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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRNP Gene

protein-coding   GIFtS: 66
GCID: GC20P004615

prion protein

(Previous name: prion protein (p27-30) )
(Previous symbols: PRIP, GSS, CJD)
 Explore 92 diseases affiliated with
PRNP via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PRNP    

Aliases
for PRNP gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Prion Protein1 2     PrP27-302 3
PRIP1 2 3 5     PrP33-35C2 3
AltPrP1 2     CD230 Antigen2 3
CD2301 2     Prion Protein (P27-30)1
CJD1 2     KURU2
GSS1 2     PrPc2
PRP1 3     Major Prion Protein2
ASCR2 3     P27-301
PrP2 3     Prion-Related Protein2

External Ids:    HGNC: 94491   Entrez Gene: 56212   Ensembl: ENSG000001718677   OMIM: 1766405   UniProtKB: P041563   

Export aliases for PRNP gene to outside databases

Previous GC identifers: GC20P004655 GC20P004662


Summaries
for PRNP gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PRNP:
The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to
aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide
repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically
and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere
in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler
disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that
encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript
variants. (provided by RefSeq, Oct 2012)

UniProtKB/Swiss-Prot: PRIO_HUMAN, P04156
Function: May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath
maintenance. May play a role in iron uptake and iron homeostasis. Soluble oligomers are toxic to cultured
neuroblastoma cells and induce apoptosis (in vitro). 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)

Gene Wiki entry for PRNP


Genomic Views
for PRNP gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRNP gene promoter:
         p53   AP-1   ATF-2   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for PRNP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRNP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

PRNP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRNP gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P004615:  view genomic region     (about GC identifiers)

Start:
 4,666,797 bp from pter      End:
 4,682,236 bp from pter
Size:
 15,440 bases      Orientation:
 plus strand

Proteins
for PRNP gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PRIO_HUMAN, P04156 (See protein sequence)
Recommended Name: Major prion protein precursor  
Size: 253 amino acids; 27661 Da
Subunit: Monomer and homodimer. Has a tendency to aggregate into amyloid fibrils containing a cross-beta spine, formed
by a steric zipper of superposed beta-strands. Soluble oligomers may represent an intermediate stage on the path to
fibril formation. Copper binding may promote oligomerization. Interacts with GRB2, APP, ERI3/PRNPIP and SYN1.
Mislocalized cytosolically exposed PrP interacts with MGRN1; this interaction alters MGRN1 subcellular location and
causes lysosomal enlargement (By similarity). Interacts with KIAA1191
Subcellular location: Cell membrane; Lipid-anchor, GPI-anchor. Golgi apparatus. Note=Targeted to lipid rafts via
association with the heparan sulfate chains of GPC1. Colocates, in the presence of CU(2+), to vesicles in para- and
perinuclear regions, where both proteins undergo internalization. Heparin displaces PRNP from lipid rafts and promotes
endocytosis
Subcellular location: Isoform 2: Cytoplasm. Nucleus. Note=Accumulates outside the secretory route in the cytoplasm,
from where it relocates to the nucleus
Miscellaneous: This protein is produced by a bicistronic gene which also produces the The alternative prion
protein/AltPrP from an overlapping reading frame
Miscellaneous: The alternative prion protein/AltPrP (AC F7VJQ1) and PRNP have no apparent direct functional relation
since a mutation that removes the start codon of the AltPrP has no apparent effect on the biology of PRNP. In mouse
and hamster, the alternative initiation AUG codon is absent and is replaced by a GUG codon
6/45 PDB 3D structures from and Proteopedia for PRNP (see all 45):
1E1G (3D)        1E1J (3D)        1E1P (3D)        1E1S (3D)        1E1U (3D)        1E1W (3D)    
Secondary accessions: O60489 P78446 Q15216 Q15221 Q27H91 Q5QPB4 Q8TBG0 Q96E70 Q9UP19
Alternative initiation: 2 isoforms:  P04156-1   P04156-2   

Explore the universe of human proteins at neXtProt for PRNP: NX_P04156

Post-translational modifications:

  • The glycosylation pattern (the amount of mono-, di- and non-glycosylated forms or glycoforms) seems to differ in normal
    • and CJD prion1
  • Isoform 2 is sumoylated with SUMO1 (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P04156

    • PRNP Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (6 alternative transcripts): 
    NP_000302.1  NP_001073590.1  NP_001073591.1  NP_001073592.1  NP_001258490.1  NP_898902.1  

    ENSEMBL proteins: 
     ENSP00000368752   ENSP00000399376   ENSP00000411599   ENSP00000415284  
    Reactome Protein details: P04156
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate (see all 6): PRNP
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    Novus Biologicals PRNP Proteins
    Novus Biologicals PRNP Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PRNP

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm TAS16004966
    GO:0005783endoplasmic reticulum ISS--


