MKL1

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Megakaryoblastic leukemia (translocation) 1
Protein MKL1 PDB 2KVU.png
Rendering based on PDB 2KVU.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols MKL1 ; BSAC; MAL; MRTF-A
External IDs OMIM606078 MGI2384495 HomoloGene32487 GeneCards: MKL1 Gene
RNA expression pattern
PBB GE MKL1 212748 at tn.png
PBB GE MKL1 215292 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 57591 223701
Ensembl ENSG00000196588 ENSMUSG00000042292
UniProt Q969V6 Q8K4J6
RefSeq (mRNA) NM_001282660 NM_001082536
RefSeq (protein) NP_001269589 NP_001076005
Location (UCSC) Chr 22:
40.41 – 40.64 Mb
Chr 15:
81.01 – 81.19 Mb
PubMed search [1] [2]

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

Function[edit]

The protein encoded by this gene interacts with the transcription factor serum response factor,[5] a key regulator of smooth muscle cell differentiation. It is closely related to MKL2 and myocardin.[6] The encoded protein can shuttle between the cytoplasm and the nucleus, and may help this way transduce signals from the cytoskeleton to the nucleus.[7]

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.[4]

References[edit]

  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 (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. 
  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". The Journal of Biological Chemistry 277 (32): 28853–60. doi:10.1074/jbc.M203190200. PMID 12019265. 
  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". The Journal of Biological Chemistry 279 (17): 17578–86. doi:10.1074/jbc.M400961200. PMID 14970199. 
  4. ^ a b "Entrez Gene: MKL1 megakaryoblastic leukemia (translocation) 1". 
  5. ^ 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. 
  6. ^ 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. 
  7. ^ 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]