PID:200186) References - curated 1. De La O JP, etal., Proc Natl Acad Sci U S A. 2008 Dec 2;105(48):18907-12. Epub 2008 Nov 21. 2. Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74. 3. Garg V, etal., Nature. 2005 Sep 8;437(7056):270-4. Epub 2005 Jul 17. 4. GOA_HUMAN data from the GO Consortium 5. Hanlon L, etal., Cancer Res. 2010 May 18. 6. Ishimura N, etal., Gastroenterology. 2005 May;128(5):1354-68. 7. Kimura K, etal., Cancer Sci. 2007 Feb;98(2):155-62. 8. Kohler C, etal., Hepatology 2004 Apr;39(4):1056-65. 9. Kubu CJ, etal., Dev Biol 2002 Apr 1;244(1):199-214. 10. Lin JT, etal., Adv Ther. 2003 Nov-Dec;20(6):337-43. 11. Malecki MJ, etal., Mol Cell Biol. 2006 Jun;26(12):4642-51. 12. Patten BA, etal., J Neurosci 2003 Jul 9;23(14):6132-40. 13. Pipeline to import KEGG annotations from KEGG into RGD Pathway Ontology 14. Pipeline to import Pathway Interaction Database annotations from NCI into RGD 15. RGD automated import pipeline for gene-chemical interactions 16. RGD Automated Pipelines 17. Suzuki T, etal., Int J Oncol. 2000 Dec;17(6):1131-9. 18. Sweeney C, etal., FASEB J. 2004 Sep;18(12):1421-3. Epub 2004 Jul 9. 19. Tryndyak VP, etal., Mol Carcinog. 2009 Jun;48(6):479-87. 20. Weng AP, etal., Science 2004 Oct 8;306(5694):269-71. 21. Zhu F, etal., Am J Pathol. 2010 Feb;176(2):650-9. Epub 2010 Jan 7. 22. Zhu YM, etal., Clin Cancer Res. 2006 May 15;12(10):3043-9. 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19491270   19549918   19550121   19590514   19603167   19604236   19631984   19635999   19680556   19682396   19686049   19695258   19700410   19701457   19704010   19717984   19724860   19724883   19725072   19728763   19751190   19771395   19778842   19794083   19799080   19800882   19808903   19812212   19838210   19847202   19850743   19901516   19914349   19923082   19953094   19956862   20008221   20012562   20036815   20040020   20052673   20058190   20060575   20069356   20106965   20118921   20145124   20146266   20147635   20154720   20193271   20193370   20193454   20194747   20204271   20206691   20208568   20336604   20339081   20346213   20347265   20348013   20348880   20351182   20351309   20368328   20372862   20388374   20418862   20442780   20443831   20444726   20454918   20459529   20479883   20490451   20491628   20515335   20517681   20538790   20551051   20554499   20573067   20578140   20683149   20720151   20730882   20736329   20740684   20800871   20801121   20812035   20813007   20817637   20819128   20819778   20823234   20827750   20861909   20861920   20930168   20944675   20950370   20951801   20962575   20965628   20978353   21042738   21052088   21056041   21078624   21119685   21124806   21124883   21139048   21145176   21147854   21165952   21196490   21224848   21238798   21245387   21251836   21277031   21280156   21302811   21308734   21326611   21342503   21362320   21398698   21420785   21463919   21464222   21466361   21471203   21471519   21480340   21481777   21498615   21516124   21518768   21556011   21558417   21602795   21622856   21625236   21629222   21631271   21632454   21643850   21665937   21667253   21670202   21673954   21679465   21685328   21737748   