NOTCH1


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. [provided by RefSeq, Jan 2016].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
notch 1MIM:190198Ensembl:ENSG00000148400HGNC:HGNC:7881PA316839q34.3

GO terms in NOTCH1


Term TypeEvidence TypeGO Term IDGO Des.
BPISSGO:0000122negative regulation of transcription by RNA polymerase II
BPIEAGO:0001701in utero embryonic development
BPIEAGO:0001708cell fate specification
BPISSGO:0001837epithelial to mesenchymal transition
BPIEAGO:0001889liver development
BPISSGO:0001947heart looping
BPIEAGO:0002040sprouting angiogenesis
BPIEAGO:0002052positive regulation of neuroblast proliferation
BPIEAGO:0002437inflammatory response to antigenic stimulus
BPIMPGO:0003151outflow tract morphogenesis
BPISSGO:0003157endocardium development
BPISSGO:0003160endocardium morphogenesis
BPIEAGO:0003162atrioventricular node development
BPISSGO:0003169coronary vein morphogenesis
BPIMPGO:0003180aortic valve morphogenesis
BPISSGO:0003180aortic valve morphogenesis
BPTASGO:0003180aortic valve morphogenesis
BPISSGO:0003181atrioventricular valve morphogenesis
BPIEAGO:0003182coronary sinus valve morphogenesis
BPIMPGO:0003184pulmonary valve morphogenesis
BPISSGO:0003184pulmonary valve morphogenesis
BPIMPGO:0003192mitral valve formation
BPISSGO:0003198epithelial to mesenchymal transition involved in endocardial cushion formation
BPISSGO:0003203endocardial cushion morphogenesis
BPISSGO:0003207cardiac chamber formation
BPISSGO:0003208cardiac ventricle morphogenesis
BPISSGO:0003209cardiac atrium morphogenesis
BPISSGO:0003213cardiac right atrium morphogenesis
BPISSGO:0003214cardiac left ventricle morphogenesis
BPIEAGO:0003219cardiac right ventricle formation
BPISSGO:0003222ventricular trabecula myocardium morphogenesis
BPISSGO:0003241growth involved in heart morphogenesis
BPISSGO:0003252negative regulation of cell proliferation involved in heart valve morphogenesis
BPISSGO:0003256regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation
BPIEAGO:0003270Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation
BPISSGO:0003273cell migration involved in endocardial cushion formation
BPISSGO:0003332negative regulation of extracellular matrix constituent secretion
BPISSGO:0003344pericardium morphogenesis
BPTASGO:0006355regulation of transcription, DNA-templated
BPTASGO:0006367transcription initiation from RNA polymerase II promoter
BPNASGO:0006955immune response
BPIEAGO:0006959humoral immune response
BPIDAGO:0007050cell cycle arrest
BPIDAGO:0007219Notch signaling pathway
BPIMPGO:0007219Notch signaling pathway
BPTASGO:0007219Notch signaling pathway
BPISSGO:0007221positive regulation of transcription of Notch receptor target
BPTASGO:0007221positive regulation of transcription of Notch receptor target
BPIEAGO:0007283spermatogenesis
BPISSGO:0007368determination of left/right symmetry
BPIEAGO:0007386compartment pattern specification
BPIEAGO:0007409axonogenesis
BPIEAGO:0007440foregut morphogenesis
BPIEAGO:0007492endoderm development
BPIMPGO:0007507heart development
BPIDAGO:0008284positive regulation of cell proliferation
BPIMPGO:0008284positive regulation of cell proliferation
BPIDAGO:0008285negative regulation of cell proliferation
BPIEAGO:0009912auditory receptor cell fate commitment
