MSH6
Sign in to saveAlso known as mutS homolog 6, GTBP, GTMBP, HNPCC5, HSAP, p160, MMRCS3, MSH-6
MSH6 or mutS homolog 6 is a gene that codes for DNA mismatch repair protein Msh6 in the budding yeast Saccharomyces cerevisiae. It is the homologue of the human "G/T binding protein," (GTBP) also called p160 or hMSH6 (human MSH6). The MSH6 protein is a member of the Mutator S (MutS) family of proteins that are involved in DNA damage repair.
Gene data
MSH6- Name
- mutS homolog 6
- Type
- protein-coding
- Position
- 47,695,530–47,810,109 (+)
- Aliases
- GTBP, GTMBP, HNPCC5, HSAP, LYNCH5, MMRCS3, MSH-6, p160
- Ensembl
- ENSG00000116062
- RefSeq RNA
- NM_000179.3, NM_001281492.2, NM_001281493.2, NM_001281494.2, NM_001406795.1
- RefSeq protein
- NP_000170.1, NP_001268421.1, NP_001268422.1, NP_001268423.1, NP_001393724.1
This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Wikidata facts
- Image
- Protein MSH6 PDB 2gfu.png
Show 5 more facts
- HomoloGene ID
- 149
- exact match
- identifiers.org/ncbigene/2956
- genomic end
- 47810063
- genomic start
- 47922669
- cytogenetic location
- 2p16.3
Sources (7)
via Wikidata · CC0
~6 min read
Article
12 sectionsContents
- Discovery
- Structure
- Function
- Importance of mismatch repair
- Mismatch recognition
- Cancer
- Epigenetic control of MSH6 in cancer
- Interactions
- See also
- References
- Further reading
- External links
MSH6 or mutS homolog 6 is a gene that codes for DNA mismatch repair protein Msh6 in the budding yeast Saccharomyces cerevisiae. It is the homologue of the human "G/T binding protein," (GTBP) also called p160 or hMSH6 (human MSH6). The MSH6 protein is a member of the Mutator S (MutS) family of proteins that are involved in DNA damage repair.
Defects in hMSH6 are associated with atypical hereditary nonpolyposis colorectal cancer not fulfilling the Amsterdam criteria for HNPCC. hMSH6 mutations have also been linked to endometrial cancer and the development of endometrial carcinomas.