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: | MAD2L1 |
| Gene Name: | MAD2L1 |
| Protein Full Name: | Mitotic spindle assembly checkpoint protein MAD2A |
| Alias: | HSMAD2; MAD2; MAD2 (mitotic arrest deficient, yeast, homolog)-like 1; MAD2 mitotic arrest deficient-like 1; MAD2 mitotic arrest deficient-like 1 (yeast); MAD2-like 1; MAD2-like protein 1; MD2L1; Mitotic arrest deficient, yeast, homolog-like 1 |
| Mass (Da): | 23510 |
| Number AA: | 205 |
| UniProt ID: | Q13257 |
| Locus ID: | 4085 |
| COSMIC ID: | MAD2L1 |
| Gene location on chromosome: | 4q27 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | INHIBIT |
| Number of cancer specimens: | 19718 |
| Percent of cancer specimens with mutations: | 0.17 |
| 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: | MAD2L1 is a component of the spindle-assembly checkpoint complex that prevents anaphase until all chromosomes are properly aligned during metaphase. It is therefore involved as a checkpoint protein at the G2/M transition and monitors kinetochore-spindle attachment and inhibits the anaphase promoting complex by sequestering CDC20 until metaphase is complete. |