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: | MRE11A |
| Gene Name: | MRE11A |
| Protein Full Name: | Double-strand break repair protein MRE11A |
| Alias: | ATLD; AT-like disease; HNGS1; MmMRE11A; MRE11; MRE11 homolog 1; MRE11 meiotic recombination 11 A; MRE11 meiotic recombination 11 homolog A |
| Mass (Da): | 80593 |
| Number AA: | 708 |
| UniProt ID: | P49959 |
| Locus ID: | 4361 |
| COSMIC ID: | MRE11A |
| Gene location on chromosome: | 11q21 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBIT |
| Number of cancer specimens: | 20490 |
| Percent of cancer specimens with mutations: | 0.6 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | MRE11A is a DNA repair protein involved in double-stranded break repair, DNA recombination, and the maintenance of telomere integrity and meiosis. It provides the MRN complex with single-stranded endonuclease activity and double-strand-specific 3'-5' exonuclease activity. The complex may also be required for DNA damage signalling via activation of the ATM kinase pathway. F237C and H302Y mutations have been associated in breast cancer samples. |