BPISSGO:0010614negative regulation of cardiac muscle hypertrophy
BPISSGO:0010628positive regulation of gene expression
BPIDAGO:0010629negative regulation of gene expression
BPIMPGO:0010718positive regulation of epithelial to mesenchymal transition
BPIDAGO:0010812negative regulation of cell-substrate adhesion
BPISSGO:0010832negative regulation of myotube differentiation
BPISSGO:0014031mesenchymal cell development
BPIEAGO:0014807regulation of somitogenesis
BPIEAGO:0021515cell differentiation in spinal cord
BPIEAGO:0021915neural tube development
BPIEAGO:0030216keratinocyte differentiation
BPISSGO:0030279negative regulation of ossification
BPIEAGO:0030324lung development
BPISSGO:0030335positive regulation of cell migration
BPISSGO:0030513positive regulation of BMP signaling pathway
BPISSGO:0030514negative regulation of BMP signaling pathway
BPIEAGO:0030900forebrain development
BPIEAGO:0031069hair follicle morphogenesis
BPIEAGO:0031100animal organ regeneration
BPIEAGO:0031960response to corticosteroid
BPIEAGO:0032495response to muramyl dipeptide
BPIEAGO:0032496response to lipopolysaccharide
BPIEAGO:0035116embryonic hindlimb morphogenesis
BPIMPGO:0035148tube formation
BPIEAGO:0035914skeletal muscle cell differentiation
BPIDAGO:0035924cellular response to vascular endothelial growth factor stimulus
BPIEAGO:0042246tissue regeneration
BPISSGO:0043086negative regulation of catalytic activity
BPIEAGO:0045070positive regulation of viral genome replication
BPIEAGO:0045603positive regulation of endothelial cell differentiation
BPIEAGO:0045608negative regulation of inner ear auditory receptor cell differentiation
BPIEAGO:0045618positive regulation of keratinocyte differentiation
BPIMPGO:0045662negative regulation of myoblast differentiation
BPISSGO:0045668negative regulation of osteoblast differentiation
BPTASGO:0045747positive regulation of Notch signaling pathway
BPISSGO:0045892negative regulation of transcription, DNA-templated
BPISSGO:0045893positive regulation of transcription, DNA-templated
BPIDAGO:0045944positive regulation of transcription by RNA polymerase II
BPISSGO:0045944positive regulation of transcription by RNA polymerase II
BPIEAGO:0045955negative regulation of calcium ion-dependent exocytosis
BPIDAGO:0045967negative regulation of growth rate
BPISSGO:0046427positive regulation of JAK-STAT cascade
BPIEAGO:0046533negative regulation of photoreceptor cell differentiation
BPIDAGO:0046579positive regulation of Ras protein signal transduction
BPIEAGO:0048103somatic stem cell division
BPIEAGO:0048708astrocyte differentiation
BPIEAGO:0048709oligodendrocyte differentiation
BPISSGO:0048711positive regulation of astrocyte differentiation
BPISSGO:0048715negative regulation of oligodendrocyte differentiation
BPIEAGO:0048754branching morphogenesis of an epithelial tube
BPIEAGO:0048873homeostasis of number of cells within a tissue
BPIEAGO:0050679positive regulation of epithelial cell proliferation
BPISSGO:0050768negative regulation of neurogenesis
BPISSGO:0055008cardiac muscle tissue morphogenesis
BPIEAGO:0060038cardiac muscle cell proliferation
BPISSGO:0060045positive regulation of cardiac muscle cell proliferation
BPISSGO:0060253negative regulation of glial cell proliferation
BPISSGO:0060271cilium assembly
BPISSGO:0060317cardiac epithelial to mesenchymal transition