    PRNP for ontologies           About GeneDecksing



    PRNP Antibody Products: 
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    ThermoFisher Antibody for PRNP

    Assay Products for PRNP: 
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    Uscn ELISAs and CLIAs for PRNP

    Protein Domains /
    Families
    for PRNP gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PRNP for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR025860 Prion_N_dom
     IPR022416 Prion/Doppel_prot_b-ribbon_dom
     IPR000817 Prion

    Graphical View of Domain Structure for InterPro Entry P04156

    ProtoNet protein and cluster: P04156

    1 Blocks protein family: IPB000817 Prion protein

    UniProtKB/Swiss-Prot: PRIO_HUMAN, P04156
    Domain: The normal, monomeric form, PRPN(C), has a mainly alpha-helical structure. Misfolding of this form produces a
    disease-associated, protease-resistant form, PRPN (Sc), accompanied by a large increase of the beta-sheet content and
    formation of amyloid fibrils. These fibrils consist of a cross-beta spine, formed by a steric zipper of superposed
    beta-strands. Disease mutations may favor intermolecular contacts via short beta strands, and may thereby trigger
    oligomerization. In addition, the heparan-sulfate proteoglycan, GPC1, promotes the association of PRPN (C) to lipid
    rafts and appears to facilitate the conversion to PRPN (Sc)
    Domain: Contains an N-terminal region composed of octamer repeats. At low copper concentrations, the sidechains of His
    residues from three or four repeats contribute to the binding of a single copper ion. Alternatively, a copper ion can
    be bound by interaction with the sidechain and backbone amide nitrogen of a single His residue. The observed copper
    binding stoichiometry suggests that two repeat regions cooperate to stabilize the binding of a single copper ion. At
    higher copper concentrations, each octamer can bind one copper ion by interactions with the His sidechain and Gly
    backbone atoms. A mixture of binding types may occur, especially in the case of octamer repeat expansion. Copper
    binding may stabilize the conformation of this region and may promote oligomerization
    Similarity: Belongs to the prion family


    Function
    for PRNP gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: PRIO_HUMAN, P04156
    Function: May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath
    maintenance. May play a role in iron uptake and iron homeostasis. Soluble oligomers are toxic to cultured
    neuroblastoma cells and induce apoptosis (in vitro). 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)

         Genatlas biochemistry entry for PRNP:
    prion protein (p27-30)

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 5): PRNP
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PRNP
    8/37 QIAGEN miScript miRNA Assays for microRNAs that regulate PRNP (see all 37):
    hsa-miR-142-5p hsa-miR-548j hsa-miR-607 hsa-miR-548k hsa-miR-301a hsa-miR-219-5p hsa-miR-548l hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmid: PRNP 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PRNP (see all 7)
    OriGene shRNA RFP: PRNP
    OriGene siRNA: PRNP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PRNP

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for PRNP

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PRNP (see all 7)
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005507copper ion binding TAS16294306
    GO:0005515protein binding IPI18482256
    GO:0008017microtubule binding IDA16004966
    GO:0015631tubulin binding IDA16004966
    GO:0042802identical protein binding IPI16286452


    PRNP for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for PRNP: Prnptm2Tuzi Prnptm1Cwe Prnptm1Tuzi Prnptm2Rcm Prnp/PrndPrnp/tm1Dwm Prnp/PrndPrnp/tm1Aag
                                                   Prnptm1Miy Prnptm2.1Cwe Prnptm2Edin Prnptm1Ito
         15 MGI mutant phenotypes (inferred from 27 alleles) (MGI details for Prnp):
     behavior/neurological  cellular  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  limbs/digits/tail  mortality/aging  muscle  nervous system 
     no phenotypic analysis  normal  other  reproductive system  skeleton 

    PRNP for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PRNP gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1NCAM signaling for neurite out-growth
    		NCAM signaling for neurite out-growth1.00
    		NCAM1 interactions0.62
    2Axon guidance
    		Axon guidance1.00
    		Developmental Biology0.69
    3Glypican 1 network
    		Glypican 1 network1.00
    4Prion diseases
    		Prion diseases1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for PRNP 
        Glypican 1 network

    4        Reactome Pathways for PRNP
        Developmental Biology
    NCAM1 interactions
    NCAM signaling for neurite out-growth
    Axon guidance


    1         Kegg Pathway  (Kegg details for PRNP):
        Prion diseases


    PRNP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRNP

    5/97 Interacting proteins for PRNP (P041561, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 97)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAG6P463792, 3MINT-63361 I2D: score=5 
    PSMA3P257882, 3MINT-2862069 I2D: score=3 
    FAM64AQ9BSJ61, 3EBI-977302,EBI-2568609 I2D: score=1 
    HOXA1P496391, 3EBI-977302,EBI-740785 I2D: score=1 
    MPGP293721, 3EBI-977302,EBI-1043398 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001933negative regulation of protein phosphorylation ISS--
    GO:0006878cellular copper ion homeostasis NAS16004966
    GO:0006979response to oxidative stress ISS--
    GO:0007050cell cycle arrest IEA--
    GO:0007411axon guidance TAS--


