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    Msh6 mutS homolog 6 [ Mus musculus (house mouse) ]

    Gene ID: 17688, updated on 9-Dec-2024

    Summary

    Official Symbol
    Msh6provided by MGI
    Official Full Name
    mutS homolog 6provided by MGI
    Primary source
    MGI:MGI:1343961
    See related
    Ensembl:ENSMUSG00000005370 AllianceGenome:MGI:1343961
    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
    GTBP; Gtmbp
    Summary
    Enables chromatin binding activity; damaged DNA binding activity; and guanine/thymine mispair binding activity. Acts upstream of or within several processes, including determination of adult lifespan; intrinsic apoptotic signaling pathway in response to DNA damage; and somatic diversification of immunoglobulins. Located in chromatin. Part of MutSalpha complex. Is expressed in several structures, including brain; early conceptus; liver; lung; and oocyte. Human ortholog(s) of this gene implicated in Lynch syndrome; colorectal carcinoma; endometrial cancer; hereditary nonpolyposis colorectal cancer type 5; and mismatch repair cancer syndrome. Orthologous to human MSH6 (mutS homolog 6). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in CNS E11.5 (RPKM 17.1), liver E14 (RPKM 9.0) and 23 other tissues See more
    Orthologs
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    Genomic context

    See Msh6 in Genome Data Viewer
    Location:
    17 E4; 17 57.87 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (88282478..88298320)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (87975050..87990892)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_43521 Neighboring gene predicted gene, 41649 Neighboring gene STARR-seq mESC enhancer starr_43523 Neighboring gene STARR-seq mESC enhancer starr_43524 Neighboring gene STARR-seq mESC enhancer starr_43525 Neighboring gene STARR-seq mESC enhancer starr_43526 Neighboring gene STARR-seq mESC enhancer starr_43527 Neighboring gene ribosomal protein L36, pseudogene 4 Neighboring gene STARR-seq mESC enhancer starr_43528 Neighboring gene STARR-seq mESC enhancer starr_43529 Neighboring gene STARR-seq mESC enhancer starr_43530 Neighboring gene STARR-positive B cell enhancer ABC_E9446 Neighboring gene STARR-seq mESC enhancer starr_43533 Neighboring gene STARR-positive B cell enhancer ABC_E7566 Neighboring gene F-box protein 11 Neighboring gene STARR-positive B cell enhancer ABC_E8701 Neighboring gene STARR-positive B cell enhancer ABC_E4235 Neighboring gene STARR-positive B cell enhancer ABC_E5642 Neighboring gene STARR-positive B cell enhancer mm9_chr17:88465439-88465740 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:88465818-88465927 Neighboring gene STARR-seq mESC enhancer starr_43538 Neighboring gene STARR-positive B cell enhancer ABC_E1513 Neighboring gene STARR-positive B cell enhancer ABC_E5643 Neighboring gene STARR-seq mESC enhancer starr_43539 Neighboring gene predicted gene 4832 Neighboring gene predicted gene, 31499

    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 Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Targeted (3)  1 citation

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Items 1 - 25 of 35
    Function Evidence Code Pubs
    enables ADP binding  
    contributes_to ADP binding  
    enables ATP binding  
    contributes_to ATP binding  
    enables ATP-dependent DNA damage sensor activity  
    enables ATP-dependent activity, acting on DNA  
    enables DNA binding PubMed 
    enables DNA binding PubMed 
    enables MutLalpha complex binding  
    contributes_to MutLalpha complex binding  
    enables chromatin binding PubMed 
    enables damaged DNA binding PubMed 
    enables damaged DNA binding PubMed 
    contributes_to double-stranded DNA binding  
    enables enzyme binding  
    enables enzyme binding  
    enables four-way junction DNA binding  
    contributes_to four-way junction DNA binding  
    contributes_to guanine/thymine mispair binding PubMed 
    enables guanine/thymine mispair binding PubMed 
    contributes_to guanine/thymine mispair binding  
    enables magnesium ion binding  
    contributes_to magnesium ion binding  
    enables methylated histone binding  
    enables methylated histone binding  
    enables mismatched DNA binding  
    contributes_to mismatched DNA binding  
    enables mismatched DNA binding  
    enables mismatched DNA binding  
    enables oxidized purine DNA binding  
    contributes_to oxidized purine DNA binding  
    enables single guanine insertion binding  
    contributes_to single guanine insertion binding  
    enables single thymine insertion binding  
    contributes_to single thymine insertion binding  
    Items 1 - 25 of 35
    Process Evidence Code Pubs
    involved_in DNA repair  
    acts_upstream_of_or_within determination of adult lifespan PubMed 
    acts_upstream_of_or_within intrinsic apoptotic signaling pathway PubMed 
    acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage PubMed 
    acts_upstream_of_or_within isotype switching PubMed 
    acts_upstream_of_or_within isotype switching PubMed 
    involved_in mismatch repair  
    acts_upstream_of_or_within mismatch repair PubMed 
    acts_upstream_of_or_within mismatch repair PubMed 
    acts_upstream_of_or_within mismatch repair PubMed 
    involved_in mismatch repair  
    acts_upstream_of_or_within negative regulation of DNA recombination PubMed 
    involved_in negative regulation of DNA recombination  
    involved_in positive regulation of helicase activity  
    acts_upstream_of_or_within response to UV PubMed 
    acts_upstream_of_or_within somatic hypermutation of immunoglobulin genes PubMed 
    acts_upstream_of_or_within somatic recombination of immunoglobulin gene segments PubMed 
    involved_in spermatogenesis  
    Component Evidence Code Pubs
    located_in Golgi apparatus  
    located_in Golgi apparatus  
    part_of MutSalpha complex  
    part_of MutSalpha complex PubMed 
    part_of MutSalpha complex  
    located_in chromatin PubMed 
    located_in cytosol  
    located_in cytosol  
    located_in intracellular membrane-bounded organelle  
    located_in nucleoplasm  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus  

    General protein information

    Preferred Names
    DNA mismatch repair protein Msh6
    Names
    g/T mismatch-binding protein
    mutS protein homolog 6
    mutS-alpha 160 kDa subunit
    p160

    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_010830.2NP_034960.1  DNA mismatch repair protein Msh6

      See identical proteins and their annotated locations for NP_034960.1

      Status: VALIDATED

      Source sequence(s)
      BC051634, CN458717
      Consensus CDS
      CCDS29021.1
      UniProtKB/Swiss-Prot
      O54710, P54276, Q6GTK8
      UniProtKB/TrEMBL
      Q8C2N9
      Related
      ENSMUSP00000005503.4, ENSMUST00000005503.5
      Conserved Domains (8) summary
      cd05837
      Location:88195
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
      COG0249
      Location:4061330
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
      pfam01624
      Location:406524
      MutS_I; MutS domain I
      pfam05188
      Location:537689
      MutS_II; MutS domain II
      pfam05190
      Location:9291021
      MutS_IV; MutS family domain IV
      pfam05192
      Location:736824
      MutS_III; MutS domain III
      pfam14797
      Location:224349
      SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
      cl21455
      Location:10891311
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      88282478..88298320
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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