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

    Gene ID: 17686, updated on 2-Oct-2018

    Summary

    Official Symbol
    Msh3provided by MGI
    Official Full Name
    mutS homolog 3provided by MGI
    Primary source
    MGI:MGI:109519
    See related
    Ensembl:ENSMUSG00000014850 Vega:OTTMUSG00000047254
    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-3; D13Em1
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 5.6), CNS E14 (RPKM 4.6) and 25 other tissues See more
    Orthologs

    Genomic context

    See Msh3 in Genome Data Viewer
    Location:
    13 C3; 13 47.63 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 13 NC_000079.6 (92211878..92355003, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 13 NC_000079.5 (92981836..93124958, complement)

    Chromosome 13 - NC_000079.6Genomic 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 non-histone chromosomal protein HMG-17 pseudogene Neighboring gene 60S ribosomal protein L32 pseudogene Neighboring gene dihydrofolate reductase Neighboring gene ankyrin repeat domain 34B

    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 FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    Pathways from BioSystems

    • Colorectal cancer, organism-specific biosystem (from KEGG)
      Colorectal cancer, organism-specific biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
    • Colorectal cancer, conserved biosystem (from KEGG)
      Colorectal cancer, conserved biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Mismatch Repair, organism-specific biosystem (from REACTOME)
      Mismatch Repair, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Mismatch repair, organism-specific biosystem (from KEGG)
      Mismatch repair, organism-specific biosystemDNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preven...
    • Mismatch repair, conserved biosystem (from KEGG)
      Mismatch repair, conserved biosystemDNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preven...
    • Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta), organism-specific biosystem (from REACTOME)
      Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta), organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Platinum drug resistance, organism-specific biosystem (from KEGG)
      Platinum drug resistance, organism-specific biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
    • Platinum drug resistance, conserved biosystem (from KEGG)
      Platinum drug resistance, conserved biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    DNA binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    DNA-dependent ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    centromeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    damaged DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
     
    double-strand/single-strand DNA junction binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to guanine/thymine mispair binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to mismatched DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxidized purine DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to single guanine insertion binding ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to single thymine insertion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to single-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    DNA repair ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    maintenance of DNA repeat elements IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    maintenance of DNA repeat elements ISO
    Inferred from Sequence Orthology
    more info
     
    meiotic mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mismatch repair IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    mismatch repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mismatch repair ISO
    Inferred from Sequence Orthology
    more info
     
    mitotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of DNA recombination ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of helicase activity ISO
    Inferred from Sequence Orthology
    more info
     
    reciprocal meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    removal of nonhomologous ends IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    replication fork arrest IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    NOT somatic hypermutation of immunoglobulin genes IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    somatic recombination of immunoglobulin gene segments IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    MutSbeta complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    MutSbeta complex ISO
    Inferred from Sequence Orthology
    more info
     
    mismatch repair complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    DNA mismatch repair protein Msh3
    Names
    REP-1
    protein repair-1
    protein repair-3

    NCBI Reference Sequences (RefSeq)

    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_001311120.1NP_001298049.1  DNA mismatch repair protein Msh3 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. It encodes isoform 2 which is shorter compared to isoform 1.
      Source sequence(s)
      AC155263, AC161588, BM900100
      Consensus CDS
      CCDS79222.1
      UniProtKB/TrEMBL
      E9QPY6
      Related
      ENSMUSP00000022220.7, OTTMUSP00000067118, ENSMUST00000022220.12, OTTMUST00000122237
      Conserved Domains (6) summary
      COG0249
      Location:1831052
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
      pfam00488
      Location:8041051
      MutS_V; MutS domain V
      pfam01624
      Location:188301
      MutS_I; MutS domain I
      pfam05188
      Location:324481
      MutS_II; MutS domain II
      pfam05192
      Location:498613
      MutS_III; MutS domain III
      cl17822
      Location:670755
      MutS_III; MutS domain III
    2. NM_010829.2NP_034959.2  DNA mismatch repair protein Msh3 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK083388, BQ571929, BY710130, CAAA01059462, CK022909, M80360
      Consensus CDS
      CCDS49326.1
      UniProtKB/Swiss-Prot
      P13705
      UniProtKB/TrEMBL
      A0A087WQ16
      Related
      ENSMUSP00000140002.1, OTTMUSP00000067120, ENSMUST00000185852.6, OTTMUST00000122240
      Conserved Domains (6) summary
      COG0249
      Location:1831053
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
      pfam00488
      Location:8041052
      MutS_V; MutS domain V
      pfam01624
      Location:188301
      MutS_I; MutS domain I
      pfam05188
      Location:324481
      MutS_II; MutS domain II
      pfam05192
      Location:498613
      MutS_III; MutS domain III
      cl17822
      Location:670755
      MutS_III; MutS domain III

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000079.6 Reference GRCm38.p4 C57BL/6J

      Range
      92211878..92355003 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017315413.1XP_017170902.1  DNA mismatch repair protein Msh3 isoform X2

      Conserved Domains (5) summary
      smart00533
      Location:198511
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
      pfam00488
      Location:487735
      MutS_V; MutS domain V
      pfam05188
      Location:7164
      MutS_II; MutS domain II
      pfam05192
      Location:181296
      MutS_III; MutS domain III
      cl17822
      Location:353438
      MutS_III; MutS domain III
    2. XM_017315412.1XP_017170901.1  DNA mismatch repair protein Msh3 isoform X2

      Conserved Domains (5) summary
      smart00533
      Location:198511
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
      pfam00488
      Location:487735
      MutS_V; MutS domain V
      pfam05188
      Location:7164
      MutS_II; MutS domain II
      pfam05192
      Location:181296
      MutS_III; MutS domain III
      cl17822
      Location:353438
      MutS_III; MutS domain III
    3. XM_006517543.2XP_006517606.1  DNA mismatch repair protein Msh3 isoform X1

      See identical proteins and their annotated locations for XP_006517606.1

      Conserved Domains (6) summary
      COG0249
      Location:1857
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
      pfam00488
      Location:608856
      MutS_V; MutS domain V
      pfam01624
      Location:1105
      MutS_I; MutS domain I
      pfam05188
      Location:128285
      MutS_II; MutS domain II
      pfam05192
      Location:302417
      MutS_III; MutS domain III
      cl17822
      Location:474559
      MutS_III; MutS domain III
    4. XM_006517542.2XP_006517605.1  DNA mismatch repair protein Msh3 isoform X1

      See identical proteins and their annotated locations for XP_006517605.1

      Conserved Domains (6) summary
      COG0249
      Location:1857
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
      pfam00488
      Location:608856
      MutS_V; MutS domain V
      pfam01624
      Location:1105
      MutS_I; MutS domain I
      pfam05188
      Location:128285
      MutS_II; MutS domain II
      pfam05192
      Location:302417
      MutS_III; MutS domain III
      cl17822
      Location:474559
      MutS_III; MutS domain III
    5. XM_006517547.2XP_006517610.1  DNA mismatch repair protein Msh3 isoform X3

      Conserved Domains (5) summary
      COG0249
      Location:183758
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
      pfam01624
      Location:188301
      MutS_I; MutS domain I
      pfam05188
      Location:324481
      MutS_II; MutS domain II
      pfam05192
      Location:498613
      MutS_III; MutS domain III
      cl17822
      Location:670755
      MutS_III; MutS domain III
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