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: | MECOM |
Gene Name: | MECOM |
Protein Full Name: | MDS1 and EVI1 complex locus protein EVI1 |
Alias: | AML1-EVI-1; Ecotropic viral integration site 1; EVI-1; MDS1; MDS1 and EVI1 complex locus; MDS1-EVI1; MGC163392; PRDM3 |
Mass (Da): | 118276 |
Number AA: | 1051 |
UniProt ID: | Q03112 |
Locus ID: | 2122 |
COSMIC ID: | MECOM |
Gene location on chromosome: | 3q26.2 |
Cancer protein type: | OP |
Effect of cancer mutation on protein: | GAIN |
Effect of active protein on cancer: | PROMOTES |
Number of cancer specimens: | 19548 |
Percent of cancer specimens with mutations: | 1.1 |
Deregulated in translocations: | Translocation t(3;21)(q26;q22) --> AML1-MDS1-EVI1 in Therapy-related MDS/AML and CML during the blast crisis; t(3;12)(q26;p13) --> MDS1/EVI1 fusion protein driven by the TEL promoter in CML during the blast crisis and MDS in transformation |
Normal role description: | MECOM functions as a transcriptional regulator and is an oncoprotein involved in hematopoiesis, organogenesis, apoptosis, cell development, differentiation and proliferation. It has also been found to inhibit c-jun N-terminal kinase, and to stimulate the PI3K/AKT signalling pathway. It can undergo translocations AML1, resulting in overexpression and the development of leukemia. |