BPISSGO:0060411cardiac septum morphogenesis
BPIMPGO:0060412ventricular septum morphogenesis
BPIEAGO:0060528secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development
BPIEAGO:0060740prostate gland epithelium morphogenesis
BPIEAGO:0060768regulation of epithelial cell proliferation involved in prostate gland development
BPISSGO:0060842arterial endothelial cell differentiation
BPISSGO:0060843venous endothelial cell differentiation
BPISSGO:0060948cardiac vascular smooth muscle cell development
BPISSGO:0060956endocardial cell differentiation
BPISSGO:0060979vasculogenesis involved in coronary vascular morphogenesis
BPISSGO:0060982coronary artery morphogenesis
BPIMPGO:0061314Notch signaling involved in heart development
BPISSGO:0061384heart trabecula morphogenesis
BPISSGO:0061419positive regulation of transcription from RNA polymerase II promoter in response to hypoxia
BPISSGO:0070168negative regulation of biomineral tissue development
BPIDAGO:0070374positive regulation of ERK1 and ERK2 cascade
BPIEAGO:0070986left/right axis specification
BPIDAGO:0071372cellular response to follicle-stimulating hormone stimulus
BPIEAGO:0072017distal tubule development
BPIEAGO:0072044collecting duct development
BPIEAGO:0072144glomerular mesangial cell development
BPIEAGO:0072602interleukin-4 secretion
BPIDAGO:0090051negative regulation of cell migration involved in sprouting angiogenesis
BPIEAGO:0090090negative regulation of canonical Wnt signaling pathway
BPIEPGO:0097150neuronal stem cell population maintenance
BPISSGO:1901201regulation of extracellular matrix assembly
BPIEAGO:1902263apoptotic process involved in embryonic digit morphogenesis
BPISSGO:1902339positive regulation of apoptotic process involved in morphogenesis
BPIEAGO:1903849positive regulation of aorta morphogenesis
BPIMPGO:2000737negative regulation of stem cell differentiation
BPIMPGO:2000811negative regulation of anoikis
BPISSGO:2000974negative regulation of pro-B cell differentiation
BPIDAGO:2001027negative regulation of endothelial cell chemotaxis
CCTASGO:0000139Golgi membrane
CCIEAGO:0001669acrosomal vesicle
CCIDAGO:0002193MAML1-RBP-Jkappa- ICN1 complex
CCTASGO:0005576extracellular region
CCISSGO:0005634nucleus
CCTASGO:0005634nucleus
CCTASGO:0005654nucleoplasm
CCTASGO:0005789endoplasmic reticulum membrane
CCTASGO:0005829cytosol
CCISSGO:0005886plasma membrane
CCTASGO:0005886plasma membrane
CCISSGO:0005912adherens junction
CCIEAGO:0009986cell surface
CCIEAGO:0016021integral component of membrane
CCISSGO:0016324apical plasma membrane
CCIDAGO:0043235receptor complex
MFISSGO:0000978RNA polymerase II proximal promoter sequence-specific DNA binding
MFISSGO:0001190transcriptional activator activity, RNA polymerase II transcription factor binding
MFIEAGO:0003700DNA-binding transcription factor activity
MFISSGO:0004857enzyme inhibitor activity
MFIEAGO:0004888transmembrane signaling receptor activity
MFIEAGO:0005112Notch binding
MFIEAGO:0005509calcium ion binding
MFIPIGO:0005515protein binding
MFISSGO:0019899enzyme binding
MFIEAGO:0031490chromatin DNA binding
MFIEAGO:0046982protein heterodimerization activity

Gene expression in normal tissue: NOTCH1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in NOTCH1


DatabasePathway IDPathway Des.
