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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''MKL/megakaryoblastic leukemia 1''' is a [[protein]] that in humans is encoded by the ''MKL1'' [[gene]].<ref name="pmid11431691">{{cite journal | vauthors = 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 | title = Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia | journal = Nature Genetics | volume = 28 | issue = 3 | pages = 220–1 | date = Jul 2001 | pmid = 11431691 | pmc =  | doi = 10.1038/90054 }}</ref><ref name="pmid12019265">{{cite journal | vauthors = Sasazuki T, Sawada T, Sakon S, Kitamura T, Kishi T, Okazaki T, Katano M, Tanaka M, Watanabe M, Yagita H, Okumura K, Nakano H | title = Identification of a novel transcriptional activator, BSAC, by a functional cloning to inhibit tumor necrosis factor-induced cell death | journal = The Journal of Biological Chemistry | volume = 277 | issue = 32 | pages = 28853–60 | date = Aug 2002 | pmid = 12019265 | pmc =  | doi = 10.1074/jbc.M203190200 }}</ref><ref name="pmid14970199">{{cite journal | vauthors = Du KL, Chen M, Li J, Lepore JJ, Mericko P, Parmacek MS | title = Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells | journal = The Journal of Biological Chemistry | volume = 279 | issue = 17 | pages = 17578–86 | date = Apr 2004 | pmid = 14970199 | pmc = | doi = 10.1074/jbc.M400961200 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MKL1 megakaryoblastic leukemia (translocation) 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57591| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
l
| image =
The protein encoded by this gene interacts with the transcription factor [[serum response factor]],<ref>{{cite journal | vauthors = Miralles F, Posern G, Zaromytidou AI, Treisman R | title = Actin dynamics control SRF activity by regulation of its coactivator MAL | journal = Cell | volume = 113 | issue = 3 | pages = 329–42 | date = May 2003 | pmid = 12732141 | doi = 10.1016/S0092-8674(03)00278-2 }}</ref> a key regulator of smooth muscle cell differentiation. It is closely related to [[MKL2]] and [[myocardin]].<ref>{{cite journal | vauthors = Wang DZ, Li S, Hockemeyer D, Sutherland L, Wang Z, Schratt G, Richardson JA, Nordheim A, Olson EN | title = Potentiation of serum response factor activity by a family of myocardin-related transcription factors | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 99 | issue = 23 | pages = 14855–60 | date = Nov 2002 | pmid = 12397177 | doi = 10.1073/pnas.222561499 | pmc=137508}}</ref> The encoded protein can shuttle between the cytoplasm and the nucleus, and may help this way transduce signals from the cytoskeleton to the nucleus.<ref>{{cite journal | vauthors = Vartiainen MK, Guettler S, Larijani B, Treisman R | title = Nuclear actin regulates dynamic subcellular localization and activity of the SRF cofactor MAL | journal = Science | volume = 316 | issue = 5832 | pages = 1749–52 | date = Jun 2007 | pmid = 17588931 | doi = 10.1126/science.1141084 }}</ref>
| image_source =
| PDB =  
| Name = Megakaryoblastic leukemia (translocation) 1
| HGNCid = 14334
| Symbol = MKL1
| AltSymbols =; MAL; BSAC; MRTF-A
| OMIM = 606078
| ECnumber =
| Homologene = 32487
| MGIid = 2384495
| GeneAtlas_image1 = PBB_GE_MKL1_212748_at_tn.png
| GeneAtlas_image2 = PBB_GE_MKL1_215292_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003676 |text = nucleic acid binding}} {{GNF_GO|id=GO:0003713 |text = transcription coactivator activity}} {{GNF_GO|id=GO:0003779 |text = actin binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0006916 |text = anti-apoptosis}} {{GNF_GO|id=GO:0045941 |text = positive regulation of transcription}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 57591
    | Hs_Ensembl = ENSG00000196588
    | Hs_RefseqProtein = NP_065882
    | Hs_RefseqmRNA = NM_020831
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = 22
    | Hs_GenLoc_start = 39136252
    | Hs_GenLoc_end = 39362651
    | Hs_Uniprot = Q969V6
    | Mm_EntrezGene = 223701
    | Mm_Ensembl = ENSMUSG00000042292
    | Mm_RefseqmRNA = NM_153049
    | Mm_RefseqProtein = NP_694629
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 15
    | Mm_GenLoc_start = 80840540
    | Mm_GenLoc_end = 80872613
    | Mm_Uniprot = Q3U1I6
  }}
}}
'''Megakaryoblastic leukemia (translocation) 1''', also known as '''MKL1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: MKL1 megakaryoblastic leukemia (translocation) 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57591| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Clinical significance ==
{{PBB_Summary
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: MKL1 megakaryoblastic leukemia (translocation) 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57591| accessdate = }}</ref>
}}


==References==
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]].<ref name="entrez"/>
{{reflist|2}}
 
