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    NOTCH1 notch receptor 1 [ Homo sapiens (human) ]

    Gene ID: 4851, updated on 26-Jul-2021

    Summary

    Official Symbol
    NOTCH1provided by HGNC
    Official Full Name
    notch receptor 1provided by HGNC
    Primary source
    HGNC:HGNC:7881
    See related
    Ensembl:ENSG00000148400 MIM:190198
    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

    Genomic context

    See NOTCH1 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (136494433..136546048, complement)
    105.20201022 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 inositol polyphosphate-5-phosphatase E Neighboring gene SEC16 homolog A, endoplasmic reticulum export factor Neighboring gene chromosome 9 putative open reading frame 163 Neighboring gene microRNA 4673 Neighboring gene microRNA 4674 Neighboring gene NOTCH1 associated lncRNA in T cell acute lymphoblastic leukemia 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    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 enzyme binding ISS
    Inferred from Sequence or Structural Similarity
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coactivator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables transmembrane signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in Notch signaling involved in heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in Notch signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Notch signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in Notch signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in 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 animal organ regeneration 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 
    involved_in apoptotic process involved in embryonic digit morphogenesis 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in 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
    PubMed 
    involved_in branching morphogenesis of an epithelial tube 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac left ventricle morphogenesis 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac right atrium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac right ventricle formation 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac ventricle morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell differentiation in spinal cord IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell fate specification 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
     
    involved_in cellular response to follicle-stimulating hormone stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to vascular endothelial growth factor stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    involved_in compartment pattern specification 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 ISS
    Inferred from Sequence or Structural Similarity
    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
     
    involved_in embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocardial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endocardial cushion morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endocardium development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endocardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endoderm development 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in forebrain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in foregut morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in 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 ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in humoral immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response to antigenic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in interleukin-17-mediated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in left/right axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung 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 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of calcium ion-dependent exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of canonical Wnt signaling pathway 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 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of endothelial cell chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of growth rate IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of neurogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of oligodendrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of ossification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of photoreceptor 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
     
    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 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
     
    involved_in negative regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neural tube development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuronal stem cell population maintenance IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of BMP signaling pathway 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 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 aorta 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 ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    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
     
    involved_in positive regulation of epithelial cell proliferation 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 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription from RNA polymerase II promoter in response to hypoxia ISS
    Inferred from Sequence or Structural Similarity
    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 transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of viral genome replication IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in 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 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 cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of epithelial cell proliferation involved in prostate gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of extracellular matrix assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of transcription, DNA-templated TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to corticosteroid IEA
    Inferred from Electronic Annotation
    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
     
    involved_in secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in somatic stem cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sprouting angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tissue regeneration 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in venous endothelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ventricular trabecula myocardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    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 
    located_in acrosomal vesicle 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    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
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    neurogenic locus notch homolog protein 1
    Names
    Notch homolog 1, translocation-associated
    notch 1
    translocation-associated notch protein TAN-1

    NCBI Reference Sequences (RefSeq)

    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
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

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

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