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Protein MKL1 PDB 2KVU.png
Available structures
PDBOrtholog search: PDBe RCSB
AliasesMRTFA, BSAC, MAL, MRTF-A, megakaryoblastic leukemia (translocation) 1, MKL, MKL1, myocardin related transcription factor A
External IDsOMIM: 606078 MGI: 2384495 HomoloGene: 32487 GeneCards: MRTFA
Gene location (Human)
Chromosome 22 (human)
Chr.Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for MRTFA
Genomic location for MRTFA
Band22q13.1-q13.2Start40,410,281 bp[1]
End40,636,719 bp[1]
RNA expression pattern
PBB GE MKL1 212748 at fs.png

PBB GE MKL1 215292 s at fs.png
More reference expression data
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)Chr 22: 40.41 – 40.64 MbChr 15: 81.01 – 81.19 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

MKL/megakaryoblastic leukemia 1 (also termed MRTFA/myocardin related transcription factor A) is a protein that in humans is encoded by the MKL1 gene.[5][6][7][8]


The protein encoded by this gene interacts with the transcription factor serum response factor,[9] a key regulator of smooth muscle cell differentiation. It is closely related to MKL2 and myocardin.[10] The encoded protein can shuttle between the cytoplasm and the nucleus, and may help this way transduce signals from the cytoskeleton to the nucleus.[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 with acute megakaryocytic leukemia.[8]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000196588 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042292 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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 (Jul 2001). "Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia". Nature Genetics. 28 (3): 220–1. doi:10.1038/90054. PMID 11431691.
  6. ^ 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". The Journal of Biological Chemistry. 277 (32): 28853–60. doi:10.1074/jbc.M203190200. PMID 12019265.
  7. ^ 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". The Journal of Biological Chemistry. 279 (17): 17578–86. doi:10.1074/jbc.M400961200. PMID 14970199.
  8. ^ a b "Entrez Gene: MKL1 megakaryoblastic leukemia (translocation) 1".
  9. ^ Miralles F, Posern G, Zaromytidou AI, Treisman R (May 2003). "Actin dynamics control SRF activity by regulation of its coactivator MAL". Cell. 113 (3): 329–42. doi:10.1016/S0092-8674(03)00278-2. PMID 12732141.
  10. ^ Wang DZ, Li S, Hockemeyer D, Sutherland L, Wang Z, Schratt G, Richardson JA, Nordheim A, Olson EN (Nov 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): 14855–60. doi:10.1073/pnas.222561499. PMC 137508. PMID 12397177.
  11. ^ Vartiainen MK, Guettler S, Larijani B, Treisman R (Jun 2007). "Nuclear actin regulates dynamic subcellular localization and activity of the SRF cofactor MAL". Science. 316 (5832): 1749–52. doi:10.1126/science.1141084. PMID 17588931.

Further reading[edit]