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    MSH3 mutS homolog 3 [ Homo sapiens (human) ]

    Gene ID: 4437, updated on 7-Apr-2024

    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; AllianceGenome:HGNC:7326
    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
    NEW
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    Genomic context

    See MSH3 in Genome Data Viewer
    Location:
    5q14.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (80654652..80876815)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (81139552..81361456)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (79950471..80172634)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2279 Neighboring gene long intergenic non-protein coding RNA 1337 Neighboring gene Sharpr-MPRA regulatory regions 13584 and 3862 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:79950324-79951092 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:79963410-79963977 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:79963978-79964546 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:79968379-79969578 Neighboring gene MPRA-validated peak5310 silencer Neighboring gene MT-RNR2 like 2 (pseudogene) Neighboring gene dihydrofolate reductase Neighboring gene ReSE screen-validated silencer GRCh37_chr5:80040756-80040944 Neighboring gene S-phase kinase-associated protein 1-like Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:80043670-80044230 Neighboring gene MPRA-validated peak5311 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:80142431-80142931 Neighboring gene uncharacterized LOC107986428 Neighboring gene ribosomal protein S26 pseudogene 27 Neighboring gene RASGRF2 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:80252674-80253194 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:80256285-80257006 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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC163306, MGC163308

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in maintenance of DNA repeat elements IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mismatch repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mismatch repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of DNA recombination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of helicase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in somatic recombination of immunoglobulin gene segments IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of MutSbeta complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of MutSbeta complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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
      5178..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
      A1L480, A1L482, A6NMM6, P20585, Q6PJT5, Q86UQ6, Q92867
      UniProtKB/TrEMBL
      A0A384MDZ1
      Related
      ENSP00000265081.6, ENST00000265081.7
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      80654652..80876815
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      81139552..81361456
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)