AutismKB 2.0

Annotation Details for NOTCH1


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Basic Information Top
Gene Symbol:NOTCH1 ( TAN1,hN1 )
Gene Full Name: notch 1
Band: 9q34.3
Quick LinksEntrez ID:4851; OMIM: 190198; Uniprot ID:NOTC1_HUMAN; ENSEMBL ID: ENSG00000148400; HGNC ID: 7881
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139TAS-Golgi membrane-
GO:0001669IEA-acrosomal vesicle-
GO:0002193IDA-MAML1-RBP-Jkappa- ICN1 complex16510869
GO:0005576TAS-extracellular region-
GO:0005634ISS-nucleus-
GO:0005634TAS-nucleus10713164
GO:0005654TAS-nucleoplasm-
GO:0005789TAS-endoplasmic reticulum membrane-
GO:0005829TAS-cytosol-
GO:0005886TAS-plasma membrane-
GO:0005912ISS-adherens junction-
GO:0009986IEA-cell surface-
GO:0016021IEA-integral component of membrane-
GO:0016324ISS-apical plasma membrane-
GO:0043235IDA-receptor complex23382219
GO ID Evidence Qualifier GO_term References
GO:0001047ISS-core promoter binding-
GO:0001190ISS-transcriptional activator activity, RNA polymerase II transcription factor binding-
GO:0003700IEA-transcription factor activity, sequence-specific DNA binding-
GO:0004857ISS-enzyme inhibitor activity-
GO:0004872IEA-receptor activity-
GO:0005112IEA-Notch binding-
GO:0005509IEA-calcium ion binding-
GO:0005515IPI-protein binding10713164
GO:0019899ISS-enzyme binding-
GO:0031490IEA-chromatin DNA binding-
GO:0043565IEA-sequence-specific DNA binding-
GO:0046982IEA-protein heterodimerization activity-
GO ID Evidence Qualifier GO_term References
GO:0000122ISS-negative regulation of transcription from RNA polymerase II promoter-
GO:0001701IEA-in utero embryonic development-
GO:0001708IEA-cell fate specification-
GO:0001837ISS-epithelial to mesenchymal transition-
GO:0001889IEA-liver development-
GO:0001947ISS-heart looping-
GO:0002040IEA-sprouting angiogenesis-
GO:0002052IEA-positive regulation of neuroblast proliferation-
GO:0002437IEA-inflammatory response to antigenic stimulus-
GO:0003157ISS-endocardium development-
GO:0003160ISS-endocardium morphogenesis-
GO:0003162IEA-atrioventricular node development-
GO:0003169ISS-coronary vein morphogenesis-
GO:0003180IMP-aortic valve morphogenesis16025100
GO:0003181ISS-atrioventricular valve morphogenesis-
GO:0003184IMP-pulmonary valve morphogenesis16025100
GO:0003192IMP-mitral valve formation16025100
GO:0003198ISS-epithelial to mesenchymal transition involved in endocardial cushion formation-
GO:0003203ISS-endocardial cushion morphogenesis-
GO:0003207ISS-cardiac chamber formation-
GO:0003208ISS-cardiac ventricle morphogenesis-
GO:0003209ISS-cardiac atrium morphogenesis-
GO:0003213ISS-cardiac right atrium morphogenesis-
GO:0003214ISS-cardiac left ventricle morphogenesis-
GO:0003219IEA-cardiac right ventricle formation-
GO:0003222ISS-ventricular trabecula myocardium morphogenesis-
GO:0003241ISS-growth involved in heart morphogenesis-
GO:0003256ISS-regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation-
GO:0003270IEA-Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation-
GO:0003273ISS-cell migration involved in endocardial cushion formation-
GO:0003344ISS-pericardium morphogenesis-
GO:0006355TAS-regulation of transcription, DNA-templated10713164
GO:0006367TAS-transcription initiation from RNA polymerase II promoter-
GO:0006955NAS-immune response1831692
GO:0006959IEA-humoral immune response-
GO:0007219IMP-Notch signaling pathway19682396
GO:0007219TAS-Notch signaling pathway10713164
GO:0007221ISS-positive regulation of transcription of Notch receptor target-
GO:0007283IEA-spermatogenesis-
GO:0007368ISS-determination of left/right symmetry-
GO:0007386IEA-compartment pattern specification-
GO:0007409IEA-axonogenesis-
GO:0007440IEA-foregut morphogenesis-
GO:0007492IEA-endoderm development-
GO:0007507IMP-heart development21457232
GO:0008284IDA-positive regulation of cell proliferation17849174
GO:0008284IMP-positive regulation of cell proliferation20613903
GO:0008285IDA-negative regulation of cell proliferation20616313
GO:0009912IEA-auditory receptor cell fate commitment-
GO:0010718IMP-positive regulation of epithelial to mesenchymal transition17984306
GO:0010812IDA-negative regulation of cell-substrate adhesion16501043
