NOTCH1 - Neurogenic locus notch homolog protein 1 - human protein (Function)
 
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NOTCH1 »  Neurogenic locus notch homolog protein 1  (Notch 1)
 
Protein also known as:  Translocation-associated notch protein TAN-1. Cleaved into:  Notch 1 extracellular truncation; Notch 1 intracellular domain.
Gene name:  NOTCH1
Family name: NOTCH
Entry whose protein(s) existence is based on evidence at protein level
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1 718 1
GENE REF ISO

Function

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Overview 
Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Involved in the maturation of both CD4+ and CD8+ cells in the thymus. Important for follicular differentiation and possibly cell fate selection within the follicle. During cerebellar development, functions as a receptor for neuronal DNER and is involved in the differentiation of Bergmann glia. Represses neuronal and myogenic differentiation. May play an essential role in postimplantation development, probably in some aspect of cell specification and/or differentiation. May be involved in mesoderm development, somite formation and neurogenesis. May enhance HIF1A function by sequestering HIF1AN away from HIF1A. Required for the THBS4 function in regulating protective astrogenesis from the subventricular zone (SVZ) niche after injury. Involved in determination of left/right symmetry by modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO).  
2
  • UniProtKB
GO molecular function 
Calcium ion bindingdefinition[GO:0005509] silver  
1
  • InterPro 2 GO
Chromatin DNA bindingdefinition[GO:0031490] silver  
1
  • Ortholog Compara
Core promoter bindingdefinition[GO:0001047]  
1
  • Ortholog Curator
Enzyme bindingdefinition[GO:0019899]  
1
  • Ortholog Curator
Enzyme inhibitor activitydefinition[GO:0004857]  
1
  • Ortholog Curator
Protein bindingdefinition[GO:0005515]  
9
  • IntAct
  • UniProtKB
Receptor activitydefinition[GO:0004872] silver  
1
  • InterPro 2 GO
RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcriptiondefinition[GO:0001190]  
1
  • Ortholog Curator
Sequence-specific DNA bindingdefinition[GO:0043565] silver  
1
  • Ortholog Compara
Sequence-specific DNA binding transcription factor activitydefinition[GO:0003700] silver  
1
  • Ortholog Compara
GO biological process 
Aortic valve morphogenesisdefinition[GO:0003180]  
2
  • BHF-UCL
Apoptotic process involved in embryonic digit morphogenesisdefinition[GO:1902263] silver  
1
  • Ortholog Compara
Arterial endothelial cell differentiationdefinition[GO:0060842]  
1
  • Ortholog Curator
Astrocyte differentiationdefinition[GO:0048708] silver  
1
  • Ortholog Compara
Atrioventricular node developmentdefinition[GO:0003162] silver  
1
  • Ortholog Compara
Atrioventricular valve morphogenesisdefinition[GO:0003181]  
1
  • Ortholog Curator
Auditory receptor cell fate commitmentdefinition[GO:0009912] silver  
1
  • Ortholog Compara
Axonogenesisdefinition[GO:0007409] silver  
1
  • Ortholog Compara
Branching morphogenesis of an epithelial tubedefinition[GO:0048754] silver  
1
  • Ortholog Compara
Cardiac atrium morphogenesisdefinition[GO:0003209]  
1
  • Ortholog Curator
Cardiac chamber formationdefinition[GO:0003207]  
1
  • Ortholog Curator
Cardiac epithelial to mesenchymal transitiondefinition[GO:0060317]  
1
  • Ortholog Curator
Cardiac left ventricle morphogenesisdefinition[GO:0003214]  
1
  • Ortholog Curator
Cardiac muscle cell proliferationdefinition[GO:0060038] silver  
1
  • Ortholog Compara
Cardiac muscle tissue morphogenesisdefinition[GO:0055008]  
1
  • Ortholog Curator
Cardiac right atrium morphogenesisdefinition[GO:0003213]  
1
  • Ortholog Curator
