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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]
MSH3 (MutS Homolog 3) is a Protein Coding gene. Diseases associated with MSH3 include Familial Adenomatous Polyposis 4 and Endometrial Cancer. Among its related pathways are Mismatch repair and Platinum drug resistance. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and single-stranded DNA binding. An important paralog of this gene is MSH6.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003697 | contributes_to single-stranded DNA binding | IDA | 11809883 |
GO:0005515 | protein binding | IPI | 8942985 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 26300262 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0016020 | membrane | HDA | 19946888 |
GO:0032300 | mismatch repair complex | IBA | 21873635 |
GO:0032301 | MutSalpha complex | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mismatch repair |
.54
Mismatch Repair in Eukaryotes
.54
|
.01
|
2 | Endometrial cancer | ||
3 | Pathways in cancer | ||
4 | Platinum drug resistance | ||
5 | Colorectal Cancer Metastasis |
Colorectal Cancer Metastasis
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000710 | meiotic mismatch repair | IBA | 21873635 |
GO:0000735 | removal of nonhomologous ends | IBA | 21873635 |
GO:0006281 | DNA repair | IEA,IDA | 8942985 |
GO:0006298 | mismatch repair | IEA,TAS | -- |
GO:0006312 | mitotic recombination | IBA | 21873635 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MSH3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MSH3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MSH3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Msh3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Msh3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | MSH3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MSH3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MSH3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | msh3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | msh3 30 31 31 |
|
OneToMany | |
Dr.28362 30 |
|
||||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSH3 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | MSH3 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os04g0682900 30 |
|
||
Os.27360 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.1594 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | msh3 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08115 30 |
|
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638366 | Uncertain Significance: not specified | 80,654,905(+) | G/GCCGCAGCGCCCGC | NON_CODING_TRANSCRIPT_VARIANT,INFRAME_INSERTION,FIVE_PRIME_UTR_VARIANT | |
638856 | Uncertain Significance: not provided | 80,767,940(+) | C/T | MISSENSE_VARIANT | |
638923 | Uncertain Significance: not provided | 80,744,495(+) | GTCTT/G | INTRON_VARIANT | |
639070 | Uncertain Significance: not provided | 80,873,211(+) | G/A | MISSENSE_VARIANT | |
639097 | Pathogenic: not provided | 80,728,942(+) | GG/C | FRAMESHIFT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
familial adenomatous polyposis 4 |
|
|
endometrial cancer |
|
|
inherited cancer-predisposing syndrome |
|
|
familial adenomatous polyposis |
|
|
dracunculiasis |
|
|