==Further reading==
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Nakajima D, Okazaki N, Yamakawa H, Kikuno R, Ohara O, Nagase T | title = Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones | journal = DNA Research | volume = 9 | issue = 3 | pages = 99–106 | date = Jun 2002 | pmid = 12168954 | doi = 10.1093/dnares/9.3.99 }}
| citations =
* {{cite journal | vauthors = Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP | title = The DNA sequence of human chromosome 22 | journal = Nature | volume = 402 | issue = 6761 | pages = 489–95 | date = Dec 1999 | pmid = 10591208 | doi = 10.1038/990031 }}
*{{cite journal | author=Nakajima D, Okazaki N, Yamakawa H, ''et al.'' |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. |journal=DNA Res. |volume=9 |issue= 3 |pages= 99-106 |year= 2003 |pmid= 12168954 |doi= }}
* {{cite journal | vauthors = Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O | title = 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 | journal = DNA Research | volume = 7 | issue = 1 | pages = 65–73 | date = Feb 2000 | pmid = 10718198 | doi = 10.1093/dnares/7.1.65 }}
*{{cite journal | author=Dunham I, Shimizu N, Roe BA, ''et al.'' |title=The DNA sequence of human chromosome 22. |journal=Nature |volume=402 |issue= 6761 |pages= 489-95 |year= 1999 |pmid= 10591208 |doi= 10.1038/990031 }}
* {{cite journal | vauthors = Mercher T, Coniat MB, Monni R, Mauchauffe M, Nguyen Khac F, Gressin L, Mugneret F, Leblanc T, Dastugue N, Berger R, Bernard OA | title = Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 98 | issue = 10 | pages = 5776–9 | date = May 2001 | pmid = 11344311 | pmc = 33289 | doi = 10.1073/pnas.101001498 }}
*{{cite journal | author=Nagase T, Kikuno R, Ishikawa KI, ''et al.'' |title=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. |journal=DNA Res. |volume=7 |issue= 1 |pages= 65-73 |year= 2000 |pmid= 10718198 |doi= }}
* {{cite journal | vauthors = Wang D, Chang PS, Wang Z, Sutherland L, Richardson JA, Small E, Krieg PA, Olson EN | title = Activation of cardiac gene expression by myocardin, a transcriptional cofactor for serum response factor | journal = Cell | volume = 105 | issue = 7 | pages = 851–62 | date = Jun 2001 | pmid = 11439182 | doi = 10.1016/S0092-8674(01)00404-4 }}
*{{cite journal | author=Mercher T, Coniat MB, Monni R, ''et al.'' |title=Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 10 |pages= 5776-9 |year= 2001 |pmid= 11344311 |doi= 10.1073/pnas.101001498 }}
* {{cite journal | vauthors = Wang DZ, Li S, Hockemeyer D, Sutherland L, Wang Z, Schratt G, Richardson JA, Nordheim A, Olson EN | title = Potentiation of serum response factor activity by a family of myocardin-related transcription factors | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 99 | issue = 23 | pages = 14855–60 | date = Nov 2002 | pmid = 12397177 | pmc = 137508 | doi = 10.1073/pnas.222561499 }}
*{{cite journal | author=Ma Z, Morris SW, Valentine V, ''et al.'' |title=Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. |journal=Nat. Genet. |volume=28 |issue= 3 |pages= 220-1 |year= 2001 |pmid= 11431691 |doi= 10.1038/90054 }}
* {{cite journal | vauthors = Cen B, Selvaraj A, Burgess RC, Hitzler JK, Ma Z, Morris SW, Prywes R | title = Megakaryoblastic leukemia 1, a potent transcriptional coactivator for serum response factor (SRF), is required for serum induction of SRF target genes | journal = Molecular and Cellular Biology | volume = 23 | issue = 18 | pages = 6597–608 | date = Sep 2003 | pmid = 12944485 | pmc = 193697 | doi = 10.1128/MCB.23.18.6597-6608.2003 }}
*{{cite journal  | author=Wang D, Chang PS, Wang Z, ''et al.'' |title=Activation of cardiac gene expression by myocardin, a transcriptional cofactor for serum response factor. |journal=Cell |volume=105 |issue= 7 |pages= 851-62 |year= 2001 |pmid= 11439182 |doi= }}
* {{cite journal | vauthors = Selvaraj A, Prywes R | title = Megakaryoblastic leukemia-1/2, a transcriptional co-activator of serum response factor, is required for skeletal myogenic differentiation | journal = The Journal of Biological Chemistry | volume = 278 | issue = 43 | pages = 41977–87 | date = Oct 2003 | pmid = 14565952 | doi = 10.1074/jbc.M305679200 }}
*{{cite journal  | author=Sasazuki T, Sawada T, Sakon S, ''et al.'' |title=Identification of a novel transcriptional activator, BSAC, by a functional cloning to inhibit tumor necrosis factor-induced cell death. |journal=J. Biol. Chem. |volume=277 |issue= 32 |pages= 28853-60 |year= 2002 |pmid= 12019265 |doi= 10.1074/jbc.M203190200 }}
