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MSH3 mutS homolog 3 [ Homo sapiens (human) ]

Gene ID: 4437, updated on 23-Sep-2022

Summary

Official Symbol
MSH3provided by HGNC
Official Full Name
mutS homolog 3provided by HGNC
Primary source
HGNC:HGNC:7326
See related
Ensembl:ENSG00000113318 MIM:600887; AllianceGenome:HGNC:7326
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
DUP; FAP4; MRP1
Summary
The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011]
Expression
Ubiquitous expression in fat (RPKM 8.1), kidney (RPKM 7.5) and 25 other tissues See more
Orthologs
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Genomic context

See MSH3 in Genome Data Viewer
Location:
5q14.1
Exon count:
24
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (80654652..80876815)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (81139552..81361456)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (79950471..80172634)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory regions 13584 and 3862 Neighboring gene MT-RNR2 like 2 (pseudogene) Neighboring gene dihydrofolate reductase Neighboring gene S-phase kinase-associated protein 1-like Neighboring gene ribosomal protein S26 pseudogene 27 Neighboring gene uncharacterized LOC107986428 Neighboring gene RASGRF2 antisense RNA 1 Neighboring gene Ras protein specific guanine nucleotide releasing factor 2

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

Clone Names

  • MGC163306, MGC163308

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in DNA repair IDA
Inferred from Direct Assay
more info
PubMed 
involved_in maintenance of DNA repeat elements IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mismatch repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mismatch repair IDA
Inferred from Direct Assay
more info
PubMed 
involved_in mismatch repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of DNA recombination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in somatic recombination of immunoglobulin gene segments IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of MutSbeta complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of MutSbeta complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in membrane HDA PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DNA mismatch repair protein Msh3
Names
divergent upstream protein
epididymis secretory sperm binding protein
hMSH3
mismatch repair protein 1

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_016607.2 RefSeqGene

    Range
    5178..227341
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002439.5NP_002430.3  DNA mismatch repair protein Msh3

    See identical proteins and their annotated locations for NP_002430.3

    Status: REVIEWED

    Source sequence(s)
    AA601983, AC022493, BC130434, J04810, U61981
    Consensus CDS
    CCDS34195.1
    UniProtKB/Swiss-Prot
    P20585, Q92867
    Related
    ENSP00000265081.6, ENST00000265081.7
    Conserved Domains (6) summary
    COG0249
    Location:2251111
    MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
    pfam00488
    Location:8461094
    MutS_V; MutS domain V
    pfam01624
    Location:230343
    MutS_I; MutS domain I
    pfam05188
    Location:366523
    MutS_II; MutS domain II
    pfam05192
    Location:540680
    MutS_III; MutS domain III
    cl17822
    Location:717783
    MutS_III; MutS domain III

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    80654652..80876815
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    81139552..81361456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)