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MSH4 mutS homolog 4 [ Homo sapiens (human) ]

Gene ID: 4438, updated on 12-Oct-2019

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

Genomic context

See MSH4 in Genome Data Viewer
Location:
1p31.1
Exon count:
20
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (75796882..75913242)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (76262556..76379581)

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 BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Meiosis, organism-specific biosystem (from REACTOME)
    Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
  • Meiotic recombination, organism-specific biosystem (from REACTOME)
    Meiotic recombination, organism-specific biosystemMeiotic recombination exchanges segments of duplex DNA between chromosomal homologs, generating genetic diversity (reviewed in Handel and Schimenti 2010, Inagaki et al. 2010, Cohen et al. 2006). Ther...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-dependent ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mismatched DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
female gamete generation IEA
Inferred from Electronic Annotation
more info
 
mismatch repair IEA
Inferred from Electronic Annotation
more info
 
ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
reciprocal meiotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
resolution of meiotic recombination intermediates IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
synapsis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 
recombination nodule IEA
Inferred from Electronic Annotation
more info
 
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)

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 Annotation Release 109.20190905

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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