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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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