Protein-coding gene in the species Homo sapiens
MKL/megakaryoblastic leukemia 1 (also termed MRTFA/myocardin related transcription factor A) is aprotein that in humans is encoded by theMKL1 gene .[ 5] [ 6] [ 7] [ 8]
The protein encoded by this gene is regulated by the actin cytoskeleton and is shuttled between the cytoplasm and the nucleus as a result of actin dynamics.[ 9] serum response factor ,[ 10] MKL2 andmyocardin , with which it shares five key conserved structural domains.[ 11]
Clinical significance [ edit ] 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 withacute megakaryocytic leukemia .[ 8] [ 12]
EvalartedMKL1 expression is observed in breast cancer and can predict chemosensitivity and patient survival. MKL1 may be a promising biomarker of clinical value for breast cancer.[ 13]
^a b c GRCh38: Ensembl release 89: ENSG00000196588 –Ensembl , May 2017^a b c GRCm38: Ensembl release 89: ENSMUSG00000042292 –Ensembl , May 2017^ "Human PubMed Reference:" .National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" .National Center for Biotechnology Information, U.S. National Library of Medicine .^ Ma Z, Morris SW, Valentine V, Li M, Herbrick JA, Cui X, et al. (July 2001). "Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia".Nature Genetics .28 (3):220– 221.doi :10.1038/90054 .PMID 11431691 .S2CID 36236342 . ^ Sasazuki T, Sawada T, Sakon S, Kitamura T, Kishi T, Okazaki T, et al. (August 2002)."Identification of a novel transcriptional activator, BSAC, by a functional cloning to inhibit tumor necrosis factor-induced cell death" .The Journal of Biological Chemistry .277 (32):28853– 28860.doi :10.1074/jbc.M203190200 PMID 12019265 . ^ Du KL, Chen M, Li J, Lepore JJ, Mericko P, Parmacek MS (April 2004)."Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells" .The Journal of Biological Chemistry .279 (17):17578– 17586.doi :10.1074/jbc.M400961200 PMID 14970199 . ^a b "Entrez Gene: MKL1 megakaryoblastic leukemia (translocation) 1" .^ Vartiainen MK, Guettler S, Larijani B, Treisman R (June 2007). "Nuclear actin regulates dynamic subcellular localization and activity of the SRF cofactor MAL".Science .316 (5832):1749– 1752.Bibcode :2007Sci...316.1749V .doi :10.1126/science.1141084 .PMID 17588931 .S2CID 44910416 . ^ Miralles F, Posern G, Zaromytidou AI, Treisman R (May 2003)."Actin dynamics control SRF activity by regulation of its coactivator MAL" .Cell .113 (3):329– 342.doi :10.1016/S0092-8674(03)00278-2 PMID 12732141 . ^ Wang DZ, Li S, Hockemeyer D, Sutherland L, Wang Z, Schratt G, et al. (November 2002)."Potentiation of serum response factor activity by a family of myocardin-related transcription factors" .Proceedings of the National Academy of Sciences of the United States of America .99 (23):14855– 14860.Bibcode :2002PNAS...9914855W .doi :10.1073/pnas.222561499 PMC 137508 PMID 12397177 . ^ Cheng EC, Luo Q, Bruscia EM, Renda MJ, Troy JA, Massaro SA, et al. (March 2009)."Role for MKL1 in megakaryocytic maturation" .Blood .113 (12):2826– 2834.doi :10.1182/blood-2008-09-180596 .PMC 2661865 PMID 19136660 . ^ Hua Y, Yang M (June 2022)."The prognostic value of MKL1 in predicting breast cancer immune infiltrates and chemosensitivity" .Bosnian Journal of Basic Medical Sciences .22 (3):382– 394.doi :10.17305/bjbms.2021.6306 .PMC 9162751 PMID 34761735 . Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T (June 2002)."Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones" .DNA Research .9 (3):99– 106.doi :10.1093/dnares/9.3.99 PMID 12168954 . Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, et al. (December 1999)."The DNA sequence of human chromosome 22" .Nature .402 (6761):489– 495.Bibcode :1999Natur.402..489D .doi :10.1038/990031 PMID 10591208 . Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (February 2000)."Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro" .DNA Research .7 (1):65– 73.doi :10.1093/dnares/7.1.65 PMID 10718198 . Mercher T, Coniat MB, Monni R, Mauchauffe M, Nguyen Khac F, Gressin L, et al. (May 2001)."Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia" .Proceedings of the National Academy of Sciences of the United States of America .98 (10):5776– 5779.Bibcode :2001PNAS...98.5776M .doi :10.1073/pnas.101001498 PMC 33289 PMID 11344311 . Wang D, Chang PS, Wang Z, Sutherland L, Richardson JA, Small E, et al. (June 2001)."Activation of cardiac gene expression by myocardin, a transcriptional cofactor for serum response factor" .Cell .105 (7):851– 862.doi :10.1016/S0092-8674(01)00404-4 PMID 11439182 . Wang DZ, Li S, Hockemeyer D, Sutherland L, Wang Z, Schratt G, et al. (November 2002)."Potentiation of serum response factor activity by a family of myocardin-related transcription factors" .Proceedings of the National Academy of Sciences of the United States of America .99 (23):14855– 14860.Bibcode :2002PNAS...9914855W .doi :10.1073/pnas.222561499 PMC 137508 PMID 12397177 . Cen B, Selvaraj A, Burgess RC, Hitzler JK, Ma Z, Morris SW, Prywes R (September 2003)."Megakaryoblastic leukemia 1, a potent transcriptional coactivator for serum response factor (SRF), is required for serum induction of SRF target genes" .Molecular and Cellular Biology .23 (18):6597– 6608.doi :10.1128/MCB.23.18.6597-6608.2003 .PMC 193697 PMID 12944485 . Selvaraj A, Prywes R (October 2003)."Megakaryoblastic leukemia-1/2, a transcriptional co-activator of serum response factor, is required for skeletal myogenic differentiation" .The Journal of Biological Chemistry .278 (43):41977– 41987.doi :10.1074/jbc.M305679200 PMID 14565952 . 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(May 2005)."RBM15-MKL1 (OTT-MAL) fusion transcript in an adult acute myeloid leukemia patient" .American Journal of Hematology .79 (1):43– 45.doi :10.1002/ajh.20298 PMID 15849773 .S2CID 30859557 . Nakagawa K, Kuzumaki N (August 2005)."Transcriptional activity of megakaryoblastic leukemia 1 (MKL1) is repressed by SUMO modification" .Genes to Cells .10 (8):835– 850.doi :10.1111/j.1365-2443.2005.00880.x PMID 16098147 . 
