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MSH4 mutS homolog 4 [ Homo sapiens (human) ]

Gene ID: 4438, updated on 22-Aug-2021

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
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
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
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Genomic context

See MSH4 in Genome Data Viewer
Location:
1p31.1
Exon count:
20
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (75796882..75913242)
105.20201022 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

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP-dependent activity, acting on DNA IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA binding TAS
Traceable Author Statement
more info
PubMed 
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 meiotic mismatch repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
involved_in reciprocal meiotic recombination TAS
Traceable Author Statement
more info
PubMed 
involved_in resolution of meiotic recombination intermediates IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
located_in nucleus TAS
Traceable Author Statement
more info
PubMed 
located_in recombination nodule IEA
Inferred from Electronic Annotation
more info
 
is_active_in synaptonemal complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
mutS protein homolog 4
Names
hMSH4

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.

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
    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: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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