* {{cite journal | vauthors = Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP | title = Large-scale characterization of HeLa cell nuclear phosphoproteins | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 101 | issue = 33 | pages = 12130–5 | date = Aug 2004 | pmid = 15302935 | pmc = 514446 | doi = 10.1073/pnas.0404720101 }}
*{{cite journal | author=Wang DZ, Li S, Hockemeyer D, ''et al.'' |title=Potentiation of serum response factor activity by a family of myocardin-related transcription factors. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 23 |pages= 14855-60 |year= 2003 |pmid= 12397177 |doi= 10.1073/pnas.222561499 }}
* {{cite journal | vauthors = Selvaraj A, Prywes R | title = Expression profiling of serum inducible genes identifies a subset of SRF target genes that are MKL dependent | journal = BMC Molecular Biology | volume = 5 | pages = 13 | date = Aug 2004 | pmid = 15329155 | pmc = 516031 | doi = 10.1186/1471-2199-5-13 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM, Dunham I | title = A genome annotation-driven approach to cloning the human ORFeome | journal = Genome Biology | volume = 5 | issue = 10 | pages = R84 | year = 2005 | pmid = 15461802 | pmc = 545604 | doi = 10.1186/gb-2004-5-10-r84 }}
*{{cite journal | author=Cen B, Selvaraj A, Burgess RC, ''et al.'' |title=Megakaryoblastic leukemia 1, a potent transcriptional coactivator for serum response factor (SRF), is required for serum induction of SRF target genes. |journal=Mol. Cell. Biol. |volume=23 |issue= 18 |pages= 6597-608 |year= 2003 |pmid= 12944485 |doi= }}
* {{cite journal | vauthors = Hsiao HH, Yang MY, Liu YC, Hsiao HP, Tseng SB, Chao MC, Liu TC, Lin SF | title = RBM15-MKL1 (OTT-MAL) fusion transcript in an adult acute myeloid leukemia patient | journal = American Journal of Hematology | volume = 79 | issue = 1 | pages = 43–5 | date = May 2005 | pmid = 15849773 | doi = 10.1002/ajh.20298 }}
*{{cite journal | author=Selvaraj A, Prywes R |title=Megakaryoblastic leukemia-1/2, a transcriptional co-activator of serum response factor, is required for skeletal myogenic differentiation. |journal=J. Biol. Chem. |volume=278 |issue= 43 |pages= 41977-87 |year= 2004 |pmid= 14565952 |doi= 10.1074/jbc.M305679200 }}
* {{cite journal | vauthors = Nakagawa K, Kuzumaki N | title = Transcriptional activity of megakaryoblastic leukemia 1 (MKL1) is repressed by SUMO modification | journal = Genes to Cells | volume = 10 | issue = 8 | pages = 835–50 | date = Aug 2005 | pmid = 16098147 | doi = 10.1111/j.1365-2443.2005.00880.x }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Du KL, Chen M, Li J, ''et al.'' |title=Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells. |journal=J. Biol. Chem. |volume=279 |issue= 17 |pages= 17578-86 |year= 2004 |pmid= 14970199 |doi= 10.1074/jbc.M400961200 }}
*{{cite journal  | author=Beausoleil SA, Jedrychowski M, Schwartz D, ''et al.'' |title=Large-scale characterization of HeLa cell nuclear phosphoproteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130-5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101 }}
*{{cite journal | author=Selvaraj A, Prywes R |title=Expression profiling of serum inducible genes identifies a subset of SRF target genes that are MKL dependent. |journal=BMC Mol. Biol. |volume=5 |issue=  |pages= 13 |year= 2005 |pmid= 15329155 |doi= 10.1186/1471-2199-5-13 }}
*{{cite journal | author=Collins JE, Wright CL, Edwards CA, ''et al.'' |title=A genome annotation-driven approach to cloning the human ORFeome. |journal=Genome Biol. |volume=5 |issue= 10 |pages= R84 |year= 2005 |pmid= 15461802 |doi= 10.1186/gb-2004-5-10-r84 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Hsiao HH, Yang MY, Liu YC, ''et al.'' |title=RBM15-MKL1 (OTT-MAL) fusion transcript in an adult acute myeloid leukemia patient. |journal=Am. J. Hematol. |volume=79 |issue= 1 |pages= 43-5 |year= 2005 |pmid= 15849773 |doi= 10.1002/ajh.20298 }}
*{{cite journal | author=Nakagawa K, Kuzumaki N |title=Transcriptional activity of megakaryoblastic leukemia 1 (MKL1) is repressed by SUMO modification. |journal=Genes Cells |volume=10 |issue= 8 |pages= 835-50 |year= 2005 |pmid= 16098147 |doi= 10.1111/j.1365-2443.2005.00880.x }}
}}
{{refend}}
{{refend}}


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{{gene-22-stub}}
{{WikiDoc Sources}}

Revision as of 06:36, 4 September 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

Function

l 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

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

  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. ↑ 4.0 4.1 "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


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