GO:0010832ISS-negative regulation of myotube differentiation-
GO:0014031ISS-mesenchymal cell development-
GO:0014807IEA-regulation of somitogenesis-
GO:0021515IEA-cell differentiation in spinal cord-
GO:0021915IEA-neural tube development-
GO:0030216IEA-keratinocyte differentiation-
GO:0030279ISS-negative regulation of ossification-
GO:0030324IEA-lung development-
GO:0030335ISS-positive regulation of cell migration-
GO:0030513ISS-positive regulation of BMP signaling pathway-
GO:0030514ISS-negative regulation of BMP signaling pathway-
GO:0030900IEA-forebrain development-
GO:0031069IEA-hair follicle morphogenesis-
GO:0031100IEA-animal organ regeneration-
GO:0031960IEA-response to corticosteroid-
GO:0032495IEA-response to muramyl dipeptide-
GO:0032496IEA-response to lipopolysaccharide-
GO:0035116IEA-embryonic hindlimb morphogenesis-
GO:0035148IMP-tube formation20616313
GO:0035914IEA-skeletal muscle cell differentiation-
GO:0035924IDA-cellular response to vascular endothelial growth factor stimulus20616313
GO:0042246IEA-tissue regeneration-
GO:0043065IEA-positive regulation of apoptotic process-
GO:0043086ISS-negative regulation of catalytic activity-
GO:0045070IEA-positive regulation of viral genome replication-
GO:0045603IEA-positive regulation of endothelial cell differentiation-
GO:0045608IEA-negative regulation of auditory receptor cell differentiation-
GO:0045618IEA-positive regulation of keratinocyte differentiation-
GO:0045662IMP-negative regulation of myoblast differentiation10713164
GO:0045668ISS-negative regulation of osteoblast differentiation-
GO:0045747IEA-positive regulation of Notch signaling pathway-
GO:0045892ISS-negative regulation of transcription, DNA-templated-
GO:0045893ISS-positive regulation of transcription, DNA-templated-
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter20616313
GO:0045944ISS-positive regulation of transcription from RNA polymerase II promoter-
GO:0045955IEA-negative regulation of calcium ion-dependent exocytosis-
GO:0046427ISS-positive regulation of JAK-STAT cascade-
GO:0046533IEA-negative regulation of photoreceptor cell differentiation-
GO:0048103IEA-somatic stem cell division-
GO:0048708IEA-astrocyte differentiation-
GO:0048709IEA-oligodendrocyte differentiation-
GO:0048711ISS-positive regulation of astrocyte differentiation-
GO:0048715ISS-negative regulation of oligodendrocyte differentiation-
GO:0048754IEA-branching morphogenesis of an epithelial tube-
GO:0050679IEA-positive regulation of epithelial cell proliferation-
GO:0050768ISS-negative regulation of neurogenesis-
GO:0055008ISS-cardiac muscle tissue morphogenesis-
GO:0060038IEA-cardiac muscle cell proliferation-
GO:0060045ISS-positive regulation of cardiac muscle cell proliferation-
GO:0060253ISS-negative regulation of glial cell proliferation-
GO:0060271ISS-cilium assembly-
GO:0060317ISS-cardiac epithelial to mesenchymal transition-
GO:0060411ISS-cardiac septum morphogenesis-
GO:0060412IMP-ventricular septum morphogenesis16025100
GO:0060528IEA-secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development-
GO:0060740IEA-prostate gland epithelium morphogenesis-
GO:0060768IEA-regulation of epithelial cell proliferation involved in prostate gland development-
GO:0060842ISS-arterial endothelial cell differentiation-
GO:0060843ISS-venous endothelial cell differentiation-
GO:0060948ISS-cardiac vascular smooth muscle cell development-
GO:0060956ISS-endocardial cell differentiation-
GO:0060979ISS-vasculogenesis involved in coronary vascular morphogenesis-
GO:0060982ISS-coronary artery morphogenesis-
GO:0061314IMP-Notch signaling involved in heart development16025100
GO:0061384ISS-heart trabecula morphogenesis-
GO:0061419ISS-positive regulation of transcription from RNA polymerase II promoter in response to hypoxia-
GO:0070986IEA-left/right axis specification-
GO:0071372IDA-cellular response to follicle-stimulating hormone stimulus20613903
GO:0072017IEA-distal tubule development-
GO:0072044IEA-collecting duct development-
GO:0072144IEA-glomerular mesangial cell development-
GO:0072602IEA-interleukin-4 secretion-
GO:0090051IDA-negative regulation of cell migration involved in sprouting angiogenesis20616313
