Protein: P04156

UniprotKB AC UniprotKB ID Gene name Full name Species Curated set
P04156 (Uniprot) PRIO_HUMAN PRNP Major prion protein human No
Uniprot: Its primary physiological function is unclear. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May promote myelin homeostasis through acting as a agonist for ADGRG6 receptor. May play a role in iron uptake and iron homeostasis. Soluble oligomers are toxic to cultured neuroblastoma cells and induce apoptosis (in vitro) (By similarity). Association with GPC1 (via its heparan sulfate chains) targets PRNP to lipid rafts. Also provides Cu(2+) or ZN(2+) for the ascorbate-mediated GPC1 deaminase degradation of its heparan sulfate side chains (By similarity). more..
MoonDB Dissimilar Functions
GO ID 1 Function 1 Module ID 1 GO ID 2 Function 2 Module ID 2 Association Probability (PrOnto) Interaction Probability (PrOnto)
GO:0036211 protein modification process 106 GO:0016070 RNA metabolic process 75 5.81e-04 8.44e-05
GO:0019538 protein metabolic process 665 GO:0016070 RNA metabolic process 75 5.15e-08 2.82e-13
Biological Processes
Module ID (MoonGO) GO ID (BP) GO Name
75 GO:0016071 mRNA metabolic process
75 GO:0051252 regulation of RNA metabolic process
75 GO:0010468 regulation of gene expression
75 GO:0006351 transcription, DNA-templated
106 GO:0006464 cellular protein modification process
106 GO:0031325 positive regulation of cellular metabolic process
106 GO:0010604 positive regulation of macromolecule metabolic process
106 GO:0051173 positive regulation of nitrogen compound metabolic process
106 GO:0009966 regulation of signal transduction
106 GO:0006355 regulation of transcription, DNA-templated
127 GO:0016070 RNA metabolic process
127 GO:0010467 gene expression
313 GO:0060255 regulation of macromolecule metabolic process
314 GO:0010467 gene expression
314 GO:0060255 regulation of macromolecule metabolic process
410 GO:0010467 gene expression
410 GO:0007165 signal transduction
665 GO:0044267 cellular protein metabolic process
785 GO:0016070 RNA metabolic process
785 GO:0006464 cellular protein modification process
785 GO:0010467 gene expression
785 GO:0060255 regulation of macromolecule metabolic process
789 GO:0044271 cellular nitrogen compound biosynthetic process
789 GO:0044267 cellular protein metabolic process
789 GO:0071310 cellular response to organic substance
789 GO:0031325 positive regulation of cellular metabolic process
789 GO:0010604 positive regulation of macromolecule metabolic process
789 GO:0051173 positive regulation of nitrogen compound metabolic process
789 GO:2000112 regulation of cellular macromolecule biosynthetic process
789 GO:0010468 regulation of gene expression
789 GO:0007165 signal transduction
Cellular Components
Module ID (MoonGO) GO ID (CC) GO Name
65 GO:0012505 endomembrane system
65 GO:0016021 integral component of membrane
75 GO:0005829 cytosol
75 GO:0005654 nucleoplasm
105 GO:0005634 nucleus
106 GO:0005829 cytosol
106 GO:0005654 nucleoplasm
127 GO:0005634 nucleus
260 GO:0005829 cytosol
313 GO:0005634 nucleus
314 GO:0005829 cytosol
314 GO:0005634 nucleus
410 GO:0005634 nucleus
665 GO:0043232 intracellular non-membrane-bounded organelle
665 GO:0005634 nucleus
785 GO:0005634 nucleus
789 GO:0005654 nucleoplasm
GO ID (BP) GO Name Evidence Code (GO EC)
GO:0001933 negative regulation of protein phosphorylation ISS
GO:0006878 cellular copper ion homeostasis NAS
GO:0006979 response to oxidative stress ISS
GO:0007050 cell cycle arrest IEA
GO:0007611 learning or memory ISS
GO:0007616 long-term memory TAS
GO:0008152 metabolic process TAS
GO:0010955 negative regulation of protein processing TAS
GO:0031648 protein destabilization IMP
GO:0032147 activation of protein kinase activity IEA
GO:0032689 negative regulation of interferon-gamma production ISS
GO:0032700 negative regulation of interleukin-17 production ISS
GO:0032703 negative regulation of interleukin-2 production ISS
