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

Gene ID: 17686, updated on 5-Mar-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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