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    NOTCH1 notch receptor 1 [ Homo sapiens (human) ]

    Gene ID: 4851, updated on 11-Jun-2025
    Official Symbol
    NOTCH1provided by HGNC
    Official Full Name
    notch receptor 1provided by HGNC
    Primary source
    HGNC:HGNC:7881
    See related
    Ensembl:ENSG00000148400 MIM:190198; AllianceGenome:HGNC:7881
    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]
    Expression
    Ubiquitous expression in fat (RPKM 9.4), spleen (RPKM 9.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table
    See NOTCH1 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136494433..136546048, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (148723532..148777907, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139388885..139440500, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139330456-139330964 Neighboring gene hESC enhancers GRCh37_chr9:139332501-139333134 to GRCh37_chr9:139333770-139334403 Neighboring gene inositol polyphosphate-5-phosphatase E Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:139342099-139343298 Neighboring gene SEC16 homolog A, endoplasmic reticulum export factor Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:139376640-139377385 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139378131-139378875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20524 Neighboring gene chromosome 9 putative open reading frame 163 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:139392592-139393791 Neighboring gene uncharacterized LOC124902310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139420763-139421634 Neighboring gene microRNA 4673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29311 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139433302-139433969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139434130-139434814 Neighboring gene Sharpr-MPRA regulatory region 6589 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139436183-139436865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20527 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20529 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139441357-139442268 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:139444236-139445435 Neighboring gene microRNA 4674 Neighboring gene NOTCH1 associated lncRNA in T cell acute lymphoblastic leukemia 1

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Associated conditions

    Description Tests
    Adams-Oliver syndrome 5
    MedGen: C4014970 OMIM: 616028 GeneReviews: Not available
    Compare labs
    Aortic valve disease 1
    MedGen: C3887892 OMIM: 109730 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2024-09-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2024-09-24)

    ClinGen Genome Curation PagePubMed

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CD3/CD28-activated primary CD4+ T cells downregulates plasma membrane expression of NOTCH1 PubMed
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of NOTCH1 PubMed

