DMPK基因

肌強直蛋白-蛋白激酶(MT-PK)又叫肌緊張營養不良蛋白激酶(MDPK)或營養不良肌緊張蛋白激酶(DMPK)，在人體是一種由DMPK基因編碼的酶。^[6][7]

DMPK基因
已知的結構 PDB 直系同源搜尋: PDBe RCSB PDBID列表 1WT6、​2VD5
識別號
別名	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（人類） 染色體 19號染色體[2] 基因座 19q13.32 起始 45,769,709 bp[2] 終止 45,782,552 bp[2]
基因位置（小鼠） 染色體 小鼠7號染色體[3] 基因座 7 A3|7 9.46 cM 起始 18,817,774 bp[3] 終止 18,827,746 bp[3]
RNA表達模式
查閱更多表達數據
基因本體 分子功能 • 蛋白質絲氨酸/蘇氨酸激酶活性 • ATP結合 • myosin phosphatase regulator activity • 蛋白激酶活性 • 血漿蛋白結合 • 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 • 細胞核 • 肌漿網 • sarcoplasmic reticulum membrane • 細胞質基質 • 膜 • 內質網 • mitochondrial membranes • 細胞膜 • 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基因的產物是一種與MRCK p21-活化的激酶和Rho激酶家族同源的絲氨酸、蘇氨酸蛋白激酶。^[8]用檢測DMPK特異亞型的抗體獲得的數據表明DMPK大多數豐富的亞型是幾乎僅僅在平滑肌、骨骼肌和心肌表達的80-kDa蛋白。^[9]

參考

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 .