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: | MKL1 |
| Gene Name: | MKL1 |
| Protein Full Name: | MKL/myocardin-like protein 1 |
| Alias: | Basic, SAP and coiled-coil domain; BSAC; KIAA1438; MAL; Megakaryoblastic leukemia (translocation) 1; Megakaryocytic acute leukemia; Megakaryocytic acute leukemia protein; MKL/myocardin-like 1; MKL/myocardin-like protein 1: Myocardin-related transcription factor A: Megakaryoblastic leukemia 1 protein: Megakaryocytic acute leukemia protein: MKL1 protein; MRTF-A; Myocardin-related transcription factor A |
| Mass (Da): | 98919 |
| Number AA: | 931 |
| UniProt ID: | Q969V6 |
| Locus ID: | 57591 |
| COSMIC ID: | MKL1 |
| Gene location on chromosome: | 22q13 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20146 |
| Percent of cancer specimens with mutations: | 0.68 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | t(1;22)(p13;q13) translocation with RBM15 in acute megakaryocytic leukemia |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | MKL1 is a transcriptional coactivator of serum response factor. It can suppress TNF-induced apoptosis by inhibiting the activation of various vaspases, possibly by upregulating the expression of antiapoptotic molecules. A t(1;22)(p13;q13) translocation with RBM15 has been observed in acute megakaryoblastic leukemia. |