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Gene Review

PRNP  -  prion protein

Homo sapiens

Synonyms: ASCR, AltPrP, CD230, CJD, GSS, ...
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Disease relevance of PRNP


Psychiatry related information on PRNP


High impact information on PRNP


Chemical compound and disease context of PRNP


Biological context of PRNP


Anatomical context of PRNP

  • More notably, we found that the PRNP gene coding for the cellular prion protein (PrP(c)), was 17-fold overexpressed in the 1001 cell line as compared with the MCF7 cell line [21].
  • The PRNP M129V (PRNP129) polymorphism was determined using both DNA extracted from formalin fixed and paraffin embedded brain tissue (n=59) and leukocyte extracted DNA (n=67) [22].
  • Analysis of both adult and fetal human tissues confirmed the ubiquitous but variable expression profile of PRNP, with the highest levels observed in the CNS and testis [23].
  • Ablation of the cellular prion protein (PrP(c)) gene (PRNP) enhances neuronal excitability of the hippocampus in vitro and sensitivity to seizure in vivo, indicating that PrP(c) might be related to epilepsy [24].
  • METHODS: The PRNP coding sequence of DNA from peripheral blood cells of 100 consecutive patients with surgically treated MTLE-HS was compared to that from a group of healthy controls adjusted for sex, age, and ethnicity (n = 180) [24].

Associations of PRNP with chemical compounds

  • The human PrP gene (PRNP) has two common alleles that encode either methionine or valine at codon 129 [25].
  • Both apoE epsilon4 and PRNP Val allelic effects were additive [26].
  • In both patients, GSS is caused by a substitution of thymine for cytosine at codon 102 of the prion protein gene (PRNP) [15].
  • Recently, a frequent prion protein gene (PRNP) polymorphism consisting of a methionine (M) for valine (V) substitution at codon 129 has been associated with cognitive impairment in elderly individuals [27].
  • To study their biological function we have substituted all lysine residues of each cluster by alanine and generated the recombinant PrP proteins PrP23-110sLC1 and PrP23-110sLC2 [28].

Physical interactions of PRNP


Enzymatic interactions of PRNP

  • The N-terminal cleavage of PrP in GSS disease occurs at a tryptophan-glycine peptide bond identical to that cleaved by proteinase K in vitro to generate PrP 27-30 from hamster PrPSc at codon 90 [30].

Regulatory relationships of PRNP


Other interactions of PRNP


Analytical, diagnostic and therapeutic context of PRNP

  • METHODS: Following identification of a two-octapeptide repeat insertion in PRNP, we conducted a meta-analysis to investigate the relation of number of PRNP octapeptide repeats with age at disease onset and duration of illness; identifying 55 patients with PRNP octapeptide repeat insertions [39].
  • In the latter group also the PRNP open reading frame and the APOE genotype were analysed and compared to a neurologically unaffected, age and sex matched control group (n=79) [22].
  • The PRNP and PRND expression profiles were evaluated by real-time reverse transcription-quantitative PCR in low- and high-grade astrocytomas, in glioblastoma-derived cell lines and in non-glial tumor specimens [5].
  • However, although our sample size was necessarily small, no association was found between these polymorphisms and vCJD or iatrogenic CJD, in keeping with their having distinct disease mechanisms [19].
  • Western blot analysis confirmed the PrP and Dpl expression, displaying variability in the electrophoretic patterns [5].


