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    MSH3 mutS homolog 3 [ Homo sapiens (human) ]

    Gene ID: 4437, updated on 27-Dec-2018

    Summary

    Official Symbol
    MSH3provided by HGNC
    Official Full Name
    mutS homolog 3provided by HGNC
    Primary source
    HGNC:HGNC:7326
    See related
    Ensembl:ENSG00000113318 MIM:600887
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DUP; FAP4; MRP1
    Summary
    The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011]
    Expression
    Ubiquitous expression in fat (RPKM 8.1), kidney (RPKM 7.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See MSH3 in Genome Data Viewer
    Location:
    5q14.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (80654648..80876815)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (79950467..80172634)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1337 Neighboring gene MT-RNR2 like 2 Neighboring gene dihydrofolate reductase Neighboring gene S-phase kinase-associated protein 1 pseudogene Neighboring gene uncharacterized LOC107986428 Neighboring gene ribosomal protein S26 pseudogene 27 Neighboring gene RASGRF2 antisense RNA 1 Neighboring gene Ras protein specific guanine nucleotide releasing factor 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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 biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Mismatch Repair, organism-specific biosystem (from REACTOME)
      Mismatch Repair, organism-specific biosystemThe mismatch repair (MMR) system corrects single base mismatches and small insertion and deletion loops (IDLs) of unpaired bases. MMR is primarily associated with DNA replication and is highly conser...
    • 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 biosystemMSH2:MSH3 (MutSbeta) binds unpaired loops of 2 or more nucleotides (Palombo et al. 1996, Genschel et al. 1998). Human cells contain about 6-fold more MSH2:MSH6 than MSH2:MSH3 (MutSbeta) and an imbala...
    • 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

    Clone Names

    • MGC163306, MGC163308

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    DNA-dependent ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    damaged DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to dinucleotide insertion or deletion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to dinucleotide repeat insertion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-strand/single-strand DNA junction binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to guanine/thymine mispair binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    NOT guanine/thymine mispair binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to mismatched DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidized purine DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    NOT contributes_to oxidized purine DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to single guanine insertion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to single thymine insertion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    maintenance of DNA repeat elements IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    maintenance of DNA repeat elements IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mismatch repair TAS
    Traceable Author Statement
    more info
     
    mitotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of DNA recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of helicase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    Component Evidence Code Pubs
    MutSbeta complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    MutSbeta complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane HDA PubMed 
    mismatch repair complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    DNA mismatch repair protein Msh3
    Names
    divergent upstream protein
    epididymis secretory sperm binding protein
    hMSH3
    mismatch repair protein 1

    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.

    Genomic

    1. NG_016607.2 RefSeqGene

      Range
      5174..227341
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002439.5NP_002430.3  DNA mismatch repair protein Msh3

      See identical proteins and their annotated locations for NP_002430.3

      Status: REVIEWED

      Source sequence(s)
      AA601983, AC022493, BC130434, J04810, U61981
      Consensus CDS
      CCDS34195.1
      UniProtKB/Swiss-Prot
      P20585
      Related
      ENSP00000265081.6, ENST00000265081.6
      Conserved Domains (6) summary
      COG0249
      Location:2251111
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
      pfam00488
      Location:8461094
      MutS_V; MutS domain V
      pfam01624
      Location:230343
      MutS_I; MutS domain I
      pfam05188
      Location:366523
      MutS_II; MutS domain II
      pfam05192
      Location:540680
      MutS_III; MutS domain III
      cl17822
      Location:717783
      MutS_III; MutS domain III

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

      Range
      80654648..80876815
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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