MKL1

From Wikipedia, the free encyclopedia


Megakaryoblastic leukemia (translocation) 1
Identifiers
Symbol(s) MKL1; MAL; BSAC; MRTF-A
External IDs OMIM: 606078 MGI2384495 HomoloGene32487
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 57591 223701
Ensembl ENSG00000196588 ENSMUSG00000042292
Uniprot Q969V6 Q3U1I6
Refseq NM_020831 (mRNA)
NP_065882 (protein)
NM_153049 (mRNA)
NP_694629 (protein)
Location Chr 22: 39.14 - 39.36 Mb Chr 15: 80.84 - 80.87 Mb
Pubmed search [1] [2]

Megakaryoblastic leukemia (translocation) 1, also known as MKL1, is a human gene.[1]

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.[1]

[edit] References

[edit] 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. PMID 12168954. 
  • Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208. 
  • 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. PMID 10718198. 
  • 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. doi:10.1073/pnas.101001498. PMID 11344311. 
  • Ma Z, Morris SW, Valentine V, et al. (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. doi:10.1038/90054. PMID 11431691. 
  • 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. PMID 11439182. 
  • Sasazuki T, Sawada T, Sakon S, et al. (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. doi:10.1074/jbc.M203190200. PMID 12019265. 
  • 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. doi:10.1073/pnas.222561499. PMID 12397177. 
  • 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. doi:10.1073/pnas.242603899. PMID 12477932. 
  • 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. PMID 12944485. 
  • 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. doi:10.1074/jbc.M305679200. PMID 14565952. 
  • 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. doi:10.1038/ng1285. PMID 14702039. 
  • Du KL, Chen M, Li J, et al. (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. doi:10.1074/jbc.M400961200. PMID 14970199. 
  • 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. doi:10.1073/pnas.0404720101. PMID 15302935. 
  • 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. doi:10.1186/1471-2199-5-13. PMID 15329155. 
  • Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMID 15461802. 
  • 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. doi:10.1101/gr.2596504. PMID 15489334. 
  • 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. doi:10.1002/ajh.20298. PMID 15849773. 
  • Nakagawa K, Kuzumaki N (2005). "Transcriptional activity of megakaryoblastic leukemia 1 (MKL1) is repressed by SUMO modification.". Genes Cells 10 (8): 835–50. doi:10.1111/j.1365-2443.2005.00880.x. PMID 16098147.