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: | Mpl |
| Gene Name: | MPL |
| Protein Full Name: | Thrombopoietin receptor |
| Alias: | CD110; CD110 antigen; C-mpl; MPL; Myeloproliferative leukemia protein; Myeloproliferative leukemia virus oncogene; Myeloproliferative leukemia virus oncogene, thrombopoietin receptor; TPOR; TPO-R |
| Mass (Da): | 71245 |
| Number AA: | 635 |
| UniProt ID: | P40238; Q5JUY5 |
| Locus ID: | 4352 |
| COSMIC ID: | MPL |
| Gene location on chromosome: | 1p34.2 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 46130 |
| Percent of cancer specimens with mutations: | 2.27 |
| General distribution of mutations: | Narrow |
| Location of most mutations: | One main cluster at AA 505-528 with point mutations, and complex mutations and insertions nearby. |
| Commonly recorded point mutations: | W515L (405); W515K (112) |
| Transduced into viral genome: | Myeloproliferative leukemia virus - Mouse |
| Normal role description: | MPL is a receptor for the secreted glycoprotein thrombopoietin. MPL signals through JAK family tyrosine kinase to activate MAPK and STAT transcription factor signalling. This receptor is an activator of megakaryocytopoiesis and platelet formation. A viral oncogene form of MPL murine myeloproliferative leukemia virus could cause transformation of bone marrow hematopoietic cells. Gain-of-function mutations of cellular MPL may result in myeloproliferative diseases including acute myeloid leukemias. |
| Commentary on involvement of protein in cancer: | W515 is located at the beginning of the cytoplasmic domain of the thrombopoietin receptor. |