GO:0035584 calcium-mediated signaling using intracellular calcium source IGI
GO:0035690 cellular response to drug IEA
GO:0043066 negative regulation of apoptotic process IEA
GO:0043086 negative regulation of catalytic activity IEA
GO:0043433 negative regulation of DNA binding transcription factor activity ISS
GO:0043525 positive regulation of neuron apoptotic process IMP
GO:0046007 negative regulation of activated T cell proliferation ISS
GO:0046686 response to cadmium ion IEA
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation IDA
GO:0050860 negative regulation of T cell receptor signaling pathway ISS
GO:0051260 protein homooligomerization IMP
GO:0061098 positive regulation of protein tyrosine kinase activity IGI
GO:0070885 negative regulation of calcineurin-NFAT signaling cascade ISS
GO:0071280 cellular response to copper ion IDA
GO:0090314 positive regulation of protein targeting to membrane IEA
GO:0090647 modulation of age-related behavioral decline ISS
GO:1900272 negative regulation of long-term synaptic potentiation IEA
GO:1901379 regulation of potassium ion transmembrane transport IEA
GO:1902430 negative regulation of amyloid-beta formation ISS
GO:1902938 regulation of intracellular calcium activated chloride channel activity IGI
GO:1902951 negative regulation of dendritic spine maintenance IEA
GO:1902992 negative regulation of amyloid precursor protein catabolic process ISS
GO:1903078 positive regulation of protein localization to plasma membrane IEA
GO:1904646 cellular response to amyloid-beta IGI
GO:1905664 regulation of calcium ion import across plasma membrane IEA
GO:1990535 neuron projection maintenance ISS
GO ID (CC) GO Name Evidence Code (GO EC)
GO:0005737 cytoplasm TAS
GO:0005783 endoplasmic reticulum ISS
GO:0005794 Golgi apparatus ISS
GO:0005829 cytosol IDA
GO:0005886 plasma membrane IDA
GO:0009986 cell surface IDA
GO:0014069 postsynaptic density TAS
GO:0016234 inclusion body IMP
GO:0019898 extrinsic component of membrane TAS
GO:0030425 dendrite IDA
GO:0031362 anchored component of external side of plasma membrane NAS
GO:0031965 nuclear membrane IDA
GO:0043231 intracellular membrane-bounded organelle IDA
GO:0045121 membrane raft IMP
GO:0070062 extracellular exosome IDA
GO:0098794 postsynapse TAS
GO:0106003 amyloid-beta complex IDA
GO ID 1 Component 1 GO ID 2 Component 2 Association Probability (PrOnto) Interaction Probability (PrOnto)
GO:0005829 cytosol GO:0009986 cell surface 3.26e-22 6.81e-06
GO:0005886 plasma membrane GO:0043231 intracellular membrane-bounded organelle 0.00e+00 3.79e-47
GO:0009986 cell surface GO:0043231 intracellular membrane-bounded organelle 1.41e-26 4.81e-14
PMID Article Title
1347910 Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.
1363802 Deletion in the prion protein gene in a demented patient.
1363810 Mutant prion proteins in Gerstmann-Straussler-Scheinker disease with neurofibrillary tangles.
1439789 Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
1671440 New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.
1672107 Amyloid protein of Gerstmann-Straussler-Scheinker disease (Indiana kindred) is an 11 kd fragment of prion protein with an N-terminal glycine at codon 58.
1678248 Genomic structure of the human prion protein gene.
1683708 Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.
1975028 Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia.
2564168 Linkage of a prion protein missense variant to Gerstmann-Straussler syndrome.
2783132 Pro-->Leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Straussler syndrome.
3014653 Human prion protein cDNA: molecular cloning, chromosomal mapping, and biological implications.
3755672 Molecular cloning of a human prion protein cDNA.
7485229 SSCP analysis and sequencing of the human prion protein gene (PRNP) detects two different 24 bp deletions in an atypical Alzheimer's disease family.