21743299   21756827   21761283   21768114   21771876   21775206   21778948   21785827   21798893   21798897   21807868   21810559   21818118   21820430   21835957   21841793   21857154   21868761   21869831   21876634   21880637   21881870   21892607   21892768   21906983   21909072   21938432   21939555   21963094   21979940   21984373   21989054   21993452   21993686   22004682   22006338   22020917   22022427   22027644   22030773   22038626   22052196   22065781   22066479   22075160   22075757   22077063   22080880   22084425   22093097   22100894   22101766   22110751   22116551   22118425   22123293   22128911   22143792   22150311   22171922   22173954   22182918   22194996   22196886   22197545   22199353   22207691   22210878   22218807   22225590   22249266   22271085   22275240   22279105   22311010   22325781   22330335   22348144   22348356   22349824   22357466   22363487   22378079   22388891   22393458   22424712   22438124   22463491   22479394   22490851   22506064   22510873   22526456   22535768   22571487   22581828   22585622   22619094   22665268   22673746   22695916   22705236   22718117   22768113   22778262   22780927   22781569   22809957   22814294   22833359   22846929   22863622   22877736   22914328   22915591   22922832   22940701   22954590   22965987   22968660   22972921   23022380   23028920   23049092   23072667   23074278   23086478   23087364   23103515   23124208   23138133   23161436   23161489   23179396   23239744   23243274   23252402   23289374   7512837   7698746   8642313   8749394   8755477   9111040   9169836   9244302   9590294   9620803   9653148 RGD Disease Portals NOTCH1 has been annotated in the following RGD Disease Portals. Biological Process Cancer Diseases Cancer Pathways Biological Process Cardiovascular Diseases Cardiovascular Pathways Diabetes Diseases Diabetes Pathways Biological Process Immune and Inflammatory Diseases Immune and Inflammatory Pathways Biological Process Neurological Pathways Obesity Diseases Obesity Pathways Biological Process Respiratory Pathways Genomics Comparative Map Data NOTCH1   (Homo sapiens) Map Chr Position Strand Source Human Alternate Assembly CHM1_1 9 139,425,469 - 139,477,649 - NCBI Human Genome Assembly HuRef 9 108,848,155 - 108,928,442 - NCBI Human Genome Assembly GRCh37 9 139,388,896 - 139,440,238 - NCBI Human Genome Assembly Build 36 9 138,508,717 - 138,560,059 - NCBI Human Cytogenetic Map 9 q34.3   NCBI Human Genome Assembly 9 136,664,733 - 136,716,075   NCBI Notch1   (Mus musculus) Map Chr Position Strand Source Mouse Genome Assembly GRCm38 2 26,457,902 - 26,503,822 - NCBI Mouse cM Map 2 18.91   NCBI Mouse Celera Assembly 2 26,175,736 - 26,221,759 - NCBI Mouse Genome Assembly Build 37 2 26,313,422 - 26,359,342 - NCBI Mouse Genome Assembly Build 36.1 2 26,313,544 - 26,359,157 - NCBI Mouse Cytogenetic Map 2 A3   NCBI Notch1   (Rattus norvegicus) Map Chr Position Strand Source Rat Cytogenetic Map 3 p13   NCBI RGSC Genome Assembly v5.0 3 9,266,663 - 9,311,575 - NCBI RGSC Genome Assembly v3.4 3 4,631,797 - 4,677,640 - NCBI Rat Celera Assembly 3 4,097,915 - 4,143,369 - NCBI Genome Assembly 3.1 3 4,632,997 - 4,677,652 - NCBI