DMPK基因

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IDOMIM：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）
19號染色體
染色体19號染色體[2]
19號染色體
DMPK基因的基因位置
DMPK基因的基因位置
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）
小鼠7号染色体
染色体小鼠7号染色体[3]
小鼠7号染色体
DMPK基因的基因位置
DMPK基因的基因位置
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 MbChr 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

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

  1. ^ 與DMPK基因相關的疾病；在維基數據上查看/編輯參考. 
  2. ^ 2.0 2.1 2.2 GRCh38: Ensembl release 89: ENSG00000104936 - Ensembl, May 2017
  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. 
  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 可免费查阅. 
  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 可免费查阅.