Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
Protein Name: | MSH3 |
Gene Name: | MSH3 |
Protein Full Name: | DNA mismatch repair protein Msh3 |
Alias: | Divergent upstream protein; DUC1; DUP; Mismatch repair 1; Mismatch repair protein 1; MRP1; MutS 3 |
Mass (Da): | 127456 |
Number AA: | 1137 |
UniProt ID: | P20585 |
Locus ID: | 4437 |
COSMIC ID: | MSH3 |
Gene location on chromosome: | 5q11-q12 |
Cancer protein type: | TSP |
Effect of cancer mutation on protein: | LOSS |
Effect of active protein on cancer: | INHIBITS |
Number of cancer specimens: | 20272 |
Percent of cancer specimens with mutations: | 0.95 |
Mutations observed as inherited: | Hereditary non polyposis colorectal carcinoma (51%) |
Normal role description: | MSH3 is a DNA mismatch repair protein and a component of the post-replicative DNA mismatch repair system (MMR). It heterodimerizes with MSH2 to form MutS beta which can bind DNA mismatches and initiate DNA repair by bending the helix and shielding about 20 base pairs. After binding, the heterodimer complex with the MutL alpha heterodimer, which directs strand discrimination, excision, and re-synthesis. Defects in the gene leads to an increased susceptibility to endometrial-, colorectal- and gastric- cancers. |
Commentary on involvement of protein in cancer: | 1/186 breast-, 2/146 lung-, an 1/59 ovarian cancer samples were also mutated (Sanger COSMIC) |