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: | PML |
| Gene Name: | PML |
| Protein Full Name: | Probable transcription factor PML |
| Alias: | MYL; Promyelocytic leukemia; RNF71; TRIM19; Tripartite motif protein 19; Tripartite motif-containing protein 19 |
| Mass (Da): | 97551 |
| Number AA: | 882 |
| UniProt ID: | P29590 |
| Locus ID: | 5371 |
| COSMIC ID: | PML |
| Gene location on chromosome: | 15q22; 15q24 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20418 |
| Percent of cancer specimens with mutations: | 0.69 |
| Deregulated in translocations: | Acute promyelocytic leukemia. Fusion partners include RAR. |
| Normal role description: | PML is a transcription factor found to localize to subnuclear PML nuclear bodies or PML oncogenic domains. PML may have a role in regulating apoptosis and tumour suppression through regulation of p53 and inhibition of AKT kinase and mTOR. PML appears to maintain quiescent in normal cells and dysfunction of this protein may lead to active cell proliferation. The PML gene locus can participate in a translocation event with RARA to create an oncogenic fusion protein implicated in acute promyelocytic leukemia. This fusion protein was found to interact with TIF1alpha and CREB-binding protein transcriptional activators to activate transcription in a retinoic-acid dependent manner. The PML-RARA fusion also inhibits transcriptional repressors such as MAD leading to increased tumorigenicity. |