Cardiac right ventricle formationdefinition[GO:0003219] silver  
1
  • Ortholog Compara
Cardiac septum morphogenesisdefinition[GO:0060411]  
1
  • Ortholog Curator
Cardiac vascular smooth muscle cell developmentdefinition[GO:0060948]  
1
  • Ortholog Curator
Cardiac ventricle morphogenesisdefinition[GO:0003208]  
1
  • Ortholog Curator
Cell differentiation in spinal corddefinition[GO:0021515] silver  
1
  • Ortholog Compara
Cell fate specificationdefinition[GO:0001708] silver  
1
  • Ortholog Compara
Cell migration involved in endocardial cushion formationdefinition[GO:0003273]  
1
  • Ortholog Curator
Cellular response to follicle-stimulating hormone stimulusdefinition[GO:0071372]  
1
  • BHF-UCL
Cellular response to vascular endothelial growth factor stimulusdefinition[GO:0035924]  
1
  • UniProtKB
Cilium morphogenesisdefinition[GO:0060271]  
1
  • Ortholog Curator
Collecting duct developmentdefinition[GO:0072044] silver  
1
  • Ortholog Compara
Compartment pattern specificationdefinition[GO:0007386] silver  
1
  • Ortholog Compara
Coronary artery morphogenesisdefinition[GO:0060982]  
1
  • Ortholog Curator
Coronary vein morphogenesisdefinition[GO:0003169]  
1
  • Ortholog Curator
Determination of left/right symmetrydefinition[GO:0007368]  
1
  • Ortholog Curator
Distal tubule developmentdefinition[GO:0072017] silver  
1
  • Ortholog Compara
Embryonic hindlimb morphogenesisdefinition[GO:0035116] silver  
1
  • Ortholog Compara
Endocardial cell differentiationdefinition[GO:0060956]  
1
  • Ortholog Curator
Endocardial cushion morphogenesisdefinition[GO:0003203]  
1
  • Ortholog Curator
Endocardium developmentdefinition[GO:0003157]  
1
  • Ortholog Curator
Endocardium morphogenesisdefinition[GO:0003160]  
1
  • Ortholog Curator
Endoderm developmentdefinition[GO:0007492] silver  
1
  • Ortholog Compara
Epithelial to mesenchymal transitiondefinition[GO:0001837]  
1
  • Ortholog Curator
Epithelial to mesenchymal transition involved in endocardial cushion formationdefinition[GO:0003198]  
1
  • Ortholog Curator
Forebrain developmentdefinition[GO:0030900] silver  
1
  • Ortholog Compara
Foregut morphogenesisdefinition[GO:0007440] silver  
1
  • Ortholog Compara
Glomerular mesangial cell developmentdefinition[GO:0072144] silver  
1
  • Ortholog Compara
Growth involved in heart morphogenesisdefinition[GO:0003241]  
1
  • Ortholog Curator
Hair follicle morphogenesisdefinition[GO:0031069] silver  
1
  • Ortholog Compara
Heart developmentdefinition[GO:0007507]  
1
  • DFLAT
Heart loopingdefinition[GO:0001947]  
1
  • Ortholog Curator
Heart trabecula morphogenesisdefinition[GO:0061384]  
1
  • Ortholog Curator
Humoral immune responsedefinition[GO:0006959] silver  
1
  • Ortholog Compara
Immune responsedefinition[GO:0006955]  
1
  • UniProtKB
In utero embryonic developmentdefinition[GO:0001701] silver  
1
  • Ortholog Compara
Inflammatory response to antigenic stimulusdefinition[GO:0002437] silver  
1
  • Ortholog Compara
Interleukin-4 secretiondefinition[GO:0072602] silver  
1
  • Ortholog Compara
Keratinocyte differentiationdefinition[GO:0030216] silver  
1
  • Ortholog Compara
Left/right axis specificationdefinition[GO:0070986] silver  
1
  • Ortholog Compara
Liver developmentdefinition[GO:0001889] silver  
1
  • Ortholog Compara
Lung developmentdefinition[GO:0030324] silver  
1
  • Ortholog Compara
Mesenchymal cell developmentdefinition[GO:0014031]  
1
  • Ortholog Curator
Mitral valve formationdefinition[GO:0003192]  
1
  • BHF-UCL
Negative regulation of anoikisdefinition[GO:2000811]  
1
  • BHF-UCL
Negative regulation of BMP signaling pathwaydefinition[GO:0030514]  
1
  • Ortholog Curator
Negative regulation of calcium ion-dependent exocytosisdefinition[GO:0045955] silver  
