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

Gene ID: 17688, updated on 8-Feb-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, Apr 2022]
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)
  • Targeted (3)  1 citation
  • Chemically induced (ENU) (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
contributes_to ADP binding ISO
Inferred from Sequence Orthology
more info
 
contributes_to ATP binding ISO
Inferred from Sequence Orthology
more info
 
enables ATP-dependent DNA damage sensor activity IEA
Inferred from Electronic Annotation
more info
 
enables ATP-dependent activity, acting on DNA ISO
Inferred from Sequence Orthology
more info
 
enables DNA binding IGI
Inferred from Genetic Interaction
more info
PubMed 
enables DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to MutLalpha complex binding ISO
Inferred from Sequence Orthology
more info
 
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables damaged DNA binding IGI
Inferred from Genetic Interaction
more info
PubMed 
enables damaged DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to double-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables enzyme binding ISO
Inferred from Sequence Orthology
more info
 
contributes_to four-way junction DNA binding ISO
Inferred from Sequence Orthology
more info
 
contributes_to guanine/thymine mispair binding IDA
Inferred from Direct Assay
more info
PubMed 
enables guanine/thymine mispair binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to guanine/thymine mispair binding ISO
Inferred from Sequence Orthology
more info
 
contributes_to magnesium ion binding ISO
Inferred from Sequence Orthology
more info
 
enables methylated histone binding ISO
Inferred from Sequence Orthology
more info
 
enables mismatched DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to mismatched DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables mismatched DNA binding ISO
Inferred from Sequence Orthology
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to oxidized purine DNA binding ISO
Inferred from Sequence Orthology
more info
 
contributes_to single guanine insertion binding ISO
Inferred from Sequence Orthology
more info
 
contributes_to single thymine insertion 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
 
acts_upstream_of_or_within determination of adult lifespan IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within isotype switching IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within isotype switching IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
acts_upstream_of_or_within mismatch repair ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in mismatch repair ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within negative regulation of DNA recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
acts_upstream_of_or_within response to UV IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within somatic hypermutation of immunoglobulin genes IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within somatic recombination of immunoglobulin gene segments IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
part_of MutSalpha complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of MutSalpha complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of MutSalpha complex ISO
Inferred from Sequence Orthology
more info
 
part_of chromatin IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromosome IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm 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

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)