    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
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with NOTCH1; predicted interaction to be relevant to viral egress at plasma membrane/extracellular matrix PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Notch binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables enzyme inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription coactivator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables transcription coactivator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables transcription regulator activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmembrane signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmembrane signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in Notch signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in Notch signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in Notch signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in Notch signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T-helper 17 type immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in animal organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in aortic valve morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in aortic valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in aortic valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in aortic valve morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    acts_upstream_of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within apoptotic process involved in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in arterial endothelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in arterial endothelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in astrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in atrioventricular node development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in atrioventricular valve morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in atrioventricular valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within auditory receptor cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within branching morphogenesis of an epithelial tube IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of calcium-ion regulated exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac atrium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac atrium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac chamber formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac chamber formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac epithelial to mesenchymal transition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac left ventricle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac left ventricle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac muscle cell myoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle cell myoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle tissue morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle tissue morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac right atrium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac right atrium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within cardiac right ventricle formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac septum morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac vascular smooth muscle cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac vascular smooth muscle cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac ventricle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac ventricle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation in spinal cord IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell migration involved in endocardial cushion formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell migration involved in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to follicle-stimulating hormone stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hypoxia ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to tumor cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to tumor cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to vascular endothelial growth factor stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of central nervous system neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chemical synaptic transmission, postsynaptic IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in collecting duct development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within compartment pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in coronary artery morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in coronary artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in coronary sinus valve morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in coronary vein morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in coronary vein morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in determination of left/right symmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in distal tubule development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocardial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocardial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within endocardial cushion development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocardial cushion morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endocardium development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocardium development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endocardium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within endoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within epidermal cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within epidermis development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within epithelial cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within epithelial to mesenchymal transition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epithelial to mesenchymal transition involved in endocardial cushion formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial to mesenchymal transition involved in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within forebrain development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within foregut morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glomerular mesangial cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in growth involved in heart morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in growth involved in heart morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within hair follicle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart trabecula morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart trabecula morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homeostasis of number of cells within a tissue ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within humoral immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within inflammatory response to antigenic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within inhibition of neuroepithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in interleukin-17-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in left/right axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within liver development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within lung development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in luteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesenchymal cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesenchymal cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mitral valve formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of anoikis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of biomineral tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of biomineral tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within negative regulation of calcium ion-dependent exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cardiac muscle cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cardiac muscle hypertrophy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cardiac muscle hypertrophy ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of catalytic activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell adhesion molecule production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell migration involved in sprouting angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell proliferation involved in heart valve morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell proliferation involved in heart valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell-cell adhesion mediated by cadherin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell-substrate adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cold-induced thermogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of collagen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of endothelial cell chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of extracellular matrix constituent secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of extracellular matrix constituent secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of glial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within negative regulation of inner ear auditory receptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of myoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of myotube differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neurogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neurogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of oligodendrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of ossification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within negative regulation of photoreceptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of pro-B cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of pro-B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within negative regulation of programmed cell death IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within neural tube development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of neuroendocrine cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within neuron fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuronal stem cell population maintenance IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    acts_upstream_of_or_within oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in outflow tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pericardium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pericardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within positive regulation of Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of Ras protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of Ras protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within positive regulation of aorta morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of apoptotic process involved in morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of apoptotic process involved in morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of astrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of astrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cardiac epithelial to mesenchymal transition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cardiac epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cardiac muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cardiac muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of endothelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of epithelial to mesenchymal transition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within positive regulation of keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of receptor signaling pathway via JAK-STAT IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of receptor signaling pathway via JAK-STAT ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of smooth muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of smooth muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within positive regulation of transcription of Notch receptor target IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription of Notch receptor target IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription of Notch receptor target ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of viral genome replication IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within prostate gland epithelium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein import into nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pulmonary valve morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pulmonary valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pulmonary valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated transcription TAS
    Traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_or_within regulation of Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cardioblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell adhesion involved in heart morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of developmental process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of epithelial cell proliferation involved in prostate gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of extracellular matrix assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of extracellular matrix assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of inner ear auditory receptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of neurogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to muramyl dipeptide IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of retinal cone cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within somatic stem cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within sprouting angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tissue regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tube formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vasculogenesis involved in coronary vascular morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vasculogenesis involved in coronary vascular morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within venous blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in venous endothelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in venous endothelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular septum morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ventricular trabecula myocardium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular trabecula myocardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    part_of MAML1-RBP-Jkappa- ICN1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in adherens junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in adherens junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell periphery IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in postsynaptic density membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    neurogenic locus notch homolog protein 1
    Names
    Notch homolog 1, translocation-associated
    notch 1
    translocation-associated notch protein TAN-1

    NEW Try the new Transcript table

    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
      4739..56354
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1122

    mRNA and Protein(s)

    1. NM_017617.5NP_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, AL354671, AL592301, CN431067, DA324222, R42303
      Consensus CDS
      CCDS43905.1
      UniProtKB/Swiss-Prot
      P46531, Q59ED8, Q5SXM3
      UniProtKB/TrEMBL
      A0A7P0T8U6
      Related
      ENSP00000498587.1, ENST00000651671.1
      Conserved Domains (11) summary
      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 ...
      pfam00008
      Location:10631093
      EGF; EGF-like domain
      pfam00066
      Location:14871522
      Notch; LNR domain
      pfam06816
      Location:15671618
      NOD; NOTCH protein
      pfam07684
      Location:16721729
      NODP; NOTCH protein
      pfam11235
      Location:24292514
      Med25_SD1; Mediator complex subunit 25 synapsin 1
      pfam11936
      Location:24792540
      DUF3454; Domain of unknown function (DUF3454)
      pfam12796
      Location:19322025
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:18801925
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      136494433..136546048 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518717.3XP_011517019.2  neurogenic locus notch homolog protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T8U6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      148723532..148777907 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363009.1XP_054218984.1  neurogenic locus notch homolog protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T8U6