DMPK基因

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
已知的結構 PDB 直系同源搜索: PDBe RCSB PDBID列表 1WT6、​2VD5
識別號
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
相關疾病
強直性肌肉失養症^[1]
基因位置（人类） 染色体 19號染色體^[2] 基因座 19q13.32 起始 45,769,709 bp^[2] 终止 45,782,552 bp^[2]
基因位置（小鼠） 染色体 小鼠7号染色体^[3] 基因座 7 A3|7 9.46 cM 起始 18,817,774 bp^[3] 终止 18,827,746 bp^[3]
RNA表达模式
查阅更多表达数据
基因本體 分子功能 • 蛋白质丝氨酸/苏氨酸激酶活性 • ATP結合 • myosin phosphatase regulator activity • 蛋白激酶活性 • 血浆蛋白结合 • 激酶活性 • 金屬離子結合 • 核苷酸結合 • 轉移酶活性 • heat shock protein binding 細胞組分 • integral component of membrane • mitochondrial outer membrane • 细胞核 • 肌漿網 • sarcoplasmic reticulum membrane • 细胞质基质 • 膜 • 内质网 • mitochondrial membranes • 细胞膜 • 細胞質 • nuclear outer membrane • endoplasmic reticulum membrane • 線粒體 • integral component of mitochondrial outer membrane • 核膜 生物學過程 • 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
物種	人類	小鼠
Entrez	1760	13400
Ensembl	ENSG00000104936	ENSMUSG00000030409
UniProt	Q09013	P54265
mRNA​序列	NM_001081560 ​NM_001081562 ​NM_001081563 ​NM_001288764 ​NM_001288765 ​NM_001288766 ​NM_004409	NM_001190490 ​NM_001190491 ​NM_032418 ​NM_001374651 ​NM_001379257
蛋白序列	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
基因位置​（UCSC）	Chr 19: 45.77 – 45.78 Mb	Chr 7: 18.82 – 18.83 Mb
PubMed​查找	^[4]	^[5]
維基數據
檢視/編輯人類 檢視/編輯小鼠

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

1. 與DMPK基因相關的疾病；在維基數據上查看/編輯參考. 
2. GRCh38: Ensembl release 89: ENSG00000104936 - Ensembl, May 2017
3. 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. 
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. 
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  .