Position Markers RH80945   Map Chr Position Strand Source Human Genome Assembly HuRef 9 108,848,156 - 108,848,380   UniSTS Human Genome Assembly GRCh37 9 139,388,897 - 139,389,121   UniSTS Human Celera Assembly 9 109,903,341 - 109,903,565   RGD Human Genome Assembly Build 36 9 138,508,718 - 138,508,942   RGD Human Cytogenetic Map 9 q34.3   UniSTS PMC122602P2   Map Chr Position Strand Source Human Genome Assembly HuRef 9 108,850,470 - 108,850,826   UniSTS Human Genome Assembly GRCh37 9 139,391,211 - 139,391,567   UniSTS Human Celera Assembly 9 109,905,655 - 109,906,011   RGD Human Genome Assembly Build 36 9 138,511,032 - 138,511,388   RGD Human Cytogenetic Map 9 q34.3   UniSTS PMC140667P1   Map Chr Position Strand Source Human Genome Assembly HuRef 9 108,850,523 - 108,851,188   UniSTS Human Genome Assembly GRCh37 9 139,391,264 - 139,391,929   UniSTS Human Celera Assembly 9 109,905,708 - 109,906,373   RGD Human Genome Assembly Build 36 9 138,511,085 - 138,511,750   RGD Human Cytogenetic Map 9 q34.3   UniSTS PMC85812P1   Map Chr Position Strand Source Human Genome Assembly HuRef 9 108,855,716 - 108,856,012   UniSTS Human Genome Assembly GRCh37 9 139,396,455 - 139,396,807   UniSTS Human Celera Assembly 9 109,910,899 - 109,911,251   RGD Human Genome Assembly Build 36 9 138,516,276 - 138,516,628   RGD NOTCH1_950   Map Chr Position Strand Source Human Genome Assembly HuRef 9 108,848,150 - 108,849,043   UniSTS Human Genome Assembly GRCh37 9 139,388,891 - 139,389,784   UniSTS Human Celera Assembly 9 109,903,335 - 109,904,228   RGD Human Genome Assembly Build 36 9 138,508,712 - 138,509,605   RGD STS-M73980   Map Chr Position Strand Source Human GeneMap99-GB4 RH Map 9 417.72   UniSTS Human Genome Assembly HuRef 9 108,850,382 - 108,850,534   UniSTS Human Genome Assembly GRCh37 9 139,391,123 - 139,391,275   UniSTS Human Celera Assembly 9 109,905,567 - 109,905,719   RGD Human Genome Assembly Build 36 9 138,510,944 - 138,511,096   RGD Human Cytogenetic Map 9 q34.3   UniSTS D19S235E   Map Chr Position Strand Source Human Cytogenetic Map 9 q34.3   UniSTS QTLs in Region (Human Genome Assembly GRCh37) The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer RGD ID Symbol Name LOD P Value Trait Sub Trait Chr Start Stop Species 1358832 MULTSCL7_H Multiple sclerosis susceptibility QTL 7 (human) Multiple sclerosis susceptibility 9 113808963 139808963 Human 1643565 GLUCO28_H Glucose level QTL 28 (human) 1.4 .006 Glucose level non-insulin-dependent 9 113808963 139808963 Human 1559344 SCL89_H Serum cholesterol level QTL 89 (human) 1.61 .003 Lipid level total cholesterol 9 118527538 141149349 Human 2301179 PRSTS368_H Prostate tumor susceptibility QTL 368 (human) 1.32 .1 Prostate tumor susceptibility 9 118527538 141149349 Human 1643068 BW155_H Body weight QTL 155 (human) .0499 Body weight BMI 9 120499968 141149349 Human 1298447 RA17_H Rheumatoid arthritis QTL 17 (human) .0244 Joint/bone inflammation rheumatoid arthritis 9 123035620 141149349 Human 2293435 PRSTS205_H Prostate tumor susceptibility QTL 205 (human) 2.17 Prostate tumor susceptibility 9 125448391 141149349 Human 1643321 BW231_H Body weight QTL 231 (human) 1.01 Body weight body