MKL1

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MKL1
Protein MKL1 PDB 2KVU.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases MKL1, BSAC, MAL, MRTF-A, megakaryoblastic leukemia (translocation) 1, MKL
External IDs MGI: 2384495 HomoloGene: 32487 GeneCards: MKL1
Gene location (Human)
Chromosome 22 (human)
Chr. Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for MKL1
Genomic location for MKL1
Band 22q13.1-q13.2 Start 40,410,281 bp[1]
End 40,636,702 bp[1]
RNA expression pattern
PBB GE MKL1 212748 at fs.png

PBB GE MKL1 215292 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001282660
NM_001282661
NM_001282662
NM_020831
NM_001318139

NM_001082536
NM_153049

RefSeq (protein)

NP_001269589
NP_001269590
NP_001269591
NP_001305068
NP_065882

NP_001076005
NP_694629

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

MKL/megakaryoblastic leukemia 1 is a protein that in humans is encoded by the MKL1 gene.[5][6][7][8]

Function[edit]

l 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]

References[edit]

  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:". 
  4. ^ "Mouse PubMed Reference:". 
  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 137508Freely accessible. 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]