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    MSH4 mutS homolog 4 [ Homo sapiens (human) ]

    Gene ID: 4438, updated on 9-Jan-2024

    Summary

    Official Symbol
    MSH4provided by HGNC
    Official Full Name
    mutS homolog 4provided by HGNC
    Primary source
    HGNC:HGNC:7327
    See related
    Ensembl:ENSG00000057468 MIM:602105; AllianceGenome:HGNC:7327
    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
    ASG; POF20; SPGF2
    Summary
    This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]
    Expression
    Biased expression in testis (RPKM 2.6) and small intestine (RPKM 0.1) See more
    Orthologs
    NEW
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    Genomic context

    See MSH4 in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (75796882..75913242)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (75633544..75751219)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (76262567..76378927)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 45A Neighboring gene Rab geranylgeranyltransferase subunit beta Neighboring gene small nucleolar RNA, C/D box 45B Neighboring gene ankyrin repeat and SOCS box containing 17 Neighboring gene uncharacterized LOC105378806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1209

    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

    Gene Ontology Provided by GOA

    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 TAS
    Traceable Author Statement
    more info
    PubMed 
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in female gamete generation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homologous chromosome pairing at meiosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mismatch repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ovarian follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in reciprocal meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in recombination nodule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in synaptonemal complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    mutS protein homolog 4
    Names
    hMSH4

    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_029861.1 RefSeqGene

      Range
      5012..121372
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002440.4NP_002431.2  mutS protein homolog 4

      See identical proteins and their annotated locations for NP_002431.2

      Status: REVIEWED

      Source sequence(s)
      AF104243, AL445464, BC033030, DB077677
      Consensus CDS
      CCDS670.1
      UniProtKB/Swiss-Prot
      O15457, Q5T4U6, Q8NEB3, Q9UNP8
      Related
      ENSP00000263187.3, ENST00000263187.4
      Conserved Domains (5) summary
      smart00533
      Location:334656
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
      pfam00488
      Location:635871
      MutS_V; MutS domain V
      pfam05188
      Location:156293
      MutS_II; MutS domain II
      pfam05190
      Location:493587
      MutS_IV; MutS family domain IV
      pfam05192
      Location:315400
      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      75796882..75913242
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      75633544..75751219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)