DMPK基因

位於19號人類染色體的基因

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直系同源搜索: PDBe RCSB
識別號
別名DMPK;, DM, DM1, DM1PK, DMK, MDPK, MT-PK, Dm15, dystrophia myotonica protein kinase, DM1 protein kinase
外部IDOMIM605377 MGI94906 HomoloGene3247 GeneCardsDMPK
相關疾病
強直性肌肉失養症[1]
基因位置(人類
19號染色體
染色體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]
終止45,782,552 bp[2]
RNA表達模式




查閱更多表達數據
直系同源
物種人類小鼠
Entrez
Ensembl
UniProt
mRNA​序列

NM_001190490
​NM_001190491
​NM_032418
​NM_001374651
​NM_001379257

蛋白序列

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

dmpk基因的產物是一種與MRCK p21-激活的激酶和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

編輯
  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 . 
  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 .