mass index 9 126099186 141149349 Human 2316716 GLUCO275_H Glucose level QTL 275 (human) 1.22 .01494 Glucose level 9 126099186 141149349 Human Sequence Nucleotide Sequences Nucleotide RefSeqs NG_007458 (Get FASTA) Search GEO for Microarray Profiles   NM_017617 (Get FASTA) Search GEO for Microarray Profiles GenBank Nucleotide AB209873 (Get FASTA) Search GEO for Microarray Profiles   ABBA01022709 (Get FASTA) Search GEO for Microarray Profiles   ABBA01022710 (Get FASTA) Search GEO for Microarray Profiles   ABBA01022711 (Get FASTA) Search GEO for Microarray Profiles   ABBA01022712 (Get FASTA) Search GEO for Microarray Profiles   AF308602 (Get FASTA) Search GEO for Microarray Profiles   AK000012 (Get FASTA) Search GEO for Microarray Profiles   AL354671 (Get FASTA) Search GEO for Microarray Profiles   AL592301 (Get FASTA) Search GEO for Microarray Profiles   AMYH01021865 (Get FASTA) Search GEO for Microarray Profiles   BC013208 (Get FASTA) Search GEO for Microarray Profiles   BC039147 (Get FASTA) Search GEO for Microarray Profiles   BC046127 (Get FASTA) Search GEO for Microarray Profiles   BC049843 (Get FASTA) Search GEO for Microarray Profiles   BC063597 (Get FASTA) Search GEO for Microarray Profiles   CH471090 (Get FASTA) Search GEO for Microarray Profiles   CN431067 (Get FASTA) Search GEO for Microarray Profiles   CR457221 (Get FASTA) Search GEO for Microarray Profiles   DA324222 (Get FASTA) Search GEO for Microarray Profiles   HI574318 (Get FASTA) Search GEO for Microarray Profiles   M73980 (Get FASTA) Search GEO for Microarray Profiles Reference Sequences RefSeq Acc Id: NM_017617 RefSeq Status: REVIEWED Type: CODING Protein Acc Id: NP_060087 Peptide Label: preproprotein Position: Map Chr Position Strand Source Human Alternate Assembly CHM1_1 9 139,425,469 - 139,477,649 - NCBI Human Genome Assembly HuRef 9 108,848,155 - 108,928,442 - ENTREZGENE Human Genome Assembly GRCh37 9 139,388,896 - 139,440,238 - ENTREZGENE Human Genome Assembly Build 36 9 138,508,717 - 138,560,059 - NCBI Archive Protein Sequences Protein RefSeqs NP_060087 (Get FASTA) GenBank Protein AAA60614 (Get FASTA)   AAG33848 (Get FASTA)   BAA90883 (Get FASTA)   BAD93110 (Get FASTA)   CAG33502 (Get FASTA)   CBX47648 (Get FASTA)   EAW88241 (Get FASTA)   P46531 (Get FASTA) Promoters RGD ID: 6807926 Promoter ID: HG_KWN:65605 Type: CpG-Island SO ACC ID: SO:0000170 Source: MPROMDB Tissues & Cell Lines: HeLa_S3,   Lymphoblastoid Transcripts: OTTHUMT00000055088 Position: Map Chr Position Strand Source Human Genome Assembly Build 36 9 138,519,019 - 138,519,519 - MPROMDB RGD ID: 6807927 Promoter ID: HG_KWN:65606 Type: CpG-Island SO ACC ID: SO:0000170 Source: MPROMDB Tissues & Cell Lines: CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid Transcripts: UC004CIA.1 Position: Map Chr Position Strand Source Human Genome Assembly Build 36 9 138,527,636 - 138,528,792 - MPROMDB RGD ID: 6807925 Promoter ID: HG_KWN:65607 Type: CpG-Island SO ACC ID: SO:0000170 Source: MPROMDB Tissues & Cell Lines: Lymphoblastoid Transcripts: OTTHUMT00000055089 Position: Map Chr Position Strand Source Human Genome Assembly Build 36 9 138,537,576 - 138,538,076 - MPROMDB RGD ID: 6814816 Promoter