  1. Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy. Dagvadorj, A., Petersen, R.B., Lee, H.S., Cervenakova, L., Shatunov, A., Budka, H., Brown, P., Gambetti, P., Goldfarb, L.G. Ann. Neurol. (2002) [Pubmed]
  2. Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia. Li, X., Rowland, L.P., Mitsumoto, H., Przedborski, S., Bird, T.D., Schellenberg, G.D., Peskind, E., Johnson, N., Siddique, T., Mesulam, M.M., Weintraub, S., Mastrianni, J.A. Ann. Neurol. (2005) [Pubmed]
  3. Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation). Barbanti, P., Fabbrini, G., Salvatore, M., Petraroli, R., Cardone, F., Maras, B., Equestre, M., Macchi, G., Lenzi, G.L., Pocchiari, M. Neurology (1996) [Pubmed]
  4. Childhood onset in familial prion disease with a novel mutation in the PRNP gene. Rogaeva, E., Zadikoff, C., Ponesse, J., Schmitt-Ulms, G., Kawarai, T., Sato, C., Salehi-Rad, S., St George-Hyslop, P., Lang, A.E. Arch. Neurol. (2006) [Pubmed]
  5. Differential expression of the prion-like protein doppel gene (PRND) in astrocytomas: a new molecular marker potentially involved in tumor progression. Comincini, S., Facoetti, A., Del Vecchio, I., Peoc'h, K., Laplanche, J.L., Magrassi, L., Ceroni, M., Ferretti, L., Nano, R. Anticancer Res. (2004) [Pubmed]
  6. Prion seeded conversion and amplification assays. Orrú, C.D., Caughey, B. Top. Curr. Chem (2011) [Pubmed]
  7. Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease. Lee, H.S., Sambuughin, N., Cervenakova, L., Chapman, J., Pocchiari, M., Litvak, S., Qi, H.Y., Budka, H., del Ser, T., Furukawa, H., Brown, P., Gajdusek, D.C., Long, J.C., Korczyn, A.D., Goldfarb, L.G. Am. J. Hum. Genet. (1999) [Pubmed]
  8. Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity. Piccardo, P., Dlouhy, S.R., Lievens, P.M., Young, K., Bird, T.D., Nochlin, D., Dickson, D.W., Vinters, H.V., Zimmerman, T.R., Mackenzie, I.R., Kish, S.J., Ang, L.C., De Carli, C., Pocchiari, M., Brown, P., Gibbs, C.J., Gajdusek, D.C., Bugiani, O., Ironside, J., Tagliavini, F., Ghetti, B. J. Neuropathol. Exp. Neurol. (1998) [Pubmed]
  9. SSCP analysis and sequencing of the human prion protein gene (PRNP) detects two different 24 bp deletions in an atypical Alzheimer's disease family. Perry, R.T., Go, R.C., Harrell, L.E., Acton, R.T. Am. J. Med. Genet. (1995) [Pubmed]
  10. Neuropsychological function in patients with Gerstmann-Sträussler-Scheinker disease from the Indiana kindred (F198S). Unverzagt, F.W., Farlow, M.R., Norton, J., Dlouhy, S.R., Young, K., Ghetti, B. Journal of the International Neuropsychological Society : JINS. (1997) [Pubmed]
  11. Does the prion protein gene 129 codon polymorphism influence sleep? Evidence from a fatal familial insomnia kindred. Plazzi, G., Montagna, P., Beelke, M., Nobili, L., De Carli, F., Cortelli, P., Vandi, S., Avoni, P., Tinuper, P., Gambetti, P., Lugaresi, E., Ferrillo, F. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. (2002) [Pubmed]
  12. Soluble dimeric prion protein binds PrP(Sc) in vivo and antagonizes prion disease. Meier, P., Genoud, N., Prinz, M., Maissen, M., Rülicke, T., Zurbriggen, A., Raeber, A.J., Aguzzi, A. Cell (2003) [Pubmed]
  13. Amyloid fibrils in Gerstmann-Sträussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele. Tagliavini, F., Prelli, F., Porro, M., Rossi, G., Giaccone, G., Farlow, M.R., Dlouhy, S.R., Ghetti, B., Bugiani, O., Frangione, B. Cell (1994) [Pubmed]
