MKL1

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MRTFA
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
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
Orthologs
SpeciesHumanMouse
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 MbChr 15: 80.9 – 81.07 Mb
PubMed search[3][4]
Wikidata
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]

Function

The protein encoded by this gene is regulated by the actin cytoskeleton and is shuttled between the cytoplasm and the nucleus as a result of actin dynamics.[9] In the nucleus, it coactivates the transcription factor serum response factor,[10] a key regulator of smooth muscle cell differentiation, in an interaction mediated by its Basic domain. It is closely related to MKL2 and myocardin, with which it shares five key conserved structural domains.[11]

Clinical significance

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] It also functions in the process of normal megakaryocyte maturation.[12]

Research

Evalarted MKL1 expression is observed in breast cancer and can predict chemosensitivity and patient survival. MKL1 may be a promising biomarker of clinical value for breast cancer.[13]

See also

References

  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, et al. (July 2001). "Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia". Nature Genetics. 28 (3): 220–221. doi:10.1038/90054. PMID 11431691. S2CID 36236342.
  6. ^ Sasazuki T, Sawada T, Sakon S, Kitamura T, Kishi T, Okazaki T, et al. (August 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): 28853–28860. doi:10.1074/jbc.M203190200. PMID 12019265.
  7. ^ Du KL, Chen M, Li J, Lepore JJ, Mericko P, Parmacek MS (April 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): 17578–17586. doi:10.1074/jbc.M400961200. PMID 14970199.
  8. ^ a b "Entrez Gene: MKL1 megakaryoblastic leukemia (translocation) 1".
  9. ^ Vartiainen MK, Guettler S, Larijani B, Treisman R (June 2007). "Nuclear actin regulates dynamic subcellular localization and activity of the SRF cofactor MAL". Science. 316 (5832): 1749–1752. Bibcode:2007Sci...316.1749V. doi:10.1126/science.1141084. PMID 17588931. S2CID 44910416.
  10. ^ Miralles F, Posern G, Zaromytidou AI, Treisman R (May 2003). "Actin dynamics control SRF activity by regulation of its coactivator MAL". Cell. 113 (3): 329–342. doi:10.1016/S0092-8674(03)00278-2. PMID 12732141.
  11. ^ Wang DZ, Li S, Hockemeyer D, Sutherland L, Wang Z, Schratt G, et al. (November 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): 14855–14860. Bibcode:2002PNAS...9914855W. doi:10.1073/pnas.222561499. PMC 137508. PMID 12397177.
  12. ^ Cheng EC, Luo Q, Bruscia EM, Renda MJ, Troy JA, Massaro SA, et al. (March 2009). "Role for MKL1 in megakaryocytic maturation". Blood. 113 (12): 2826–2834. doi:10.1182/blood-2008-09-180596. PMC 2661865. PMID 19136660.
  13. ^ Hua Y, Yang M (June 2022). "The prognostic value of MKL1 in predicting breast cancer immune infiltrates and chemosensitivity". Bosnian Journal of Basic Medical Sciences. 22 (3): 382–394. doi:10.17305/bjbms.2021.6306. PMC 9162751. PMID 34761735.

Further reading