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    NOTCH1 notch 1 [ Homo sapiens (human) ]

    Gene ID: 4851, updated on 16-Aug-2016
    Official Symbol
    NOTCH1provided by HGNC
    Official Full Name
    notch 1provided by HGNC
    Primary source
    HGNC:HGNC:7881
    See related
    Ensembl:ENSG00000148400 HPRD:01827; MIM:190198; Vega:OTTHUMG00000020935
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    hN1; AOS5; TAN1; AOVD1
    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]
    Orthologs
    Location:
    9q34.3
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (136494433..136545786, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139388896..139440238, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene inositol polyphosphate-5-phosphatase E Neighboring gene SEC16 homolog A, endoplasmic reticulum export factor Neighboring gene chromosome 9 open reading frame 163 Neighboring gene microRNA 4673 Neighboring gene microRNA 4674 Neighboring gene NOTCH1 associated lncRNA in T-cell acute lymphoblastic leukemia 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of notch 1 (NOTCH1) in human B cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystem (from REACTOME)
      Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystemMature NOTCH1 heterodimer on the cell surface is activated by one of its ligands: DLL1 (Cordle et al. 2008, Jarriault et al. 1998), DLL4 (Benedito et al. 2009), JAG1 (Li et al. 1998, Benedito et al. ...
    • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
      Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
    • Constitutive Signaling by NOTCH1 HD Domain Mutants, organism-specific biosystem (from REACTOME)
      Constitutive Signaling by NOTCH1 HD Domain Mutants, organism-specific biosystemThe heterodimerization (HD) domain of NOTCH1, responsible for association of NOTCH1 extracellular and transmembrane regions after furin-mediated cleavage of NOTCH1 precursor, is one of the hotspots f...
    • Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystem (from REACTOME)
      Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystemWhen found in cis, HD and PEST domain mutations act synergistically, increasing NOTCH1 transcriptional activity up to ~40-fold, compared with up to ~10-fold and up to ~2-fold increase with HD mutatio...
    • Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystem (from REACTOME)
      Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystemAs NOTCH1 PEST domain is intracellular, NOTCH1 PEST domain mutants are expected to behave as the wild-type NOTCH1 with respect to ligand binding and proteolytic cleavage mediated activation of signal...
    • Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystem (from REACTOME)
      Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystemNOTCH1 t(7;9)(NOTCH1:M1580_K2555) mutant is expressed in a small subset of T-cell acute lymphoblastic leukemia (T-ALL) patients. This mutant protein results from a translocation that joins a portion ...
    • Defective LFNG causes SCDO3, organism-specific biosystem (from REACTOME)
      Defective LFNG causes SCDO3, organism-specific biosystemThe Fringe family (CAZy family GT31) of glycosyltransferases in mammals includes LFNG (lunatic fringe; MIM:602576), MFNG (manic fringe; MIM:602577) and RFNG (radical fringe; MIM:602578). Fringe enzym...
    • Delta-Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Delta-Notch Signaling Pathway, organism-specific biosystemThere are 4 Notch receptors in humans (Notch 1-4) that bind to a family of 5 ligands (Jagged 1 and 2 and Delta-like 1-3). The Notch receptors are expressed on the cell surface as heterodimeric protei...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
      Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
    • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
      Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
    • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
      Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
    • Dorso-ventral axis formation, organism-specific biosystem (from KEGG)
      Dorso-ventral axis formation, organism-specific biosystem
      Dorso-ventral axis formation
    • Dorso-ventral axis formation, conserved biosystem (from KEGG)
      Dorso-ventral axis formation, conserved biosystem
      Dorso-ventral axis formation
    • FBXW7 Mutants and NOTCH1 in Cancer, organism-specific biosystem (from REACTOME)
      FBXW7 Mutants and NOTCH1 in Cancer, organism-specific biosystemFBXW7 (FBW7) is a component of the SCF (SKP1, CUL1, and F-box protein) ubiquitin ligase complex SCF-FBW7 which is involved in the degradation of NOTCH1 (Oberg et al. 2001, Wu et al. 2001, Fryer et al...
    • Gastric cancer network 1, organism-specific biosystem (from WikiPathways)
      Gastric cancer network 1, organism-specific biosystemNetwork generated by mapping candidate oncogenes and tumor suppressor genes identified by integrated analysis of expression array and aCGH data. Networks generated by Ingenuity Pathway Analysis.
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Heart Development, organism-specific biosystem (from WikiPathways)
      Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
    • Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling, organism-specific biosystem (from REACTOME)
      Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling, organism-specific biosystemLoss of function mutations found in FBXW7 in T-cell acute lymphoblastic leukemia are predominantly dominant negative missense mutations that target one of the three highly conserved arginine residues...
    • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
      MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
    • MicroRNAs in cancer, conserved biosystem (from KEGG)
      MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
    • NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystem (from REACTOME)
      NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystemNICD1 produced by activation of NOTCH1 in response to Delta and Jagged ligands (DLL/JAG) presented in trans, traffics to the nucleus where it acts as a transcription regulator. In the nucleus, NICD1 ...
    • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
      Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
    • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Notch Signaling Pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch signaling, organism-specific biosystem (from KEGG)
      Notch signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • Notch signaling, conserved biosystem (from KEGG)
      Notch signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • Notch signaling pathway, organism-specific biosystem (from KEGG)
      Notch signaling pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Notch signaling pathway, organism-specific biosystem
      Notch signaling pathway
    • Notch signaling pathway, conserved biosystem (from KEGG)
      Notch signaling pathway, conserved biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch-HLH transcription pathway, organism-specific biosystem (from REACTOME)
      Notch-HLH transcription pathway, organism-specific biosystemTHE NOTCH-HLH TRANSCRIPTION PATHWAY: Notch signaling was first identified in Drosophila, where it has been studied in detail at the genetic, molecular, biochemical and cellular levels (reviewed in ...
    • Notch-mediated HES/HEY network, organism-specific biosystem (from Pathway Interaction Database)
      Notch-mediated HES/HEY network, organism-specific biosystem
      Notch-mediated HES/HEY network
    • Pre-NOTCH Expression and Processing, organism-specific biosystem (from REACTOME)
      Pre-NOTCH Expression and Processing, organism-specific biosystemIn humans and other mammals the NOTCH gene family has four members, NOTCH1, NOTCH2, NOTCH3 and NOTCH4, encoded on four different chromosomes. Their transcription is developmentally regulated and tiss...
    • Pre-NOTCH Processing in Golgi, organism-specific biosystem (from REACTOME)
      Pre-NOTCH Processing in Golgi, organism-specific biosystemNOTCH undergoes final posttranslational processing in the Golgi apparatus (Lardelli et al. 1994, Blaumueller et al. 1997, Weinmaster et al. 1991, Weinmaster et al. 1992, Uyttendaele et al. 1996). Mov...
    • Pre-NOTCH Processing in the Endoplasmic Reticulum, organism-specific biosystem (from REACTOME)
      Pre-NOTCH Processing in the Endoplasmic Reticulum, organism-specific biosystemIn the endoplasmic reticulum, glycosyl transferases modify NOTCH precursors by glycosylating conserved serine and threonine residues in EGF repeats of NOTCH. O-fucosyl transferase POFUT1 fucosylates...
    • Pre-NOTCH Transcription and Translation, organism-specific biosystem (from REACTOME)
      Pre-NOTCH Transcription and Translation, organism-specific biosystemIn humans, the NOTCH protein family has four members: NOTCH1, NOTCH2, NOTCH3 and NOTCH4. NOTCH1 protein was identified first, as the product of a chromosome 9 gene translocated in T-cell acute lympho...
    • Presenilin action in Notch and Wnt signaling, organism-specific biosystem (from Pathway Interaction Database)
      Presenilin action in Notch and Wnt signaling, organism-specific biosystem
      Presenilin action in Notch and Wnt signaling
    • Prion diseases, organism-specific biosystem (from KEGG)
      Prion diseases, organism-specific biosystemPrion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of ...
    • Prion diseases, conserved biosystem (from KEGG)
      Prion diseases, conserved biosystemPrion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of ...
    • Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
      Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
    • Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells, organism-specific biosystem (from REACTOME)
      Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells, organism-specific biosystemThe properties of transcriptional networks in late stage (branching morphogenesis) pancreatic bud precursor cells are inferred from the properties of well-studied networks in mouse models. In mice, c...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
    • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...
    • Signaling by NOTCH1 HD Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 HD Domain Mutants in Cancer, organism-specific biosystemNOTCH1 heterodimerization domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL) (Weng et al. 2004) and result in constitutive activity of NOTCH1 mutants (Malecki et al....
    • Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystemMutations in the heterodimerization domain (HD) and PEST domain of NOTCH1 are frequently found in cis in T-cell acute lymphoblastic leukemia. While HD mutations alone result in up to ~10-fold increas...
    • Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystemNOTCH1 PEST domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL). PEST domain mutations interfere with ubiquitination-mediated NOTCH1 downregulation and result in prol...
    • Signaling by NOTCH1 in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 in Cancer, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). This tra...
    • Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). The tran...
    • Thyroid hormone signaling pathway, organism-specific biosystem (from KEGG)
      Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Notch binding IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    core promoter binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enzyme binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enzyme inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcriptional activator activity, RNA polymerase II transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    Notch signaling involved in heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Notch signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Notch signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    aortic valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    apoptotic process involved in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    arterial endothelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    astrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    atrioventricular node development IEA
    Inferred from Electronic Annotation
    more info
     