  14. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. Medori, R., Tritschler, H.J., LeBlanc, A., Villare, F., Manetto, V., Chen, H.Y., Xue, R., Leal, S., Montagna, P., Cortelli, P. N. Engl. J. Med. (1992) [Pubmed]
  15. Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients. Young, K., Jones, C.K., Piccardo, P., Lazzarini, A., Golbe, L.I., Zimmerman, T.R., Dickson, D.W., McLachlan, D.C., St George-Hyslop, P., Lennox, A. Neurology (1995) [Pubmed]
  16. High frequency of mutations in four different disease genes in early-onset dementia. Finckh, U., Müller-Thomsen, T., Mann, U., Eggers, C., Marksteiner, J., Meins, W., Binetti, G., Alberici, A., Sonderegger, P., Hock, C., Nitsch, R.M., Gal, A. Ann. N. Y. Acad. Sci. (2000) [Pubmed]
  17. Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome. Hsiao, K., Baker, H.F., Crow, T.J., Poulter, M., Owen, F., Terwilliger, J.D., Westaway, D., Ott, J., Prusiner, S.B. Nature (1989) [Pubmed]
  18. Truncated forms of the human prion protein in normal brain and in prion diseases. Chen, S.G., Teplow, D.B., Parchi, P., Teller, J.K., Gambetti, P., Autilio-Gambetti, L. J. Biol. Chem. (1995) [Pubmed]
  19. Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1. Mead, S., Mahal, S.P., Beck, J., Campbell, T., Farrall, M., Fisher, E., Collinge, J. Am. J. Hum. Genet. (2001) [Pubmed]
  20. Huntington disease phenocopy is a familial prion disease. Moore, R.C., Xiang, F., Monaghan, J., Han, D., Zhang, Z., Edström, L., Anvret, M., Prusiner, S.B. Am. J. Hum. Genet. (2001) [Pubmed]
  21. Prion protein prevents human breast carcinoma cell line from tumor necrosis factor alpha-induced cell death. Diarra-Mehrpour, M., Arrabal, S., Jalil, A., Pinson, X., Gaudin, C., Piétu, G., Pitaval, A., Ripoche, H., Eloit, M., Dormont, D., Chouaib, S. Cancer Res. (2004) [Pubmed]
  22. Influence of the prion protein and the apolipoprotein E genotype on the Creutzfeldt-Jakob Disease phenotype. Van Everbroeck, B., Croes, E.A., Pals, P., Dermaut, B., Jansen, G., van Duijn, C.M., Cruts, M., Van Broeckhoven, C., Martin, J.J., Cras, P. Neurosci. Lett. (2001) [Pubmed]
  23. Genomic characterization of the human prion protein (PrP) gene locus. Makrinou, E., Collinge, J., Antoniou, M. Mamm. Genome (2002) [Pubmed]
  24. Surgical outcome in mesial temporal sclerosis correlates with prion protein gene variant. Walz, R., Castro, R.M., Velasco, T.R., Alexandre, V., Lopes, M.H., Leite, J.P., Santos, A.C., Assirati, J.A., Wichert-Ana, L., Terra-Bustamante, V.C., Bianchin, M.M., Maciag, P.C., Ribeiro, K.B., Guarnieri, R., Araújo, D., Cabalero, O., Moura, R., Salim, A.C., Kindlmann, K., Landemberger, M.C., Marques, W., Fernandes, R.M., Serafini, L.N., Machado, H.R., Carlotti, C.G., Brentani, R.R., Sakamoto, A.C., Martins, V.R. Neurology (2003) [Pubmed]
  25. Methionine 129 variant of human prion protein oligomerizes more rapidly than the valine 129 variant: implications for disease susceptibility to Creutzfeldt-Jakob disease. Tahiri-Alaoui, A., Gill, A.C., Disterer, P., James, W. J. Biol. Chem. (2004) [Pubmed]
  26. Polymorphism of the prion protein is associated with cognitive impairment in the elderly: the EVA study. Berr, C., Richard, F., Dufouil, C., Amant, C., Alperovitch, A., Amouyel, P. Neurology (1998) [Pubmed]