wikipathwaysWP1591Heart Development
wikipathwaysWP2002miR-targeted genes in epithelium - TarBase
wikipathwaysWP2004miR-targeted genes in lymphocytes - TarBase
wikipathwaysWP2005miR-targeted genes in muscle cell - TarBase
wikipathwaysWP2064Neural Crest Differentiation
wikipathwaysWP2361Gastric Cancer Network 1
wikipathwaysWP2406Cardiac Progenitor Differentiation
wikipathwaysWP2572Primary Focal Segmental Glomerulosclerosis FSGS
wikipathwaysWP268Notch Signaling Pathway
wikipathwaysWP2786Pre-NOTCH Expression and Processing
wikipathwaysWP2848Differentiation Pathway
wikipathwaysWP2849Hematopoietic Stem Cell Differentiation
wikipathwaysWP2853Endoderm Differentiation
wikipathwaysWP2854Gene regulatory network modelling somitogenesis
wikipathwaysWP3413NOTCH1 regulation of human endothelial cell calcification
wikipathwaysWP3651Pathways Affected in Adenoid Cystic Carcinoma
wikipathwaysWP3678Amplification and Expansion of Oncogenic Pathways as Metastatic Traits
wikipathwaysWP3845Canonical and Non-canonical Notch signaling
wikipathwaysWP3927BMP Signaling Pathway in Eyelid Development
wikipathwaysWP3971Role of Osx and miRNAs in tooth development
wikipathwaysWP4147PTF1A related regulatory pathway
wikipathwaysWP4239EMT transition in Colorectal Cancer
wikipathwaysWP4242Notch Signaling Pathway
wikipathwaysWP61Notch Signaling Pathway
netpathPathway_NotchNotch
piddeltanp63pathwayValidated transcriptional targets of deltaNp63 isoforms
pidhes_heypathwayNotch-mediated HES/HEY network
pidnotch_pathwayNotch signaling pathway
pidps1pathwayPresenilin action in Notch and Wnt signaling
kegghsa04330Notch signaling pathway - Homo sapiens (human)
kegghsa04658Th1 and Th2 cell differentiation - Homo sapiens (human)
kegghsa04919Thyroid hormone signaling pathway - Homo sapiens (human)
kegghsa05020Prion diseases - Homo sapiens (human)
kegghsa05165Human papillomavirus infection - Homo sapiens (human)
kegghsa05200Pathways in cancer - Homo sapiens (human)
kegghsa05206MicroRNAs in cancer - Homo sapiens (human)
kegghsa05224Breast cancer - Homo sapiens (human)
biocartanotchpathwayproteolysis and signaling pathway of notch
reactomeR-HSA-1266738Developmental Biology
reactomeR-HSA-157118Signaling by NOTCH
reactomeR-HSA-157118Signaling by NOTCH
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-1643685Disease
reactomeR-HSA-186712Regulation of beta-cell development
reactomeR-HSA-1912399Pre-NOTCH Processing in the Endoplasmic Reticulum
reactomeR-HSA-1912408Pre-NOTCH Transcription and Translation
reactomeR-HSA-1912408Pre-NOTCH Transcription and Translation
reactomeR-HSA-1912420Pre-NOTCH Processing in Golgi
reactomeR-HSA-1912420Pre-NOTCH Processing in Golgi
reactomeR-HSA-1912422Pre-NOTCH Expression and Processing
reactomeR-HSA-1912422Pre-NOTCH Expression and Processing
reactomeR-HSA-1980143Signaling by NOTCH1
reactomeR-HSA-1980143Signaling by NOTCH1
reactomeR-HSA-210744Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
reactomeR-HSA-2122947NOTCH1 Intracellular Domain Regulates Transcription
reactomeR-HSA-2122947NOTCH1 Intracellular Domain Regulates Transcription
reactomeR-HSA-2122948Activated NOTCH1 Transmits Signal to the Nucleus
reactomeR-HSA-2122948Activated NOTCH1 Transmits Signal to the Nucleus
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-2644602Signaling by NOTCH1 PEST Domain Mutants in Cancer
reactomeR-HSA-2644603Signaling by NOTCH1 in Cancer
