PRNP

位於20號人類染色體的基因

PRNP朊蛋白)为人类主要朊毒体蛋白PrP基因编码,也称之为CD230分化簇230)[6][7][8][9]。该蛋白的主要表达于神经系统,但也会表达在人体其他组织[10][11][12]

朊蛋白
已知的结构
PDB直系同源搜索: PDBe RCSB
识别号
别名PRNP;, ASCR, AltPrP, CD230, CJD, GSS, KURU, PRIP, PrP, PrP27-30, PrP33-35C, PrPc, p27-30, prion protein
外部IDOMIM176640 MGI97769 HomoloGene7904 GeneCardsPRNP
相关疾病
传染性海绵状脑病、​克雅二氏病、​致死性家族失眠症、​Gerstmann–Sträussler–Scheinker综合征、​Huntington disease-like 1、​spongiform encephalopathy with neuropsychiatric features、​inherited Creutzfeldt–Jakob disease[1]
基因位置(人类
20号染色体
染色体20号染色体[2]
20号染色体
朊蛋白的基因位置
朊蛋白的基因位置
基因座20p13起始4,686,350 bp[2]
终止4,701,590 bp[2]
RNA表达模式


查阅更多表达数据
直系同源
物种人类小鼠
Entrez
Ensembl
UniProt
mRNA​序列

NM_001278256
​NM_011170

蛋白序列

NP_001265185
​NP_035300

基因位置​(UCSC)Chr 20: 4.69 – 4.7 MbChr 2: 131.75 – 131.78 Mb
PubMed​查找[4][5]
维基数据
查看/编辑人类查看/编辑小鼠

参考文献

  1. ^ 與朊毒體蛋白相關的疾病;在維基數據上查看/編輯參考. 
  2. ^ 2.0 2.1 2.2 GRCh38: Ensembl release 89: ENSG00000171867 - Ensembl, May 2017
  3. ^ 3.0 3.1 3.2 GRCm38: Ensembl release 89: ENSMUSG00000079037 - 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. ^ Kretzschmar, Hans A.; Stowring, Linda E.; Westaway, David; Stubblebine, William H.; Prusiner, Stanley B.; Dearmond, Stephen J. Molecular Cloning of a Human Prion Protein cDNA. DNA. 1986-08, 5 (4) [2022-11-11]. ISSN 0198-0238. PMID 3755672. doi:10.1089/dna.1986.5.315. (原始内容存档于2020-02-23) (英语). 
  7. ^ Sparkes, R S; Simon, M; Cohn, V H; Fournier, R E; Lem, J; Klisak, I; Heinzmann, C; Blatt, C; Lucero, M; Mohandas, T. Assignment of the human and mouse prion protein genes to homologous chromosomes.. Proceedings of the National Academy of Sciences. 1986-10, 83 (19). Bibcode:1986PNAS...83.7358S. ISSN 0027-8424. PMC 386716 . PMID 3094007. doi:10.1073/pnas.83.19.7358 (英语). 
  8. ^ Liao, Yu-Cheng; Lebo, Roger V.; Clawson, Gary A.; Smuckler, Edward A. Human Prion Protein cDNA: Molecular Cloning, Chromosomal Mapping, and Biological Implications. Science. 1986-07-18, 233 (4761) [2022-11-11]. Bibcode:1986Sci...233..364L. ISSN 0036-8075. PMID 3014653. doi:10.1126/science.3014653. (原始内容存档于2022-11-12) (英语). 
  9. ^ Robakis, N. K.; Devine-Gage, E. A.; Jenkins, E. C.; Kascsak, R. J.; Brown, W. T.; Krawczun, M. S.; Silverman, W. P. Localization of a human gene homologous to the PrP gene on the p arm of chromosome 20 and detection of PrP-related antigens in normal human brain. Biochemical and Biophysical Research Communications. 1986-10-30, 140 (2) [2022-11-11]. ISSN 0006-291X. PMID 2877664. doi:10.1016/0006-291x(86)90796-5. (原始内容存档于2022-11-11). 
  10. ^ Prusiner, Stanley B. Neurodegenerative Diseases and Prions. New England Journal of Medicine. 2001-05-17, 344 (20). ISSN 0028-4793. PMID 11357156. doi:10.1056/NEJM200105173442006 (英语). 
  11. ^ Weissmann, Charles. The state of the prion. Nature Reviews Microbiology. 2004-11, 2 (11) [2022-11-11]. ISSN 1740-1526. PMID 15494743. doi:10.1038/nrmicro1025. (原始内容存档于2022-11-11) (英语). 
  12. ^ Zomosa-Signoret, Viviana; Arnaud, Jacques-Damien; Fontes, Pascaline; Alvarez-Martinez, Maria-Terresa; Liautard, Jean-Pierre. Physiological role of the cellular prion protein. Veterinary Research. 2008-07, 39 (4). ISSN 0928-4249. PMID 18073096. doi:10.1051/vetres:2007048.