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    Msh5 mutS homolog 5 [ Mus musculus (house mouse) ]

    Gene ID: 17687, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Msh5provided by MGI
    Official Full Name
    mutS homolog 5provided by MGI
    Primary source
    MGI:MGI:1329021
    See related
    Ensembl:ENSMUSG00000007035 AllianceGenome:MGI:1329021
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mut5
    Summary
    This gene encodes a member of the MutS family of proteins that play critical roles in DNA mismatch repair and meiotic homologous recombination processes. Mice lacking the encoded protein are viable but sterile, with severe defects in spermatogenesis in males and complete loss of ovarian structures in females. Mutations in a similar gene in humans have been shown to cause common variable immune deficiency (CVID) and immunoglobulin A deficiency. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
    Expression
    Ubiquitous expression in testis adult (RPKM 3.5), liver E18 (RPKM 1.6) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    17 B1; 17 18.57 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (35247581..35267842, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (35028605..35046997, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E7526 Neighboring gene valyl-tRNA synthetase 1 Neighboring gene von Willebrand factor A domain containing 7 Neighboring gene suppressor APC domain containing 1 Neighboring gene predicted gene, 52318 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:35183800-35183983 Neighboring gene STARR-positive B cell enhancer ABC_E8671 Neighboring gene STARR-seq mESC enhancer starr_42445 Neighboring gene predicted gene, 23421 Neighboring gene chloride intracellular channel 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Reassessment of the role of Mut S homolog 5 in Ig class switch recombination shows lack of involvement in cis- and trans-switching. Guikema JE, et al. J Immunol, 2008 Dec 15. PMID 19050263, Free PMC Article
    2. Mouse MutS-like protein Msh5 is required for proper chromosome synapsis in male and female meiosis. de Vries SS, et al. Genes Dev, 1999 Mar 1. PMID 10072381, Free PMC Article
    3. Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing. Chen M, et al. Signal Transduct Target Ther, 2022 Jan 3. PMID 34980881, Free PMC Article
    4. Mutations in MSH5 in primary ovarian insufficiency. Guo T, et al. Hum Mol Genet, 2017 Apr 15. PMID 28175301, Free PMC Article
    5. Mouse MutS homolog 4 is predominantly expressed in testis and interacts with MutS homolog 5. Her C, et al. Mamm Genome, 2001 Jan. PMID 11178747

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
      Title: Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
    2. Results reported in this study indicate that Msh5 does not have a role in immunoglobulin class switch recombination.
      Title: Reassessment of the role of Mut S homolog 5 in Ig class switch recombination shows lack of involvement in cis- and trans-switching.
    3. Immunohistochemical analysis revealed the co-localization of SMCY with MSH5 at a specific stage of meiotic prophase progression during murine spermatogenesis.
      Title: Spermatogenesis-specific association of SMCY and MSH5.
    4. These findings suggest that Msh4/5 heterodimers contribute to class switch recombination.
      Title: Role for Msh5 in the regulation of Ig class switch recombination.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent DNA damage sensor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables double-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mismatched DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chiasma assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within female gamete generation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within homologous chromosome pairing at meiosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within meiosis I IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mismatch repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in synaptonemal complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mutS protein homolog 5
    Names
    DNA mismatch repair protein Msh5

    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_001146215.2 → NP_001139687.1  mutS protein homolog 5

      See identical proteins and their annotated locations for NP_001139687.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC087117
      Consensus CDS
      CCDS28674.1
      UniProtKB/Swiss-Prot
      Q9QUM7, Q9Z1Q6
      UniProtKB/TrEMBL
      A0A0R4IZY8
      Related
      ENSMUSP00000094951.5, ENSMUST00000097338.11
      Conserved Domains (5) summary
      cd03281
      Location:556 → 762
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      smart00533
      Location:252 → 568
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
      pfam05192
      Location:252 → 389
      MutS_III; MutS domain III
      pfam11369
      Location:65 → 149
      DUF3160; Protein of unknown function (DUF3160)
      cl17822
      Location:397 → 495
      MutS_III; MutS domain III

    2. NM_013600.3 → NP_038628.2  mutS protein homolog 5

      See identical proteins and their annotated locations for NP_038628.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC087117
      Consensus CDS
      CCDS28674.1
      UniProtKB/Swiss-Prot
      Q9QUM7, Q9Z1Q6
      UniProtKB/TrEMBL
      A0A0R4IZY8
      Related
      ENSMUSP00000007250.8, ENSMUST00000007250.14
      Conserved Domains (5) summary
      cd03281
      Location:556 → 762
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      smart00533
      Location:252 → 568
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
      pfam05192
      Location:252 → 389
      MutS_III; MutS domain III
      pfam11369
      Location:65 → 149
      DUF3160; Protein of unknown function (DUF3160)
      cl17822
      Location:397 → 495
      MutS_III; MutS domain III

    RNA

    1. NR_130640.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC087117
      Related
      ENSMUST00000174603.8

    2. NR_130641.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC087117
      Related
      ENSMUST00000172536.2

    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
      35247581..35267842 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036160350.1 → XP_036016243.1  mutS protein homolog 5 isoform X2

      UniProtKB/Swiss-Prot
      Q9QUM7, Q9Z1Q6
      Conserved Domains (2) summary
      cd03281
      Location:546 → 752
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      COG0249
      Location:118 → 804
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    2. XM_030249532.2 → XP_030105392.1  mutS protein homolog 5 isoform X2

      UniProtKB/Swiss-Prot
      Q9QUM7, Q9Z1Q6
      Conserved Domains (2) summary
      cd03281
      Location:546 → 752
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      COG0249
      Location:118 → 804
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    3. XM_030249539.1 → XP_030105399.1  mutS protein homolog 5 isoform X11

