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    Msh3 mutS homolog 3 [ Mus musculus (house mouse) ]

    Gene ID: 17686, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Msh3provided by MGI
    Official Full Name
    mutS homolog 3provided by MGI
    Primary source
    MGI:MGI:109519
    See related
    Ensembl:ENSMUSG00000014850 AllianceGenome:MGI:109519
    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
    Rep3; REP-1; Rep-3; D13Em1
    Summary
    Enables centromeric DNA binding activity and damaged DNA binding activity. Acts upstream of or within mismatch repair and somatic recombination of immunoglobulin gene segments. Predicted to be located in nucleus. Predicted to be part of MutSbeta complex. Is expressed in early conceptus; oocyte; and secondary oocyte. Human ortholog(s) of this gene implicated in colorectal carcinoma; endometrial cancer; endometrial carcinoma; familial adenomatous polyposis 4; and lung non-small cell carcinoma. Orthologous to human MSH3 (mutS homolog 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 5.6), CNS E14 (RPKM 4.6) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    13 C3; 13 47.63 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (92348387..92491515, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (92211878..92355004, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene creatine kinase, mitochondrial 2 Neighboring gene RAS protein-specific guanine nucleotide-releasing factor 2 Neighboring gene predicted gene, 46435 Neighboring gene STARR-seq mESC enhancer starr_35260 Neighboring gene STARR-seq mESC enhancer starr_35261 Neighboring gene STARR-seq mESC enhancer starr_35262 Neighboring gene STARR-positive B cell enhancer mm9_chr13:93090941-93091242 Neighboring gene predicted gene, 20379 Neighboring gene STARR-positive B cell enhancer ABC_E8539 Neighboring gene STARR-positive B cell enhancer ABC_E2416 Neighboring gene 60S ribosomal protein L32 pseudogene Neighboring gene dihydrofolate reductase Neighboring gene ankyrin repeat domain 34B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A novel quantitative trait locus implicates Msh3 in the propensity for genome-wide short tandem repeat expansions in mice. Maksimov MO, et al. Genome Res, 2023 May. PMID 37127331, Free PMC Article
    2. An Msh3 ATPase domain mutation has no effect on MMR function. Edwards Y. BMC Res Notes, 2017 Nov 25. PMID 29178930, Free PMC Article
    3. MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice. Tomé S, et al. PLoS Genet, 2013. PMID 23468640, Free PMC Article
    4. Characterization of the mouse Rep-3 gene: sequence similarities to bacterial and yeast mismatch-repair proteins. Liu K, et al. Gene, 1994 Sep 30. PMID 7926796
    5. Mutsβ generates both expansions and contractions in a mouse model of the Fragile X-associated disorders. Zhao XN, et al. Hum Mol Genet, 2015 Dec 15. PMID 26420841, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dose-dependent reduction of somatic expansions but not Htt aggregates by di-valent siRNA-mediated silencing of MSH3 in HdhQ111 mice.
      Title: Dose-dependent reduction of somatic expansions but not Htt aggregates by di-valent siRNA-mediated silencing of MSH3 in HdhQ111 mice.
    2. A novel quantitative trait locus implicates Msh3 in the propensity for genome-wide short tandem repeat expansions in mice.
      Title: A novel quantitative trait locus implicates Msh3 in the propensity for genome-wide short tandem repeat expansions in mice.
    3. Mutation of a critical residue within the ATPase domain of Msh3 did not preclude mismatch repair at the genomic sequences tested.
      Title: An Msh3 ATPase domain mutation has no effect on MMR function.
    4. MSH2-MSH3 suppresses chromosomal instability and modulates the tumor spectrum in p53-deficient tumorigenesis.
      Title: The MutSβ complex is a modulator of p53-driven tumorigenesis through its functions in both DNA double-strand break repair and mismatch repair.
    5. naturally occurring MSH3 protein polymorphisms are modifiers of CAG repeat instability, likely through variable MSH3 protein stability
      Title: MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice.
    6. Enhanced occupancy of Msh2 and Msh3 proteins downstream of the FXN expanded GAA repeat, suggesting a model in which Msh2/3 dimers are recruited to this region to repair mismatches.
      Title: The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model.
    7. Stress treatment of mouse cells with ethanol or hydrogen peroxide caused the re-distribution of MSH3 into nuclear bodies containing the proliferating cell nuclear antigen (PCNA), a known binding partner of MutSbeta.
      Title: The mouse mismatch repair protein, MSH3, is a nucleoplasmic protein that aggregates into denser nuclear bodies under conditions of stress.
    8. Frequencies and patterns in DNA mismatch repair in the context of mice deficient for Msh3.
      Title: Differing patterns of genetic instability in mice deficient in the mismatch repair genes Pms2, Mlh1, Msh2, Msh3 and Msh6.
    9. A (CTG)84 repeat was stable even in Msh3-deficient mice.
      Title: Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins.
    10. Data suggest that activation-induced cytidine deaminase has limited entry points into V and S regions in vivo, and subsequent mutation requires Msh2-Msh6, but not Msh3, and DNA polymerase.
      Title: A role for Msh6 but not Msh3 in somatic hypermutation and class switch recombination.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2)  1 citation
    • Endonuclease-mediated (3) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent DNA damage sensor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA binding IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables centromeric DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables damaged DNA binding IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    contributes_to dinucleotide insertion or deletion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    contributes_to dinucleotide repeat insertion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables double-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    contributes_to mismatched DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to single guanine insertion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    contributes_to single-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in maintenance of DNA repeat elements ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within mismatch repair IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within mismatch repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mismatch repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of DNA recombination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of helicase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    NOT acts_upstream_of_or_within somatic hypermutation of immunoglobulin genes IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in somatic recombination of immunoglobulin gene segments IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within somatic recombination of immunoglobulin gene segments IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of MutSbeta complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    DNA mismatch repair protein Msh3
    Names
    protein repair-1
    protein repair-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_001311120.2 → NP_001298049.1  DNA mismatch repair protein Msh3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC155263, AC161588
      Consensus CDS
      CCDS79222.1
      UniProtKB/TrEMBL
      B2RWY6, E9QPY6
      Related
      ENSMUSP00000022220.8, ENSMUST00000022220.13
      Conserved Domains (6) summary
      COG0249
      Location:183 → 1052
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
      pfam00488
      Location:804 → 1051
      MutS_V; MutS domain V
      pfam01624
      Location:188 → 301
      MutS_I; MutS domain I
      pfam05188
      Location:324 → 481
      MutS_II; MutS domain II
      pfam05192
      Location:498 → 613
      MutS_III; MutS domain III
      cl17822
      Location:670 → 755
      MutS_III; MutS domain III

