DMPK基因

DMPK基因
已知的结构
PDB	直系同源搜索: PDBe RCSB
PDBID列表
	1WT6、2VD5
识别号
别名	DMPK；, DM, DM1, DM1PK, DMK, MDPK, MT-PK, Dm15, dystrophia myotonica protein kinase, DM1 protein kinase
外部ID	OMIM：605377 MGI：94906 HomoloGene：3247 GeneCards：DMPK
相关疾病
	强直性肌肉失养症
基因位置（人类）
染色体	19号染色体
终止	45,782,552 bp
基因位置（小鼠）
染色体	小鼠7号染色体
终止	18,827,746 bp
RNA表达模式
	; ; ; ;
	查阅更多表达数据
基因本体
分子功能	• 蛋白质丝氨酸/苏氨酸激酶活性; • ATP结合; • myosin phosphatase regulator activity; • 蛋白激酶活性; • 血浆蛋白结合; • 激酶活性; • 金属离子结合; • 核苷酸结合; • 转移酶活性; • heat shock protein binding;
细胞组分	• integral component of membrane; • mitochondrial outer membrane; • 细胞核; • 肌浆网; • sarcoplasmic reticulum membrane; • 细胞质基质; • 膜; • 内质网; • mitochondrial membranes; • 细胞膜; • 细胞质; • nuclear outer membrane; • endoplasmic reticulum membrane; • 线粒体; • integral component of mitochondrial outer membrane; • 核膜;
生物学过程	• regulation of myotube differentiation; • muscle cell apoptotic process; • protein phosphorylation; • peptidyl-serine phosphorylation; • regulation of cardiac conduction; • regulation of sodium ion transport; • regulation of skeletal muscle contraction by calcium ion signaling; • nuclear envelope organization; • regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction; • regulation of synapse structural plasticity; • 磷酸化; • cellular calcium ion homeostasis; • regulation of heart contraction; • regulation of phosphoprotein phosphatase activity; • intracellular signal transduction;
	Sources:Amigo / QuickGO
直系同源
	1760
	13400
	ENSG00000104936
	ENSMUSG00000030409
	Q09013
	P54265
NM_001081560; NM_001081562; NM_001081563; NM_001288764; NM_001288765;
	NM_001288766; NM_004409
	NM_001190490; NM_001190491; NM_032418; NM_001374651; NM_001379257
NP_001075029; NP_001075031; NP_001075032; NP_001275693; NP_001275694;
	NP_001275695; NP_004400; NP_001275693.1; NP_001275694.1; NP_001275695.1
	NP_001177419; NP_001177420; NP_115794; NP_001361580; NP_001366186
	维基数据
查看/编辑人类	查看/编辑小鼠

肌强直蛋白-蛋白激酶(MT-PK)又叫肌紧张营养不良蛋白激酶(MDPK)或营养不良肌紧张蛋白激酶(DMPK)，在人体是一种由DMPK基因编码的酶。^[6]^[7]

dmpk基因的产物是一种与MRCK p21-激活的激酶和Rho激酶家族同源的丝氨酸、苏氨酸蛋白激酶。^[8]用检测DMPK特异亚型的抗体获得的数据表明DMPK大多数丰富的亚型是几乎仅仅在平滑肌、骨骼肌和心肌表达的80-kDa蛋白。^[9]

参考

^ 與DMPK基因相關的疾病；在維基數據上查看/編輯參考.
^ ^2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000104936 - Ensembl, May 2017
^ ^3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000030409 - Ensembl, May 2017
^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barceló J, O'Hoy K. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science. March 1992, 255 (5049): 1253–5. Bibcode:1992Sci...255.1253M. PMID 1546325. doi:10.1126/science.1546325.
^ Fu YH, Pizzuti A, Fenwick RG, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, de Jong P. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. March 1992, 255 (5049): 1256–8. Bibcode:1992Sci...255.1256F. PMID 1546326. doi:10.1126/science.1546326.
^ Amano M, Chihara K, Nakamura N, Kaneko T, Matsuura Y, Kaibuchi K. The COOH terminus of Rho-kinase negatively regulates rho-kinase activity. The Journal of Biological Chemistry. November 1999, 274 (45): 32418–24. PMID 10542285. doi:10.1074/jbc.274.45.32418  .
^ Lam LT, Pham YC, Nguyen TM, Morris GE. Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart. Human Molecular Genetics. September 2000, 9 (14): 2167–73. PMID 10958655. doi:10.1093/hmg/9.14.2167  .

[1] 與DMPK基因相關的疾病；在維基數據上查看/編輯參考.

[refGRCh38Ensembl-2] 2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000104936 - Ensembl, May 2017

[refGRCm38Ensembl-3] 3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000030409 - Ensembl, May 2017

[4] Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1546325-6] Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barceló J, O'Hoy K. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science. March 1992, 255 (5049): 1253–5. Bibcode:1992Sci...255.1253M. PMID 1546325. doi:10.1126/science.1546325.

[pmid1546326-7] Fu YH, Pizzuti A, Fenwick RG, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, de Jong P. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. March 1992, 255 (5049): 1256–8. Bibcode:1992Sci...255.1256F. PMID 1546326. doi:10.1126/science.1546326.

[8] Amano M, Chihara K, Nakamura N, Kaneko T, Matsuura Y, Kaibuchi K. The COOH terminus of Rho-kinase negatively regulates rho-kinase activity. The Journal of Biological Chemistry. November 1999, 274 (45): 32418–24. PMID 10542285. doi:10.1074/jbc.274.45.32418  .

[9] Lam LT, Pham YC, Nguyen TM, Morris GE. Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart. Human Molecular Genetics. September 2000, 9 (14): 2167–73. PMID 10958655. doi:10.1093/hmg/9.14.2167  .

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