  27. The 129 codon polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects. Del Bo, R., Comi, G.P., Giorda, R., Crimi, M., Locatelli, F., Martinelli-Boneschi, F., Pozzoli, U., Castelli, E., Bresolin, N., Scarlato, G. J. Neurol. (2003) [Pubmed]
  28. Both lysine-clusters of the NH2-terminal prion-protein fragment PrP23-110 are essential for t-PA mediated plasminogen activation. Epple, G., Langfeld, K., Baier, M., Holzhütter, H.G., Schleuning, W.D., Köttgen, E., Gessner, R., Praus, M. Thromb. Haemost. (2004) [Pubmed]
  29. Recombinant Neural Protein PrP Can Bind with Both Recombinant and Native Apolipoprotein E In Vitro. Gao, C., Lei, Y.J., Han, J., Shi, Q., Chen, L., Guo, Y., Gao, Y.J., Chen, J.M., Jiang, H.Y., Zhou, W., Dong, X.P. Acta Biochim. Biophys. Sin. (Shanghai) (2006) [Pubmed]
  30. Amyloid protein of Gerstmann-Sträussler-Scheinker disease (Indiana kindred) is an 11 kd fragment of prion protein with an N-terminal glycine at codon 58. Tagliavini, F., Prelli, F., Ghiso, J., Bugiani, O., Serban, D., Prusiner, S.B., Farlow, M.R., Ghetti, B., Frangione, B. EMBO J. (1991) [Pubmed]
  31. Coexistence of Alzheimer-type neuropathology in Creutzfeldt-Jakob disease. Hainfellner, J.A., Wanschitz, J., Jellinger, K., Liberski, P.P., Gullotta, F., Budka, H. Acta Neuropathol. (1998) [Pubmed]
  32. Acetylcholinesterase triggers the aggregation of PrP 106-126. Pera, M., Román, S., Ratia, M., Camps, P., Muñoz-Torrero, D., Colombo, L., Manzoni, C., Salmona, M., Badia, A., Clos, M.V. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
  33. Cellular prion protein promotes invasion and metastasis of gastric cancer. Pan, Y., Zhao, L., Liang, J., Liu, J., Shi, Y., Liu, N., Zhang, G., Jin, H., Gao, J., Xie, H., Wang, J., Liu, Z., Fan, D. FASEB J. (2006) [Pubmed]
  34. Regulation of prion gene expression by transcription factors SP1 and metal transcription factor-1. Bellingham, S.A., Coleman, L.A., Masters, C.L., Camakaris, J., Hill, A.F. J. Biol. Chem. (2009) [Pubmed]
  35. Polymorphism at codon 129 of the prion protein gene is not associated with sporadic AD. Combarros, O., Sánchez-Guerra, M., Llorca, J., Alvarez-Arcaya, A., Berciano, J., Peña, N., Fernández-Viadero, C. Neurology (2000) [Pubmed]
  36. Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease. Croes, E.A., Alizadeh, B.Z., Bertoli-Avella, A.M., Rademaker, T., Vergeer-Drop, J., Dermaut, B., Houwing-Duistermaat, J.J., Wientjens, D.P., Hofman, A., Van Broeckhoven, C., van Duijn, C.M. Eur. J. Hum. Genet. (2004) [Pubmed]
  37. Numerous polymorphic microsatellites in the human prion gene complex (including PRNP, PRND and PRNT). Preuss, S., Peischl, T., Melchinger, E., Geldermann, H. Gene (2004) [Pubmed]
  38. Cloning of the bovine prion-like Shadoo (SPRN) gene by comparative analysis of the predicted genomic locus. Uboldi, C., Paulis, M., Guidi, E., Bertoni, A., Meo, G.P., Perucatti, A., Iannuzzi, L., Raimondi, E., Brunner, R.M., Eggen, A., Ferretti, L. Mamm. Genome (2006) [Pubmed]
  39. Octapeptide repeat insertions in the prion protein gene and early onset dementia. Croes, E.A., Theuns, J., Houwing-Duistermaat, J.J., Dermaut, B., Sleegers, K., Roks, G., Van den Broeck, M., van Harten, B., van Swieten, J.C., Cruts, M., Van Broeckhoven, C., van Duijn, C.M. J. Neurol. Neurosurg. Psychiatr. (2004) [Pubmed]
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