    2. NM_010829.3 → NP_034959.2  DNA mismatch repair protein Msh3 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC155263, AC161588
      Consensus CDS
      CCDS49326.1
      UniProtKB/TrEMBL
      A0A087WQ16, B2RWY6
      Related
      ENSMUSP00000140002.2, ENSMUST00000185852.7
      Conserved Domains (6) summary
      COG0249
      Location:183 → 1053
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
      pfam00488
      Location:804 → 1052
      MutS_V; MutS domain V
      pfam01624
      Location:188 → 301
      MutS_I; MutS domain I
      pfam05188
      Location:324 → 481
      MutS_II; MutS domain II
      pfam05192
      Location:498 → 613
      MutS_III; MutS domain III
      cl17822
      Location:670 → 755
      MutS_III; MutS domain III

    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_000079.7 Reference GRCm39 C57BL/6J

      Range
      92348387..92491515 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036157896.1 → XP_036013789.1  DNA mismatch repair protein Msh3 isoform X2

      Conserved Domains (1) summary
      COG0249
      Location:3 → 736
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    2. XM_036157897.1 → XP_036013790.1  DNA mismatch repair protein Msh3 isoform X2

      Conserved Domains (1) summary
      COG0249
      Location:3 → 736
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    3. XM_017315412.3 → XP_017170901.1  DNA mismatch repair protein Msh3 isoform X2

      Conserved Domains (1) summary
      COG0249
      Location:3 → 736
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    4. XM_006517543.2 → XP_006517606.1  DNA mismatch repair protein Msh3 isoform X1

      See identical proteins and their annotated locations for XP_006517606.1

      UniProtKB/TrEMBL
      B2RWY6
      Conserved Domains (1) summary
      COG0249
      Location:1 → 857
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    5. XM_006517542.2 → XP_006517605.1  DNA mismatch repair protein Msh3 isoform X1

      See identical proteins and their annotated locations for XP_006517605.1

      UniProtKB/TrEMBL
      B2RWY6
      Conserved Domains (1) summary
      COG0249
      Location:1 → 857
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    6. XM_017315413.2 → XP_017170902.1  DNA mismatch repair protein Msh3 isoform X2

      Conserved Domains (1) summary
      COG0249
      Location:3 → 736
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    RNA

    1. XR_004937944.1 RNA Sequence

      Related
      ENSMUST00000191550.7
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P13705.3 GenPept UniProtKB/Swiss-Prot:P13705

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