Megakaryoblastic leukemia (translocation) 1 (MKL1) is a gene that encodes a protein that functions in the interaction with myocardin - a transcription factor and regulator of smooth muscle differentiation. The protein may also perpetuate cell signals from the cytoskeleton to the nucleus. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame insertions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.
MKL1 is altered in 0.20% of all cancers with endometrial endometrioid adenocarcinoma, high grade ovarian serous adenocarcinoma, pancreatic adenocarcinoma, rectal adenocarcinoma, and appendix adenocarcinoma having the greatest prevalence of alterations .
The most common alterations in MKL1 are MKL1 A505T (0.39%), MKL1 A697V (0.22%), MKL1 A795V (0.22%), MKL1 D474G (7.69%), and MKL1 G389R (0.39%) .
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.