7699395 A variant of Gerstmann-Straussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study.
7783876 Gerstmann-Straussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.
7902693 A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.
7902972 A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Straussler-Scheinker disease.
7906019 Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.
7913755 Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease.
8105771 Genetic and infectious prion diseases.
8364585 Mutations and polymorphisms in the prion protein gene.
8461023 Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Straussler syndrome.
8797472 Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Straussler-Scheinker disease (PrP-P102L mutation).
8909447 Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.
9266722 Familial spongiform encephalopathy associated with a novel prion protein gene mutation.
9384372 A prion-linked psychiatric disorder.
9482303 Protective prion protein polymorphisms against sporadic Creutzfeldt-Jakob disease.
9786248 Phenotypic variability of Gerstmann-Straussler-Scheinker disease is associated with prion protein heterogeneity.
9792871 A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.
9799790 Complete genomic sequence and analysis of the prion protein gene region from three mammalian species.
10581485 Novel PRNP sequence variant associated with familial encephalopathy.
10618385 NMR solution structure of the human prion protein.
10631141 High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.
10790216 Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.
10900000 NMR structures of three single-residue variants of the human prion protein.
10954699 Solution structure of the E200K variant of human prion protein. Implications for the mechanism of pathogenesis in familial prion diseases.
10987652 Molecular genetics of human prion diseases in Germany.
11524679 Crystal structure of the human prion protein reveals a mechanism for oligomerization.
11709001 A new PRNP mutation (G131V) associated with Gerstmann-Straussler-Scheinker disease.
11780052 The DNA sequence and comparative analysis of human chromosome 20.
11900542 Molecular features of the copper binding sites in the octarepeat domain of the prion protein.
12214108 The Thr183Ala mutation, not the loss of the first glycosylation site, alters the physical properties of the prion protein.
12690204 Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics.
12732622 Prion, amyloid beta-derived Cu(II) ions, or free Zn(II) ions support S-nitroso-dependent autocleavage of glypican-1 heparan sulfate.
14623188 The octapeptide repeats in mammalian prion protein constitute a pH-dependent folding and aggregation site.
15489334 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
16144413 The octarepeat domain of the prion protein binds Cu(II) with three distinct coordination modes at pH 7.4.
17468747 Atomic structures of amyloid cross-beta spines reveal varied steric zippers.
18034490 The prion protein is a combined zinc and copper binding protein: Zn2+ alters the distribution of Cu2+ coordination modes.
19059915 Biosynthesis of prion protein nucleocytoplasmic isoforms by alternative initiation of translation.
19204296 Crystal structure of human prion protein bound to a therapeutic antibody.
19349973 Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.
19381258 Early onset prion disease from octarepeat expansion correlates with copper or zinc binding properties.
19923577 A novel protective prion protein variant that colocalizes with kuru exposure.
19927125 Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.
19936054 Glypican-1 mediates both prion protein lipid raft association and disease isoform formation.
20375014 Prion fibrillization is mediated by a native structural element that comprises helices H2 and H3.
20564047 Copper (II) promotes the formation of soluble neurotoxic PrP oligomers in acidic environment.
21153684 Characterizing the novel protein p33MONOX.
21478263 An overlapping reading frame in the PRNP gene encodes a novel polypeptide distinct from the prion protein.
26061765 A naturally occurring variant of the human prion protein completely prevents prion disease.
OMIM ID Disease Name
123400 Creutzfeldt-Jakob disease
137440 Gerstmann-Straussler disease
245300 Kuru
600072 Fatal familial insomnia
603218 Huntington disease-like 1
Domain Name Domain ID Source
UJHU A24173 PIR
Prion IPR000817 InterPro
Prion/Doppel_prot_b-ribbon_dom IPR022416 InterPro
Prion_N_dom IPR025860 InterPro
Prion/Doppel_b-ribbon_dom_sf IPR036924 InterPro
Prion PF00377 Pfam
Prion_bPrPp PF11587 Pfam
PRION PR00341 PRINTS
PRION_1 PS00291 PROSITE
PRION_2 PS00706 PROSITE
PTHR10502:SF134 PTHR10502:SF134 PANTHER
PRP SM00157 SMART
SSF54098 SSF54098 SUPFAM