GO:0090090IEA-negative regulation of canonical Wnt signaling pathway-
GO:0097150IEP-neuronal stem cell population maintenance19682396
GO:1901201ISS-regulation of extracellular matrix assembly-
GO:1902263IEA-apoptotic process involved in embryonic digit morphogenesis-
GO:1903849IEA-positive regulation of aorta morphogenesis-
GO:2000737IMP-negative regulation of stem cell differentiation19682396
GO:2000811IMP-negative regulation of anoikis17984306
GO:2000974ISS-negative regulation of pro-B cell differentiation-
GO:2001027IDA-negative regulation of endothelial cell chemotaxis20616313
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
NOTCH1JAG111091311006133 Reconstituted Complex
NOTCH1JAG110668911006133 Reconstituted Complex
NOTCH1AKT111091318440314 Biochemical Activity
NOTCH1AKT110671018440314 Biochemical Activity
NOTCH1CBL10731511777909 Affinity Capture-Western
NOTCH1CBL11091311777909 Affinity Capture-Western
NOTCH1CNTN111091314567914 Affinity Capture-Western
NOTCH1CNTN110767214567914 Affinity Capture-Western
NOTCH1DTX111091311564735 Affinity Capture-Western
NOTCH1DTX110817311564735 Affinity Capture-Western
NOTCH1EP30011091319838210 Affinity Capture-Western
NOTCH1EP30010834719838210 Affinity Capture-Western
NOTCH1XRCC611091316169070 Two-hybrid
NOTCH1XRCC610882216169070 Two-hybrid
NOTCH1GSK3B11091312123574 Biochemical Activity; Reconstituted Complex
NOTCH1GSK3B10918712123574 Biochemical Activity; Reconstituted Complex
NOTCH1RBPJ1097369111040 12644465 Affinity Capture-Western; Reconstituted Complex
NOTCH1RBPJ1109139111040 12644465 Affinity Capture-Western; Reconstituted Complex
NOTCH1JAG211091311006133 Reconstituted Complex
NOTCH1JAG210991811006133 Reconstituted Complex
NOTCH1LCK11091314583609 Affinity Capture-Western
NOTCH1LCK11012414583609 Affinity Capture-Western
NOTCH1SMAD311091314638857 Affinity Capture-Western; Reconstituted Complex
NOTCH1SMAD311026314638857 Affinity Capture-Western; Reconstituted Complex
NOTCH1NFKB11109138642313 11418662 Affinity Capture-Western; Reconstituted Complex
NOTCH1NFKB11108578642313 11418662 Affinity Capture-Western; Reconstituted Complex
RELANOTCH11109138642313 Affinity Capture-Western
RELANOTCH11119028642313 Affinity Capture-Western
NUMBNOTCH11109138755477 Reconstituted Complex
NUMBNOTCH11142028755477 Reconstituted Complex
PSEN1NOTCH111091310077672 Affinity Capture-Western
PSEN1NOTCH111164210077672 Affinity Capture-Western
NOTCH1NOTCH111091310669757 Affinity Capture-Western
SNW1NOTCH111091310713164 11404076 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
SNW1NOTCH111659710713164 11404076 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
DLL1NOTCH111839111006133 Reconstituted Complex
DLL1NOTCH111091311006133 Reconstituted Complex
MAML1NOTCH111091311101851 12370315 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
MAML1NOTCH111513811101851 12370315 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
NOTCH3NOTCH111091311404076 Phenotypic Suppression
NOTCH3NOTCH111091611404076 Phenotypic Suppression
FBXW7NOTCH112058111425854 17646408 Affinity Capture-Western
FBXW7NOTCH111091311425854 17646408 Affinity Capture-Western
LEF1NOTCH111091311604490 Reconstituted Complex
LEF1NOTCH111935411604490 Reconstituted Complex
UBCNOTCH111091311777909 17575125 17646408 18628966 Affinity Capture-Western
UBCNOTCH111316411777909 17575125 17646408 18628966 Affinity Capture-Western
NOVNOTCH111091312050162 Affinity Capture-Western; Reconstituted Complex
NOVNOTCH111091812050162 Affinity Capture-Western; Reconstituted Complex
MAML3NOTCH111091312370315 Two-hybrid
MAML3NOTCH112070412370315 Two-hybrid
MAML2NOTCH111091312370315 Two-hybrid
MAML2NOTCH112408012370315 Two-hybrid
YY1NOTCH111091312913000 Affinity Capture-Western; Reconstituted Complex
YY1NOTCH111336012913000 Affinity Capture-Western; Reconstituted Complex
PIK3CANOTCH111091314583609 Affinity Capture-Western
PIK3CANOTCH111130814583609 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
NOTCH1rs11145770, rs2229974, rs3013311, rs3124599, rs3124602, rs3124603, rs3812603, rs3812609, rs4489420, rs6563, rs710411 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:97363
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-990415-173'