    atrioventricular valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    auditory receptor cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    branching morphogenesis of an epithelial tube IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac atrium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac chamber formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac left ventricle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac right atrium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac right ventricle formation IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac vascular smooth muscle cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac ventricle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell differentiation in spinal cord IEA
    Inferred from Electronic Annotation
    more info
     
    cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    cell migration involved in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to follicle-stimulating hormone stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to vascular endothelial growth factor stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cilium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    collecting duct development IEA
    Inferred from Electronic Annotation
    more info
     
    compartment pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    coronary artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    coronary vein morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    determination of left/right symmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    distal tubule development IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    endocardial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endocardium development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endocardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epithelial to mesenchymal transition involved in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    forebrain development IEA
    Inferred from Electronic Annotation
    more info
     
    foregut morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    glomerular mesangial cell development IEA
    Inferred from Electronic Annotation
    more info
     
    growth involved in heart morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hair follicle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart trabecula morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    humoral immune response IEA
    Inferred from Electronic Annotation
    more info
     
    immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    inflammatory response to antigenic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    interleukin-4 secretion IEA
    Inferred from Electronic Annotation
    more info
     
    keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    left/right axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    liver development IEA
    Inferred from Electronic Annotation
    more info
     
    lung development IEA
    Inferred from Electronic Annotation
    more info
     
    mesenchymal cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitral valve formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of anoikis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of auditory receptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of calcium ion-dependent exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of catalytic activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell migration involved in sprouting angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell-substrate adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of endothelial cell chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of glial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of myoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of myotube differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of neurogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of oligodendrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of ossification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of photoreceptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of pro-B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neural tube development IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal stem cell population maintenance IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    pericardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of JAK-STAT cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of astrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cardiac muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of endothelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription from RNA polymerase II promoter in response to hypoxia ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription of Notch receptor target ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of viral genome replication IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of viral transcription IEA
    Inferred from Electronic Annotation
    more info
     
    prostate gland epithelium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    pulmonary valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of epithelial cell proliferation involved in prostate gland development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of extracellular matrix assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of transcription, DNA-templated TAS
    Traceable Author Statement
    more info
    PubMed 
    response to corticosteroid IEA
    Inferred from Electronic Annotation
    more info
     
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    response to muramyl dipeptide IEA
    Inferred from Electronic Annotation
    more info
     
    secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    somatic stem cell division IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    sprouting angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    tissue regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    transcription initiation from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    tube formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    vasculogenesis involved in coronary vascular morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    venous endothelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ventricular septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ventricular trabecula myocardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    MAML1-RBP-Jkappa- ICN1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    adherens junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    neurogenic locus notch homolog protein 1
    Names
    Notch homolog 1, translocation-associated
    translocation-associated notch protein TAN-1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007458.1 RefSeqGene

      Range
      5001..56354
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017617.4NP_060087.3  neurogenic locus notch homolog protein 1 preproprotein

      See identical proteins and their annotated locations for NP_060087.3

      Status: REVIEWED

      Source sequence(s)
      AB209873, AF308602, AL592301, CN431067, DA324222, R42303
      Consensus CDS
      CCDS43905.1
      UniProtKB/Swiss-Prot
      P46531
      Related
      ENSP00000277541, OTTHUMP00000022594, ENST00000277541, OTTHUMT00000055087
      Conserved Domains (10) summary
      pfam06816
      Location:15661621
      NOD; NOTCH protein
      smart00004
      Location:14421479
      NL; Domain found in Notch and Lin-12
      cd00054
      Location:869905
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00204
      Location:19222034
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam00066
      Location:14851522
      Notch; LNR domain
      pfam06247
      Location:12411397
      Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28
      pfam07684
      Location:16701731
      NODP; NOTCH protein
      pfam11936
      Location:24802541
      DUF3454; Domain of unknown function (DUF3454)
      pfam12796
      Location:19322025
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:20632113
      Ank_4; Ankyrin repeats (many copies)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      136494433..136545786 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518717.2XP_011517019.2  

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      139537619..139588846 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)