1
  • Ortholog Compara
Negative regulation of canonical Wnt signaling pathwaydefinition[GO:0090090] silver  
1
  • Ortholog Compara
Negative regulation of catalytic activitydefinition[GO:0043086]  
1
  • Ortholog Curator
Negative regulation of cell migration involved in sprouting angiogenesisdefinition[GO:0090051]  
1
  • UniProtKB
Negative regulation of cell proliferationdefinition[GO:0008285]  
1
  • UniProtKB
Negative regulation of cell-substrate adhesiondefinition[GO:0010812]  
1
  • BHF-UCL
Negative regulation of endothelial cell chemotaxisdefinition[GO:2001027]  
1
  • UniProtKB
Negative regulation of glial cell proliferationdefinition[GO:0060253]  
1
  • Ortholog Curator
Negative regulation of myoblast differentiationdefinition[GO:0045662]  
1
  • UniProtKB
Negative regulation of myotube differentiationdefinition[GO:0010832]  
1
  • Ortholog Curator
Negative regulation of neurogenesisdefinition[GO:0050768]  
1
  • Ortholog Curator
Negative regulation of oligodendrocyte differentiationdefinition[GO:0048715]  
1
  • Ortholog Curator
Negative regulation of ossificationdefinition[GO:0030279]  
1
  • Ortholog Curator
Negative regulation of osteoblast differentiationdefinition[GO:0045668]  
1
  • Ortholog Curator
Negative regulation of photoreceptor cell differentiationdefinition[GO:0046533] silver  
1
  • Ortholog Compara
Negative regulation of pro-B cell differentiationdefinition[GO:2000974]  
1
  • Ortholog Curator
Negative regulation of stem cell differentiationdefinition[GO:2000737]  
1
  • UniProtKB
Negative regulation of transcription from RNA polymerase II promoterdefinition[GO:0000122]  
1
  • Ortholog Curator
Negative regulation of transcription, DNA-templateddefinition[GO:0045892]  
1
  • Ortholog Curator
Neural tube developmentdefinition[GO:0021915] silver  
1
  • Ortholog Compara
Neuronal stem cell maintenancedefinition[GO:0097150]  
1
  • UniProtKB
Notch signaling involved in heart developmentdefinition[GO:0061314]  
2
  • BHF-UCL
Notch signaling pathwaydefinition[GO:0007219]  
2
  • UniProtKB
Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferationdefinition[GO:0003270] silver  
1
  • Ortholog Compara
Oligodendrocyte differentiationdefinition[GO:0048709] silver  
1
  • Ortholog Compara
Organ regenerationdefinition[GO:0031100] silver  
1
  • Ortholog Compara
Pericardium morphogenesisdefinition[GO:0003344]  
1
  • Ortholog Curator
Positive regulation of apoptotic processdefinition[GO:0043065] silver  
1
  • Ortholog Compara
Positive regulation of astrocyte differentiationdefinition[GO:0048711]  
1
  • Ortholog Curator
Positive regulation of BMP signaling pathwaydefinition[GO:0030513]  
1
  • Ortholog Curator
Positive regulation of cardiac muscle cell proliferationdefinition[GO:0060045]  
1
  • Ortholog Curator
Positive regulation of cell migrationdefinition[GO:0030335]  
1
  • Ortholog Curator
Positive regulation of cell proliferationdefinition[GO:0008284]  
2
  • BHF-UCL
  • UniProtKB
Positive regulation of endothelial cell differentiationdefinition[GO:0045603] silver  
1
  • Ortholog Compara
Positive regulation of epithelial cell proliferationdefinition[GO:0050679] silver  
1
  • Ortholog Compara
Positive regulation of epithelial to mesenchymal transitiondefinition[GO:0010718]  
1
  • BHF-UCL
Positive regulation of JAK-STAT cascadedefinition[GO:0046427]  
1
  • Ortholog Curator
Positive regulation of keratinocyte differentiationdefinition[GO:0045618] silver  
1
  • Ortholog Compara
Positive regulation of neuroblast proliferationdefinition[GO:0002052] silver  
1
  • Ortholog Compara
Positive regulation of transcription from RNA polymerase II promoterdefinition[GO:0045944]  
2
  • UniProtKB
  • Ortholog Curator
