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: | FOXO1A |
| Gene Name: | FOXO1 |
| Protein Full Name: | Forkhead box protein O1 |
| Alias: | FKH1; FKHR; Forkhead box O1; Forkhead box O1A (FKHR); Forkhead box protein O1A; Forkhead in rhabdomyosarcoma; FOXO1 |
| Mass (Da): | 69662 |
| Number AA: | 655 |
| UniProt ID: | Q12778 |
| Locus ID: | 2308 |
| COSMIC ID: | FOXO1 |
| Gene location on chromosome: | 13q14.11 |
| Cancer protein type: | OP/TSP |
| Effect of cancer mutation on protein: | MIXED |
| Effect of active protein on cancer: | MIXED |
| Number of cancer specimens: | 1287 |
| Percent of cancer specimens with mutations: | 0.2331002331 |
| Deregulated in translocations: | FOXO1 -> PAX3 t(2;13)(q35;q14) translocation in 379/983 samples (39%); and PAX7 -> FOXO1 t(1;13)(p36;q14) translocation in 99/874 samples (11%) of myogenic soft tissue cancer alveolar rhabdomyosarcoma. |
| Normal role description: | FOXO1A is a transcription factor which regulates cell responses to oxidative stress. In the presence of KIRT1, it mediates down-regulation of cyclin D1 and up-regulation of CDKN1B levels which are required for cell transition from proliferative growth to quiescence. It triggers death of postmitotic neurons when phosphorylated by CDK1. Translocations of this gene with PAX3 or PAX7 have been associated with alveolar rhabdomyosarcoma, a highly malignant tumour of striated muscle derived from primitive mesenchimal cells, whereas chromosomal deletions including the gene have been observed in prostate cancer, and it is significantly down-regulated in endometrial cancers, suggesting that its role in cancer is tissue-specific and that it can function both as an oncoprotein and a tumour suppressor. |