reactomeR-HSA-2644605FBXW7 Mutants and NOTCH1 in Cancer
reactomeR-HSA-2644606Constitutive Signaling by NOTCH1 PEST Domain Mutants
reactomeR-HSA-2644607Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
reactomeR-HSA-2660825Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
reactomeR-HSA-2660826Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
reactomeR-HSA-2691230Signaling by NOTCH1 HD Domain Mutants in Cancer
reactomeR-HSA-2691232Constitutive Signaling by NOTCH1 HD Domain Mutants
reactomeR-HSA-2894858Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
reactomeR-HSA-2894862Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
reactomeR-HSA-350054Notch-HLH transcription pathway
reactomeR-HSA-3781865Diseases of glycosylation
reactomeR-HSA-3906995Diseases associated with O-glycosylation of proteins
reactomeR-HSA-5083630Defective LFNG causes SCDO3
reactomeR-HSA-5663202Diseases of signal transduction
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-8878159Transcriptional regulation by RUNX3
reactomeR-HSA-8878159Transcriptional regulation by RUNX3
reactomeR-HSA-8941856RUNX3 regulates NOTCH signaling
reactomeR-HSA-8941856RUNX3 regulates NOTCH signaling
reactomeR-HSA-9012852Signaling by NOTCH3
reactomeR-HSA-9012852Signaling by NOTCH3
reactomeR-HSA-9013508NOTCH3 Intracellular Domain Regulates Transcription
reactomeR-HSA-9013508NOTCH3 Intracellular Domain Regulates Transcription
reactomeR-HSA-9013694Signaling by NOTCH4
reactomeR-HSA-9013695NOTCH4 Intracellular Domain Regulates Transcription

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD680RO49290974
iGMDRD178MG-1321
iGMDRD536PLX-47201
iGMDRD351GW843682X6
iGMDRD651PF-030840144
iGMDRD84Lovastatin acid6
iGMDRD412VX-7021
iGMDRD42Vorinostat1
iGMDRD353PD03259011
iGMDRD82Quiflapon2
iGMDRD246NPC261
iGMDRD882CIL411
iGMDRD414MST-3123
iGMDRD68Paclitaxel1
iGMDRD481Dactolisib3
iGMDRD565BI-D18701
iGMDRD88AICA ribonucleotide2
iGMDRD558CAY106031
iGMDRD386TAK-7151
iGMDRD181CDK4 inhibitor3
iGMDRD378ZM-4474391
iGMDRD297Austocystin D3
iGMDRD163all trans Retinoic Acid1
iGMDRD253Vincaleukoblastine1
iGMDRD446LY 21832402
iGMDRD608Refametinib1
iGMDRD462OSI-906 (Linsitinib)3
iGMDRD328AR-421
iGMDRD239Dasatinib1
iGMDRD136Nutlin-31
iGMDRD112Methotrexate1
iGMDRD577BIX012943
iGMDRD332A-7700411
iGMDRD30917AAG1
iGMDRD782DC-45-A23
iGMDRD666LGK9741
iGMDRD134Sorafenib1
iGMDRD255SB2250028
iGMDRD945ML2143
iGMDRD123Isoevodiamine3
iGMDRD237ABT-7513
iGMDRD352PD-03259011
iGMDRD50Cytarabine1
iGMDRD27WHI-P971
iGMDRD964OMP-59R52
iGMDRD150RITA3
iGMDRD370TPCA-11
iGMDRD564GSK-6503941
iGMDRD322FK 8661
iGMDRD421AZD77621
iGMDRD957NOTCH1 Antibody1
iGMDRD366PI-1032
iGMDRD662JQ-11
iGMDRD396AS6012451
iGMDRD343MK-07527
iGMDRD289Parthenolide1
iGMDRD705Nakiterpiosin2
iGMDRD525Gamma secretase inhibitor27
iGMDRD5Tyrphostin AG 14782
iGMDRD293Bleomycin1
iGMDRD949mTOR inhibitor3
iGMDRD198AC1LE7KD1
iGMDRD21Fluorouracil1
iGMDRD781Sirolimus3
iGMDRD403BAY 61-36061
iGMDRD476WH-4-0231
iGMDRD670ML 2103
iGMDRD546BMS-7548071
iGMDRD654SL 0101-11
iGMDRD425ERASTIN1
iGMDRD1012steroids early setting6
iGMDRD409Saracatinib1
iGMDRD602Foretinib1
iGMDRD524ISX-93
iGMDRD190Nilotinib1
iGMDRD399Selumetinib1
iGMDRD117Docetaxel1
iGMDRD284Palbociclib2
iGMDRD493GSK269962A1
iGMDRD568SCHEMBL150055121
iGMDRD963OMP-52M512

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in NOTCH1

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