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: | MIXL1 |
| Gene Name: | MIXL1 |
| Protein Full Name: | Homeobox protein MIXL1 |
| Alias: | Homeodomain protein MIX; MIX; MIXL |
| Mass (Da): | 24659 |
| Number AA: | 232 |
| UniProt ID: | Q9H2W2 |
| Locus ID: | 83881 |
| COSMIC ID: | MIXL1 |
| Gene location on chromosome: | 1q42.12 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19625 |
| Percent of cancer specimens with mutations: | 0.09 |
| Normal role description: | MIXL1 is a paired-type homeobox transcription factor responsible for regulating cell fate during development. It plays a role in regulating proper axial mesendoderm morphogenesis and endoderm formation; in efficient cell differentiation from the primitive streak stage to blood, by acting early and recruiting/expanding mesodermal progenitors to the hemangioblastic- and hematopoietic lineages; and in the morphogenesis of the heart and gastrointestinal tract during embryogenesis. It is over-expressed in Hodgkin's lymphoma, B- & T-cell Non-Hodgkin's lymphomas, AML, CML, and B- & T-cell leukemias. |