MKL1, KIAA1438, MAL, MKL/myocardin-like protein 1, Megakaryoblastic leukemia 1 protein, Megakaryocytic acute leukemia protein, Myocardin-related transcription factor A, MRTF-A
The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013],disease:A chromosomal aberration involving MKL1 may be a cause of acute megakaryoblastic leukemia. Translocation t(1,22)(p13,q13) with RBM15. Although both reciprocal fusion transcripts are detected in acute megakaryoblastic leukemia (AMKL, FAB-M7), the RBM15-MKL1 chimeric protein has all the putative functional domains encoded by each gene and is the candidate oncogene.,domain:The N-terminal region is required for nuclear localization and the C-terminal region mediates transcriptional activity.,function:Transcriptional factor which uses the canonical single or multiple CArG boxes DNA sequence. Acts as a cofactor of serum response factor (SRF) and has the potential to modulate SRF-target genes. Suppresses TNF-induced cell death by inhibiting activation of caspases, its transcriptional activity is indispensable for the antiapoptotic function. It may up-regulate antiapoptotic molecules, which in turn inhibit caspase activation.,similarity:Contains 1 SAP domain.,similarity:Contains 2 RPEL repeats.,subunit:Forms a ternary complex with SRF on DNA. Interacts with MKL2.,tissue specificity:Ubiquitously expressed, has been detected in lung, placenta, small intestine, liver, kidney, spleen, thymus, colon, muscle, heart and brain.,
