Human Gene MSH3 (ENST00000265081.7) from GENCODE V44
Description: Homo sapiens mutS homolog 3 (MSH3), mRNA. (from RefSeq NM_002439) RefSeq Summary (NM_002439): 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]. Gencode Transcript: ENST00000265081.7 Gencode Gene: ENSG00000113318.11 Transcript (Including UTRs) Position: hg38 chr5:80,654,652-80,876,815 Size: 222,164 Total Exon Count: 24 Strand: + Coding Region Position: hg38 chr5:80,654,728-80,875,862 Size: 221,135 Coding Exon Count: 24
ID:MSH3_HUMAN DESCRIPTION: RecName: Full=DNA mismatch repair protein Msh3; Short=hMSH3; AltName: Full=Divergent upstream protein; Short=DUP; AltName: Full=Mismatch repair protein 1; Short=MRP1; FUNCTION: Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields approximately 20 base pairs. MutS beta recognizes large insertion- deletion loops (IDL) up to 13 nucleotides long. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. SUBUNIT: Heterodimer consisting of MSH2-MSH3 (MutS beta). Forms a ternary complex with MutL alpha (MLH1-PMS1). Interacts with EXO1. INTERACTION: P43246:MSH2; NbExp=4; IntAct=EBI-1164205, EBI-355888; PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in MSH3 are a cause of susceptibility to endometrial cancer (ENDMC) [MIM:608089]. SIMILARITY: Belongs to the DNA mismatch repair MutS family. MSH3 subfamily. SEQUENCE CAUTION: Sequence=AAH11817.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MSH3ID341ch5q11.html"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/msh3/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P20585
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006281 DNA repair GO:0006298 mismatch repair GO:0006974 cellular response to DNA damage stimulus GO:0016447 somatic recombination of immunoglobulin gene segments GO:0043570 maintenance of DNA repeat elements GO:0045910 negative regulation of DNA recombination GO:0051096 positive regulation of helicase activity
LF209855 - JP 2014500723-A/17358: Polycomb-Associated Non-Coding RNAs. MA445432 - JP 2018138019-A/17358: Polycomb-Associated Non-Coding RNAs. BC130434 - Homo sapiens mutS homolog 3 (E. coli), mRNA (cDNA clone MGC:163306 IMAGE:40146465), complete cds. BC130436 - Homo sapiens mutS homolog 3 (E. coli), mRNA (cDNA clone MGC:163308 IMAGE:40146467), complete cds. GQ900965 - Homo sapiens clone HEL-T-77 epididymis secretory sperm binding protein mRNA, complete cds. AK289856 - Homo sapiens cDNA FLJ75589 complete cds, highly similar to Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA. J04810 - Human MSH3 gene, complete cds. BC004177 - Homo sapiens mutS homolog 3 (E. coli), mRNA (cDNA clone IMAGE:2959447). BC011817 - Homo sapiens mutS homolog 3 (E. coli), mRNA (cDNA clone IMAGE:3532592), partial cds. BC098436 - Homo sapiens mutS homolog 3 (E. coli), mRNA (cDNA clone IMAGE:4906085). U61981 - Human putative mismatch repair/binding protein hMSH3 (hMSH3) mRNA, complete cds. BC017273 - Homo sapiens mutS homolog 3 (E. coli), mRNA (cDNA clone IMAGE:4811079). LF332221 - JP 2014500723-A/139724: Polycomb-Associated Non-Coding RNAs. MA567798 - JP 2018138019-A/139724: Polycomb-Associated Non-Coding RNAs. LF332220 - JP 2014500723-A/139723: Polycomb-Associated Non-Coding RNAs. MA567797 - JP 2018138019-A/139723: Polycomb-Associated Non-Coding RNAs. LF332219 - JP 2014500723-A/139722: Polycomb-Associated Non-Coding RNAs. MA567796 - JP 2018138019-A/139722: Polycomb-Associated Non-Coding RNAs. LF332212 - JP 2014500723-A/139715: Polycomb-Associated Non-Coding RNAs. MA567789 - JP 2018138019-A/139715: Polycomb-Associated Non-Coding RNAs. LF332200 - JP 2014500723-A/139703: Polycomb-Associated Non-Coding RNAs. MA567777 - JP 2018138019-A/139703: Polycomb-Associated Non-Coding RNAs. LF332197 - JP 2014500723-A/139700: Polycomb-Associated Non-Coding RNAs. MA567774 - JP 2018138019-A/139700: Polycomb-Associated Non-Coding RNAs. JD244685 - Sequence 225709 from Patent EP1572962. JD566706 - Sequence 547730 from Patent EP1572962. JD300319 - Sequence 281343 from Patent EP1572962. JD079392 - Sequence 60416 from Patent EP1572962. JD429018 - Sequence 410042 from Patent EP1572962. JD060792 - Sequence 41816 from Patent EP1572962. JD315741 - Sequence 296765 from Patent EP1572962. JD506815 - Sequence 487839 from Patent EP1572962. JD167641 - Sequence 148665 from Patent EP1572962. JD481268 - Sequence 462292 from Patent EP1572962. JD179365 - Sequence 160389 from Patent EP1572962. JD158792 - Sequence 139816 from Patent EP1572962. JD275652 - Sequence 256676 from Patent EP1572962. JD208635 - Sequence 189659 from Patent EP1572962. JD378629 - Sequence 359653 from Patent EP1572962. JD208107 - Sequence 189131 from Patent EP1572962. JD136154 - Sequence 117178 from Patent EP1572962. JD243194 - Sequence 224218 from Patent EP1572962. JD079520 - Sequence 60544 from Patent EP1572962. JD313435 - Sequence 294459 from Patent EP1572962. JD106616 - Sequence 87640 from Patent EP1572962. JD145066 - Sequence 126090 from Patent EP1572962. JD322988 - Sequence 304012 from Patent EP1572962. JD401692 - Sequence 382716 from Patent EP1572962. JD299114 - Sequence 280138 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03430 - Mismatch repair hsa05200 - Pathways in cancer hsa05210 - Colorectal cancer
Reactome (by CSHL, EBI, and GO)
Protein P20585 (Reactome details) participates in the following event(s):
R-HSA-5444511 Formation of MSH2:MSH3 Complex R-HSA-5358513 MSH2:MSH3 binds insertion/deletion loop of 2 bases or more R-HSA-5358919 MSH2:MSH3 exchanges ADP for ATP R-HSA-5358545 EXO1 interacts with MSH2:MSH3 (MutSbeta) and MLH1:PMS2 (MutLalpha) R-HSA-5358512 MLH1:PMS2 makes single strand incision near insertion/deletion loop of 2 bases or more R-HSA-5358519 MSH2:MSH3 recruits MLH1:PMS2 to mismatch and interacts with PCNA R-HSA-5358606 Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) R-HSA-5632928 Defective Mismatch Repair Associated With MSH2 R-HSA-5632927 Defective Mismatch Repair Associated With MSH3 R-HSA-5358508 Mismatch Repair R-HSA-5423599 Diseases of Mismatch Repair (MMR) R-HSA-73894 DNA Repair R-HSA-1643685 Disease
US Server