ID: HG_XEF:8483 Type: CpG-Island SO ACC ID: SO:0000170 Source: MPROMDB Tissues & Cell Lines: CD4+TCell,   Lymphoblastoid Transcripts: NM_001087605,   NM_001097288 Position: Map Chr Position Strand Source Human Genome Assembly Build 36 9 138,558,501 - 138,559,001 - MPROMDB RGD ID: 6808157 Promoter ID: HG_KWN:65609 Type: CpG-Island SO ACC ID: SO:0000170 Source: MPROMDB Tissues & Cell Lines: CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4 Transcripts: ENST00000277541,   ENST00000371700,   OTTHUMT00000055084 Position: Map Chr Position Strand Source Human Genome Assembly Build 36 9 138,559,051 - 138,560,742 + MPROMDB Additional Information External Database Links Database Acc Id Source(s) COSMIC NOTCH1 COSMIC Ensembl Genes ENSG00000148400 ENTREZGENE Ensembl Protein ENSP00000277541 ENTREZGENE Ensembl Transcript ENST00000277541 ENTREZGENE Entrez Gene 4851 ENTREZGENE Gene3D-CATH ANK UniProtKB/Swiss-Prot Germonline ENSG00000148400 HGNC ID 7881 ENTREZGENE HomoloGene Group ID 32049 ENTREZGENE HPRD ID 01827 ENTREZGENE InterPro Ankyrin_rpt UniProtKB/Swiss-Prot   Ankyrin_rpt-contain_dom UniProtKB/Swiss-Prot   DUF3454_notch UniProtKB/Swiss-Prot   EGF-like_Ca-bd UniProtKB/Swiss-Prot   EGF-like_reg_CS UniProtKB/Swiss-Prot   EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot   EGF_3 UniProtKB/Swiss-Prot   EGF_Ca-bd_CS UniProtKB/Swiss-Prot   Notch UniProtKB/Swiss-Prot   Notch_1 UniProtKB/Swiss-Prot   Notch_dom UniProtKB/Swiss-Prot   Notch_NOD_dom UniProtKB/Swiss-Prot   Notch_NODP_dom UniProtKB/Swiss-Prot IPI IPI00386123 UniProtKB/TrEMBL   IPI00412982 UniProtKB/Swiss-Prot KEGG Report hsa:4851 ENTREZGENE, UniProtKB/Swiss-Prot OMIM 109730 OMIM   190198 OMIM Pfam Ank UniProtKB/Swiss-Prot   Ank_2 UniProtKB/Swiss-Prot   DUF3454 UniProtKB/Swiss-Prot   EGF UniProtKB/Swiss-Prot   EGF_CA UniProtKB/Swiss-Prot   hEGF UniProtKB/Swiss-Prot   NOD UniProtKB/Swiss-Prot   NODP UniProtKB/Swiss-Prot   Notch UniProtKB/Swiss-Prot PharmGKB PA31683 PharmGKB PIRSF Notch UniProtKB/Swiss-Prot PRINTS LNOTCHREPEAT UniProtKB/Swiss-Prot   NOTCH1 UniProtKB/Swiss-Prot PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot   ANK_REPEAT UniProtKB/Swiss-Prot   ASX_HYDROXYL UniProtKB/Swiss-Prot   EGF_1 UniProtKB/Swiss-Prot   EGF_2 UniProtKB/Swiss-Prot   EGF_3 UniProtKB/Swiss-Prot   EGF_CA UniProtKB/Swiss-Prot   LNR UniProtKB/Swiss-Prot SMART ANK UniProtKB/Swiss-Prot   EGF UniProtKB/Swiss-Prot   EGF_CA UniProtKB/Swiss-Prot   SM00004 UniProtKB/Swiss-Prot Superfamily-SCOP ANK UniProtKB/Swiss-Prot   Notch_region UniProtKB/Swiss-Prot UniGene Hs.495473 ENTREZGENE UniProt NOTC1_HUMAN UniProtKB/Swiss-Prot   Q9NXX4_HUMAN UniProtKB/TrEMBL Nomenclature History Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status 2011-08-16 NOTCH1  notch 1  NOTCH1  notch 1  Symbol and/or name change 39860 APPROVED 2011-07-27 NOTCH1  notch 1  NOTCH1  Notch homolog 1, translocation-associated (Drosophila)  Symbol and/or name change 39860 APPROVED

More on NOTCH1 Entrez Gene Ensembl Gene Genome Browser: (hg18) (hg19) HGNC Report NCBI Map Viewer Vista Vista + UCSC RGD Object Information RGD ID: 737367 Created: 2004-02-06 Species: Homo sapiens Last Modified: 2013-04-30 Status: ACTIVE