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: | MLH1 |
| Gene Name: | MLH1 |
| Protein Full Name: | DNA mismatch repair protein Mlh1 |
| Alias: | COCA2; E.coli MutL homolog gene; FCC2; HNPCC; HNPCC2; MutL 1; MutL protein homologue 1 |
| Mass (Da): | 84601 |
| Number AA: | 756 |
| UniProt ID: | P40692 |
| Locus ID: | 4292 |
| COSMIC ID: | MLH1 |
| Gene location on chromosome: | 3p21.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 22229 |
| Percent of cancer specimens with mutations: | 1.26 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations and deletions, but only 1 insertion and only 1 complex mutations across the entire protein. |
| Mutations observed as inherited: | Colorectal cancer (without polyposis). |
| Gene undergoes hypermethylation: | Colon, endometrial and gastric tumours. |
| Normal role description: | MLH1 is part of the mismatch DNA repair system. It has no enzymatic activity on its own. It requires binding to PMS2, PMS1 or MLH3 to recognize mismatched bases in DNA and recruit necessary DNA repair proteins. Loss of function results in genomic instability and oncogenesis. |