      UniProtKB/Swiss-Prot
      Q9QUM7, Q9Z1Q6
      Conserved Domains (2) summary
      cd03281
      Location:470 → 676
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      COG0249
      Location:54 → 728
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    4. XM_036160358.1 → XP_036016251.1  mutS protein homolog 5 isoform X13

      Conserved Domains (2) summary
      cd03281
      Location:289 → 495
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      COG0249
      Location:5 → 547
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    5. XM_030249542.1 → XP_030105402.1  mutS protein homolog 5 isoform X14

      Conserved Domains (2) summary
      cd03281
      Location:262 → 468
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      COG0249
      Location:3 → 520
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    6. XM_030249541.1 → XP_030105401.1  mutS protein homolog 5 isoform X13

      Conserved Domains (2) summary
      cd03281
      Location:289 → 495
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      COG0249
      Location:5 → 547
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    7. XM_036160357.1 → XP_036016250.1  mutS protein homolog 5 isoform X10

      UniProtKB/Swiss-Prot
      Q9QUM7, Q9Z1Q6
      Conserved Domains (2) summary
      cd03281
      Location:482 → 688
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      COG0249
      Location:54 → 740
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    8. XM_036160359.1 → XP_036016252.1  mutS protein homolog 5 isoform X14

      Conserved Domains (2) summary
      cd03281
      Location:262 → 468
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      COG0249
      Location:3 → 520
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    9. XM_006523780.5 → XP_006523843.1  mutS protein homolog 5 isoform X12

      See identical proteins and their annotated locations for XP_006523843.1

      UniProtKB/Swiss-Prot
      Q9QUM7, Q9Z1Q6
      Conserved Domains (2) summary
      cd03281
      Location:399 → 605
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      COG0249
      Location:22 → 657
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    10. XM_006523770.1 → XP_006523833.1  mutS protein homolog 5 isoform X1

      See identical proteins and their annotated locations for XP_006523833.1

      UniProtKB/Swiss-Prot
      Q9QUM7, Q9Z1Q6
      Conserved Domains (2) summary
      cd03281
      Location:552 → 758
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      COG0249
      Location:124 → 810
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    11. XM_006523778.1 → XP_006523841.1  mutS protein homolog 5 isoform X7

      See identical proteins and their annotated locations for XP_006523841.1

      UniProtKB/Swiss-Prot
      Q9QUM7, Q9Z1Q6
      Conserved Domains (2) summary
      cd03281
      Location:508 → 714
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      COG0249
      Location:92 → 766
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    12. XM_036160352.1 → XP_036016245.1  mutS protein homolog 5 isoform X4

      UniProtKB/Swiss-Prot
      Q9QUM7, Q9Z1Q6
      Conserved Domains (2) summary
      cd03281
      Location:535 → 741
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      COG0249
      Location:57 → 793
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    13. XM_036160355.1 → XP_036016248.1  mutS protein homolog 5 isoform X8

      UniProtKB/Swiss-Prot
      Q9QUM7, Q9Z1Q6
      Conserved Domains (2) summary
      cd03281
      Location:508 → 714
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      COG0249
      Location:224 → 766
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    14. XM_036160351.1 → XP_036016244.1  mutS protein homolog 5 isoform X3

      UniProtKB/Swiss-Prot
      Q9QUM7, Q9Z1Q6
      Conserved Domains (2) summary
      cd03281
      Location:544 → 750
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      COG0249
      Location:128 → 802
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    15. XM_036160354.1 → XP_036016247.1  mutS protein homolog 5 isoform X6

      UniProtKB/Swiss-Prot
      Q9QUM7, Q9Z1Q6
      Conserved Domains (2) summary
      cd03281
      Location:520 → 726
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      COG0249
      Location:236 → 778
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    16. XM_036160353.1 → XP_036016246.1  mutS protein homolog 5 isoform X5

      UniProtKB/Swiss-Prot
      Q9QUM7, Q9Z1Q6
      Conserved Domains (2) summary
      cd03281
      Location:535 → 741
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      COG0249
      Location:128 → 793
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    17. XM_036160356.1 → XP_036016249.1  mutS protein homolog 5 isoform X9

      UniProtKB/Swiss-Prot
      Q9QUM7, Q9Z1Q6
      Conserved Domains (2) summary
      cd03281
      Location:495 → 701
      ABC_MSH5_euk; ATP-binding cassette domain of eukaryotic MutS5 homolog
      COG0249
      Location:128 → 753
      MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

    18. XM_036160361.1 → XP_036016254.1  mutS protein homolog 5 isoform X15

      UniProtKB/TrEMBL
      G3UYF6
      Conserved Domains (1) summary
      smart00533
      Location:252 → 403
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family

    19. XM_036160360.1 → XP_036016253.1  mutS protein homolog 5 isoform X15

      UniProtKB/TrEMBL
      G3UYF6
      Conserved Domains (1) summary
      smart00533
      Location:252 → 403
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family

    20. XM_036160362.1 → XP_036016255.1  mutS protein homolog 5 isoform X15

      UniProtKB/TrEMBL
      G3UYF6
      Conserved Domains (1) summary
      smart00533
      Location:252 → 403
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family

    RNA

    1. XR_004939473.1 RNA Sequence

    2. XR_004939475.1 RNA Sequence

    3. XR_004939476.1 RNA Sequence

    4. XR_004939472.1 RNA Sequence

    5. XR_004939471.1 RNA Sequence

    6. XR_004939474.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9QUM7.1 GenPept UniProtKB/Swiss-Prot:Q9QUM7

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