MKL1

Megakaryoblastic leukemia (translocation) 1
巨核细胞白血病（易位）1
Megakaryoblastic leukemia (translocation) 1; 巨核细胞白血病（易位）1
	Rendering based on PDB 2KVU.
有效结构
PDB	直系同源检索：PDBe, RCSB
PDB查询代码列表
	2KVU, 2KW9
标识
代号	MKL1; BSAC; MAL; MRTF-A
扩展标识	遗传学：606078 鼠基因：2384495 同源基因：32487 GeneCards: MKL1 Gene
基因本体论描述
分子功能	· transcription regulatory region sequence-specific DNA binding; · sequence-specific DNA binding transcription factor activity; · transcription coactivator activity; · actin binding; · actin monomer binding; · protein binding; · leucine zipper domain binding;
细胞成分	· nucleus; · nucleolus; · cytoplasm;
生物过程	· transcription, DNA-templated; · positive regulation of transcription via serum response element binding; · negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; · positive regulation of transcription from RNA polymerase II promoter; · smooth muscle cell differentiation; · negative regulation of apoptotic signaling pathway;
	Sources: Amigo / QuickGO
RNA表达模式
	更多表达数据
直系同源体
物种	人类
Entrez	57591
Ensembl	ENSG00000196588
UniProt	Q969V6
mRNA序列	NM_001282660
蛋白序列	NP_001269589
基因位置	Chr 22:; 40.81 – 41.03 Mb
PubMed查询	[1]
	查; 论; 编;

MKL/megakaryoblastic leukemia 1（巨核细胞白血病）是一种由人类基因 MKL1 编码的蛋白质。^[1]^[2]^[3]^[4]

此基因编码的蛋白能与转录因子心肌素（英語：myocardin，一种调控平滑肌细胞分化的关键转录因子）相互作用。此蛋白主要存在于细胞核中，帮助信号从细胞质到细胞核的转导。在一个特异的染色体易位中，此基因会与1号染色体上的RNA结合基序蛋白15基因融合，这一易位与急性巨核细胞白血病相关。^[4]

参考文献

^ 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. Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet. Jun 2001, 28 (3): 220–1. PMID 11431691. doi:10.1038/90054.
^ Sasazuki T, Sawada T, Sakon S, Kitamura T, Kishi T, Okazaki T, Katano M, Tanaka M, Watanabe M, Yagita H, Okumura K, Nakano H. Identification of a novel transcriptional activator, BSAC, by a functional cloning to inhibit tumor necrosis factor-induced cell death. J Biol Chem. Aug 2002, 277 (32): 28853–60. PMID 12019265. doi:10.1074/jbc.M203190200.
^ Du KL, Chen M, Li J, Lepore JJ, Mericko P, Parmacek MS. Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells. J Biol Chem. Apr 2004, 279 (17): 17578–86. PMID 14970199. doi:10.1074/jbc.M400961200.
^ ^4.0 ^4.1 Entrez Gene: MKL1 megakaryoblastic leukemia (translocation) 1.

