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: | CEBPA |
| Gene Name: | CEBPA |
| Protein Full Name: | CCAAT/enhancer-binding protein alpha |
| Mass (Da): | 37561 |
| Number AA: | 358 |
| UniProt ID: | P49715 |
| Locus ID: | 1050 |
| COSMIC ID: | CEBPA |
| Gene location on chromosome: | 19q13.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 29972 |
| Percent of cancer specimens with mutations: | 2.34 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, complex mutations, insertions and deletions over entire protein length. |
| Mutations observed as inherited: | Familial AML |
| Deregulated in translocations: | AML1-ETO ; AML1-MDS1-EVI1; BCR-ABL (these three fusion proteins downregulate CEBPA; t(14;19)(q32;q13) |
| Normal role description: | Involved in terminal differentiation of hematopoeic cell lines through transcription activation. Mutation and loss of function well described in AML types M1 and M2. This oncogenesis is presumably mediated through the loss of ability of hematopoietic precursors to commit to normal developement. Fusion proteins listed block normal transcription activation of CEBPA supporting its role as a tumour suppressor protein. |