MKL1

位於22號人類染色體的基因

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]

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
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
RNA表达模式
更多表达数据
直系同源体
物种 人类 小鼠
Entrez 57591 223701
Ensembl ENSG00000196588 ENSMUSG00000042292
UniProt Q969V6 Q8K4J6
mRNA序列 NM_001282660 NM_001082536
蛋白序列 NP_001269589 NP_001076005
基因位置 Chr 22:
40.81 – 41.03 Mb
Chr 15:
81.01 – 81.19 Mb
PubMed查询 [1] [2]

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

  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. 
  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. 
  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. 
  4. ^ 4.0 4.1 Entrez Gene: MKL1 megakaryoblastic leukemia (translocation) 1. 

延伸阅读

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