延伸阅读

Nakajima D, Okazaki N, Yamakawa H; et al. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.. DNA Res. 2003, 9 (3): 99–106. PMID 12168954. doi:10.1093/dnares/9.3.99.
Dunham I, Shimizu N, Roe BA; et al. The DNA sequence of human chromosome 22.. Nature. 1999, 402 (6761): 489–95. PMID 10591208. doi:10.1038/990031.
Nagase T, Kikuno R, Ishikawa KI; et al. 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. 2000, 7 (1): 65–73. PMID 10718198. doi:10.1093/dnares/7.1.65.
Mercher T, Coniat MB, Monni R; et al. 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. 2001, 98 (10): 5776–9. PMC 33289 . PMID 11344311. doi:10.1073/pnas.101001498.
Wang D, Chang PS, Wang Z; et al. Activation of cardiac gene expression by myocardin, a transcriptional cofactor for serum response factor.. Cell. 2001, 105 (7): 851–62. PMID 11439182. doi:10.1016/S0092-8674(01)00404-4.
Wang DZ, Li S, Hockemeyer D; et al. Potentiation of serum response factor activity by a family of myocardin-related transcription factors.. Proc. Natl. Acad. Sci. U.S.A. 2003, 99 (23): 14855–60. PMC 137508 . PMID 12397177. doi:10.1073/pnas.222561499.
Strausberg RL, Feingold EA, Grouse LH; et al. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.. Proc. Natl. Acad. Sci. U.S.A. 2003, 99 (26): 16899–903. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
Cen B, Selvaraj A, Burgess RC; et al. Megakaryoblastic leukemia 1, a potent transcriptional coactivator for serum response factor (SRF), is required for serum induction of SRF target genes.. Mol. Cell. Biol. 2003, 23 (18): 6597–608. PMC 193697 . PMID 12944485. doi:10.1128/MCB.23.18.6597-6608.2003.
Selvaraj A, Prywes R. Megakaryoblastic leukemia-1/2, a transcriptional co-activator of serum response factor, is required for skeletal myogenic differentiation.. J. Biol. Chem. 2004, 278 (43): 41977–87. PMID 14565952. doi:10.1074/jbc.M305679200.
Ota T, Suzuki Y, Nishikawa T; et al. Complete sequencing and characterization of 21,243 full-length human cDNAs.. Nat. Genet. 2004, 36 (1): 40–5. PMID 14702039. doi:10.1038/ng1285.
Beausoleil SA, Jedrychowski M, Schwartz D; et al. Large-scale characterization of HeLa cell nuclear phosphoproteins.. Proc. Natl. Acad. Sci. U.S.A. 2004, 101 (33): 12130–5. PMC 514446 . PMID 15302935. doi:10.1073/pnas.0404720101.
Selvaraj A, Prywes R. Expression profiling of serum inducible genes identifies a subset of SRF target genes that are MKL dependent.. BMC Mol. Biol. 2005, 5: 13. PMC 516031 . PMID 15329155. doi:10.1186/1471-2199-5-13.
Collins JE, Wright CL, Edwards CA; et al. A genome annotation-driven approach to cloning the human ORFeome.. Genome Biol. 2005, 5 (10): R84. PMC 545604 . PMID 15461802. doi:10.1186/gb-2004-5-10-r84.
Gerhard DS, Wagner L, Feingold EA; et al. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).. Genome Res. 2004, 14 (10B): 2121–7. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
Hsiao HH, Yang MY, Liu YC; et al. RBM15-MKL1 (OTT-MAL) fusion transcript in an adult acute myeloid leukemia patient.. Am. J. Hematol. 2005, 79 (1): 43–5. PMID 15849773. doi:10.1002/ajh.20298.
Nakagawa K, Kuzumaki N. Transcriptional activity of megakaryoblastic leukemia 1 (MKL1) is repressed by SUMO modification.. Genes Cells. 2005, 10 (8): 835–50. PMID 16098147. doi:10.1111/j.1365-2443.2005.00880.x.

Template:Gene-22-stub

[pmid11431691-1] 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. Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet. Jun 2001, 28 (3): 220–1. PMID 11431691. doi:10.1038/90054.

[pmid12019265-2] Sasazuki T, Sawada T, Sakon S, Kitamura T, Kishi T, Okazaki T, Katano M, Tanaka M, Watanabe M, Yagita H, Okumura K, Nakano H. Identification of a novel transcriptional activator, BSAC, by a functional cloning to inhibit tumor necrosis factor-induced cell death. J Biol Chem. Aug 2002, 277 (32): 28853–60. PMID 12019265. doi:10.1074/jbc.M203190200.

[pmid14970199-3] Du KL, Chen M, Li J, Lepore JJ, Mericko P, Parmacek MS. Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells. J Biol Chem. Apr 2004, 279 (17): 17578–86. PMID 14970199. doi:10.1074/jbc.M400961200.

[entrez-4] 4.0 ^4.1 Entrez Gene: MKL1 megakaryoblastic leukemia (translocation) 1.

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