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Notch3 notch 3 [ Mus musculus (house mouse) ]

Gene ID: 18131, updated on 8-Feb-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 and positive regulation of smooth muscle cell proliferation. Acts upstream of or within several processes, including blood vessel 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, Apr 2022]
Expression
Broad expression in lung adult (RPKM 45.0), mammary gland adult (RPKM 29.4) and 20 other tissues See more
Orthologs
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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 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
 
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 cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
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 multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
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 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
 
involved_in regulation of developmental process IEA
Inferred from Electronic Annotation
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 membrane IEA
Inferred from Electronic Annotation
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 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)

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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)