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Title: Mkl1  
Author: World Heritage Encyclopedia
Language: English
Subject: Acute megakaryoblastic leukemia, Chromosomal abnormalities, 46, XX/XY, Ring chromosome 20 syndrome, XXXY syndrome
Publisher: World Heritage Encyclopedia


Megakaryoblastic leukemia (translocation) 1

Rendering based on PDB .
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols  ; BSAC; MAL; MRTF-A
External IDs GeneCards:
RNA expression pattern
Species Human Mouse
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

MKL/megakaryoblastic leukemia 1 is a protein that in humans is encoded by the MKL1 gene.[1][2][3][4] 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.[4]


  1. ^ Ma Z, Morris SW, Valentine V, Li M, Herbrick JA, Cui X, Bouman D, Li Y, Mehta PK, Nizetic D, Kaneko Y, Chan GC, Chan LC, Squire J, Scherer SW, Hitzler JK (Jun 2001). "Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia". Nat Genet 28 (3): 220–1.  
  2. ^ Sasazuki T, Sawada T, Sakon S, Kitamura T, Kishi T, Okazaki T, Katano M, Tanaka M, Watanabe M, Yagita H, Okumura K, Nakano H (Aug 2002). "Identification of a novel transcriptional activator, BSAC, by a functional cloning to inhibit tumor necrosis factor-induced cell death". J Biol Chem 277 (32): 28853–60.  
  3. ^ Du KL, Chen M, Li J, Lepore JJ, Mericko P, Parmacek MS (Apr 2004). "Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells". J Biol Chem 279 (17): 17578–86.  
  4. ^ a b "Entrez Gene: MKL1 megakaryoblastic leukemia (translocation) 1". 

Further reading

  • Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.". DNA Res. 9 (3): 99–106.  
  • Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489–95.  
  • Nagase T, Kikuno R, Ishikawa KI, et al. (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 Res. 7 (1): 65–73.  
  • Mercher T, Coniat MB, Monni R, et al. (2001). "Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia.". Proc. Natl. Acad. Sci. U.S.A. 98 (10): 5776–9.  
  • Wang D, Chang PS, Wang Z, et al. (2001). "Activation of cardiac gene expression by myocardin, a transcriptional cofactor for serum response factor.". Cell 105 (7): 851–62.  
  • Wang DZ, Li S, Hockemeyer D, et al. (2003). "Potentiation of serum response factor activity by a family of myocardin-related transcription factors.". Proc. Natl. Acad. Sci. U.S.A. 99 (23): 14855–60.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903.  
  • Cen B, Selvaraj A, Burgess RC, et al. (2003). "Megakaryoblastic leukemia 1, a potent transcriptional coactivator for serum response factor (SRF), is required for serum induction of SRF target genes.". Mol. Cell. Biol. 23 (18): 6597–608.  
  • Selvaraj A, Prywes R (2004). "Megakaryoblastic leukemia-1/2, a transcriptional co-activator of serum response factor, is required for skeletal myogenic differentiation.". J. Biol. Chem. 278 (43): 41977–87.  
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5.  
  • Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins.". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5.  
  • Selvaraj A, Prywes R (2005). "Expression profiling of serum inducible genes identifies a subset of SRF target genes that are MKL dependent.". BMC Mol. Biol. 5: 13.  
  • Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84.  
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7.  
  • Hsiao HH, Yang MY, Liu YC, et al. (2005). "RBM15-MKL1 (OTT-MAL) fusion transcript in an adult acute myeloid leukemia patient.". Am. J. Hematol. 79 (1): 43–5.  
  • Nakagawa K, Kuzumaki N (2005). "Transcriptional activity of megakaryoblastic leukemia 1 (MKL1) is repressed by SUMO modification.". Genes Cells 10 (8): 835–50.  
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