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    Notch3 notch 3 [ Mus musculus (house mouse) ]

    Gene ID: 18131, updated on 9-Dec-2024

    Summary

    Official Symbol
    Notch3provided by MGI
    Official Full Name
    notch 3provided by MGI
    Primary source
    MGI:MGI:99460
    See related
    Ensembl:ENSMUSG00000038146 AllianceGenome:MGI:99460
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    N3; hpbk
    Summary
    Enables enzyme binding activity. Involved in Notch signaling pathway; glomerular capillary formation; and positive regulation of smooth muscle cell proliferation. Acts upstream of or within several processes, including artery morphogenesis; nervous system development; and regulation of transcription by RNA polymerase II. Located in nucleus and plasma membrane. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and sensory organ. Used to study CADASIL 1 and acute lymphoblastic leukemia. Human ortholog(s) of this gene implicated in CADASIL 1; infantile myofibromatosis; and lateral meningocele syndrome. Orthologous to human NOTCH3 (notch receptor 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in lung adult (RPKM 45.0), mammary gland adult (RPKM 29.4) and 20 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Notch3 in Genome Data Viewer
    Location:
    17 B1; 17 17.37 cM
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (32339794..32385869, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (32120820..32166896, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene pyridoxal (pyridoxine, vitamin B6) kinase, pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E4204 Neighboring gene predicted gene, 30729 Neighboring gene predicted gene, 38585 Neighboring gene predicted gene, 41568 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:32301287-32301488 Neighboring gene VISTA enhancer mm1733 Neighboring gene epoxide hydrolase 3 Neighboring gene bromodomain containing 4 Neighboring gene predicted gene 4432

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables signaling receptor activity ISS
    Inferred from Sequence or Structural Similarity
    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 IC
    Inferred by Curator
    more info
    PubMed 
    involved_in Notch signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Notch signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within artery morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within forebrain development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in glomerular capillary formation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of neuroblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuron fate commitment IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of miRNA transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of miRNA transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of smooth muscle cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    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
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of receptor complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 

    General protein information

    Preferred Names
    neurogenic locus notch homolog protein 3

    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.

    mRNA and Protein(s)

    1. NM_008716.3NP_032742.1  neurogenic locus notch homolog protein 3 precursor

      See identical proteins and their annotated locations for NP_032742.1

      Status: VALIDATED

      Source sequence(s)
      CT033755, CT033797
      Consensus CDS
      CCDS28614.1
      UniProtKB/Swiss-Prot
      Q61982
      Related
      ENSMUSP00000085016.4, ENSMUST00000087723.5
      Conserved Domains (12) summary
      smart00004
      Location:14221459
      NL; Domain found in Notch and Lin-12
      COG0666
      Location:17781894
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00054
      Location:159196
      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:18671993
      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:14751501
      Notch; LNR domain
      pfam06816
      Location:15091558
      NOD; NOTCH protein
      pfam07684
      Location:15791638
      NODP; NOTCH protein
      pfam11936
      Location:22122274
      DUF3454; Domain of unknown function (DUF3454)
      pfam12796
      Location:19112003
      Ank_2; Ankyrin repeats (3 copies)
      pfam13857
      Location:18591914
      Ank_5; Ankyrin repeats (many copies)
      pfam15822
      Location:20522298
      MISS; MAPK-interacting and spindle-stabilizing protein-like
      sd00045
      Location:19061937
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      32339794..32385869 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017317293.2XP_017172782.1  neurogenic locus notch homolog protein 3 isoform X1

      Conserved Domains (9) summary
      smart00004
      Location:14221459
      NL; Domain found in Notch and Lin-12
      PHA03247
      Location:20402327
      PHA03247; large tegument protein UL36; Provisional
      COG0666
      Location:18712037
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00054
      Location:159196
      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 ...
      sd00045
      Location:19181949
      ANK; ANK repeat [structural motif]
      pfam00066
      Location:14751501
      Notch; LNR domain
      pfam06816
      Location:15061558
      NOD; NOTCH protein
      pfam07684
      Location:15791634
      NODP; NOTCH protein
      pfam11936
      Location:22242286
      DUF3454; Domain of unknown function (DUF3454)
    2. XM_030249555.2XP_030105415.1  neurogenic locus notch homolog protein 3 isoform X2

      Conserved Domains (10) summary
      smart00004
      Location:10801117
      NL; Domain found in Notch and Lin-12
      PHA03247
      Location:16981985
      PHA03247; large tegument protein UL36; Provisional
      COG0666
      Location:15291695
      ANKYR; Ankyrin repeat [Signal transduction mechanisms]
      cd00054
      Location:469505
      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 ...
      sd00045
      Location:15761607
      ANK; ANK repeat [structural motif]
      pfam00066
      Location:11331159
      Notch; LNR domain
      pfam01414
      Location:406466
      DSL; Delta serrate ligand
      pfam06816
      Location:11641216
      NOD; NOTCH protein
      pfam07684
      Location:12371292
      NODP; NOTCH protein
      pfam11936
      Location:18821944
      DUF3454; Domain of unknown function (DUF3454)