Positive regulation of transcription from RNA polymerase II promoter in response to hypoxiadefinition[GO:0061419]  
1
  • Ortholog Curator
Positive regulation of transcription of Notch receptor targetdefinition[GO:0007221]  
1
  • Ortholog Curator
Positive regulation of transcription, DNA-templateddefinition[GO:0045893]  
1
  • Ortholog Curator
Prostate gland epithelium morphogenesisdefinition[GO:0060740] silver  
1
  • Ortholog Compara
Pulmonary valve morphogenesisdefinition[GO:0003184]  
1
  • BHF-UCL
Regulation of epithelial cell proliferation involved in prostate gland developmentdefinition[GO:0060768] silver  
1
  • Ortholog Compara
Regulation of extracellular matrix assemblydefinition[GO:1901201]  
1
  • Ortholog Curator
Regulation of somitogenesisdefinition[GO:0014807] silver  
1
  • Ortholog Compara
Regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiationdefinition[GO:0003256]  
1
  • Ortholog Curator
Regulation of transcription, DNA-templateddefinition[GO:0006355]  
1
  • UniProtKB
Response to corticosteroiddefinition[GO:0031960] silver  
1
  • Ortholog Compara
Response to lipopolysaccharidedefinition[GO:0032496] silver  
1
  • Ortholog Compara
Response to muramyl dipeptidedefinition[GO:0032495] silver  
1
  • Ortholog Compara
Secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus developmentdefinition[GO:0060528] silver  
1
  • Ortholog Compara
Skeletal muscle cell differentiationdefinition[GO:0035914] silver  
1
  • Ortholog Compara
Somatic stem cell divisiondefinition[GO:0048103] silver  
1
  • Ortholog Compara
Spermatogenesisdefinition[GO:0007283] silver  
1
  • Ortholog Compara
Sprouting angiogenesisdefinition[GO:0002040] silver  
1
  • Ortholog Compara
Tissue regenerationdefinition[GO:0042246] silver  
1
  • Ortholog Compara
Tube formationdefinition[GO:0035148]  
1
  • UniProtKB
Vasculogenesis involved in coronary vascular morphogenesisdefinition[GO:0060979]  
1
  • Ortholog Curator
Venous endothelial cell differentiationdefinition[GO:0060843]  
1
  • Ortholog Curator
Ventricular septum morphogenesisdefinition[GO:0060412]  
1
  • BHF-UCL
Ventricular trabecula myocardium morphogenesisdefinition[GO:0003222]  
1
  • Ortholog Curator
Pathways 
According to KEGG, this protein belongs to the following pathways:
Dorso-ventral axis formation  hsa04320+4851  
Notch signaling pathway  hsa04330+4851  
Prion diseases  hsa05020+4851  
According to Reactome, this protein belongs to the following pathways:
Activated NOTCH1 Transmits Signal to the Nucleus  REACT_118614  
Constitutive Signaling by NOTCH1 HD Domain Mutants  REACT_160089  
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants  REACT_160254  
Constitutive Signaling by NOTCH1 PEST Domain Mutants  REACT_160243  
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant  REACT_160106  
Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling  REACT_160305  
Notch-HLH transcription pathway  REACT_14835  
NOTCH1 Intracellular Domain Regulates Transcription  REACT_118780  
Pre-NOTCH Processing in Golgi  REACT_118798  
Pre-NOTCH Processing in the Endoplasmic Reticulum  REACT_118722  
Pre-NOTCH Transcription and Translation  REACT_118568  
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells  REACT_13673  
 

Keywords

Biological process 
Angiogenesis  definition   [KW-0037]
Differentiation  definition   [KW-0221]
Notch signaling pathway  definition   [KW-0914]
Transcription  definition   [KW-0804]
Transcription regulation  definition   [KW-0805]
Molecular function 
Activator  definition   [KW-0010]
Developmental protein  definition   [KW-0217]
Receptor  definition   [KW-0675]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

GeneWiki: Notch-1
GenomeRNAi: 4851
PRO: PR:P46531