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: | MLF1 |
Gene Name: | MLF1 |
Protein Full Name: | Myeloid leukemia factor 1 |
Alias: | Myelodysplasia-myeloid leukemia factor 1; Myeloid leukemia factor 1 variant 1; Myeloid leukemia factor 1 variant 2; Myeloid leukemia factor 1 variant 3 |
Mass (Da): | 30627 |
Number AA: | 268 |
UniProt ID: | P58340 |
Locus ID: | 4291 |
COSMIC ID: | MLF1 |
Gene location on chromosome: | 3q25 |
Cancer protein type: | OP |
Effect of cancer mutation on protein: | GAIN |
Effect of active protein on cancer: | PROMOTES |
Number of cancer specimens: | 20357 |
Percent of cancer specimens with mutations: | 0.01 |
Deregulated in translocations: | t(3;5)(q25;q34) creates a fusion gene (5' NPM1-3' MLF1) which can cause/contribute to: acute non lymphocytic leukemia (ANLL), myeloproliferative disorders (MPS), or myelodysplastic syndromes (MDS). |
Normal role description: | MLF1 is likely a transcription factor that plays a role in the phenotypic determination of hemopoetic cells; it does this by inhibiting p27Kip (an inhibitor of CDKs) and thus inhibits the exit from the cell cycle. Doing this counteracts the differentiation signal given by erythropoietin. Translocations of this gene are associated with: acute non lymphocytic leukemia (ANLL), myeloproliferative disorders (MPS), and myelodysplastic syndromes (MDS). |
Commentary on involvement of protein in cancer: | Involved in lineage commitment of primary hemopoietic progenitors by restricting erythroid formation and enhancing myeloid formation. Interferes with erythropoietin-induced erythroid terminal differentiation by preventing cells from exiting the cell cycle through suppression of CDKN1B/p27Kip1 levels. Suppresses RFWD2/COP1 activity via CSN3 which activates p53 and induces cell cycle arrest. Binds DNA and affects the expression of a number of genes so may function as a transcription factor in the nucleus. |