    PRNP for ontologies           About GeneDecksing



    Drugs & Compounds
    for PRNP gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PRNP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for PRNP available from Tocris Bioscience    About this table
    CompoundAction CAS #
    TCS PrP Inhibitor 13Antiprion agent; potently inhibits PrP-res accumulation[34320-83-7]
    Prion Protein 106-126 (human)Prion protein fragment[148439-49-0]

    1 DrugBank Compound for PRNP    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Tetracycline-- 60-54-8targetinhibitor11752352 18365024

    10/58 Novoseek chemical compound relationships for PRNP gene (see all 58)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    methionine 75.9 149 19416900 (2), 17709374 (2), 15542057 (2), 8618678 (2) (see all 93)
    valine 74.9 91 9748018 (3), 17709374 (2), 8461023 (2), 16606639 (2) (see all 55)
    copper 48.2 103 11677424 (4), 18280261 (3), 10708581 (3), 11900542 (3) (see all 39)
    clds 45.8 4 16953297 (2), 11781132 (2)
    guanidine thiocyanate 44.4 1 12817879 (1)
    quinacrine 34.2 1 12857915 (1)
    guanidine hydrochloride 29.8 12 12161431 (4), 7761460 (1), 16219367 (1), 10529232 (1)
    asparagine 21.5 8 9521257 (1), 7767490 (1), 19269662 (1), 1684756 (1) (see all 6)
    proline 20.2 7 11566872 (1), 18955686 (1), 20154442 (1), 8461023 (1) (see all 6)
    polysaccharide 20.2 18 8530433 (2), 7678300 (1), 19226372 (1), 17029785 (1) (see all 10)

    Search CenterWatch for drugs/clinical trials and news about PRNP / PRIO 

    Transcripts
    for PRNP gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PRNP gene (6 alternative transcripts): 
    NM_000311.3  NM_001080121.1  NM_001080122.1  NM_001080123.1  NM_001271561.1  NM_183079.2  

    Unigene Clusters for PRNP:

    Prion protein
    Hs.472010  [show with all ESTs], Hs.721670  [show with all ESTs]
    Unigene Representative Sequences: NM_000311, CD513505
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379440(uc002wkt.1 uc002wkv.3 uc002wkw.3 uc002wkx.3 uc002wky.3)
    ENST00000430350(uc002wku.3) ENST00000424424 ENST00000457586

    miRNA
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    hsa-miR-142-5p hsa-miR-548j hsa-miR-607 hsa-miR-548k hsa-miR-301a hsa-miR-219-5p hsa-miR-548l hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmid: PRNP 3' UTR sequence
    Inhib. RNA
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRNP

    Additional cDNA sequence: 

    AB300825.1 AB300826.1 

    24/31 DOTS entries (see all 31):

    DT.92456884  DT.120809501  DT.91729019  DT.100882031  DT.95116132  DT.101976293  DT.100882026  DT.100882036 
    DT.120809636  DT.92456894  DT.92456889  DT.92456882  DT.100030812  DT.120809855  DT.92456883  DT.100882034 
    DT.95116141  DT.120809922  DT.120809461  DT.92456872  DT.95116123  DT.100882029  DT.120809359  DT.120809384 

    24/508 AceView cDNA sequences (see all 508):

    BQ019531 NM_000311 BX387765 BM311109 BM995502 BU191819 N48643 CD365268 
    BP348807 AI350081 BU683405 BP361815 CA844044 BU685159 BQ086235 BM992911 
    BX952181 AV727231 BQ005915 AW770009 BQ893030 BP348938 BC012844 BP353245 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for PRNP (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4
    SP1:              -     -           -     -         
    SP2:              -     -                           
    SP3:              -     -                           
    SP4:              -     -                           
    SP5:              -     -                           


    ECgene alternative splicing isoforms for PRNP

    Expression
    for PRNP gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PRNP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCTTGTTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PRNP expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/11 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 11) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyComma-shaped BodyComma-shaped Body CellsKidney
    KidneyLoop of HenleLoop of Henle CellsKidney
    KidneyProximal TubuleProximal Tubule CellsKidney
    KidneyS-shaped BodyS-shaped Body CellsKidney
    BrainCerebral CortexBrain
    KidneyComma-shaped BodyKidney
    KidneyLoop of HenleKidney
    KidneyMetanephrosKidney
    KidneyProximal TubuleKidney
    KidneyS-shaped BodyKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PRNP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRNP

    SOURCE GeneReport for Unigene clusters: Hs.472010 Hs.721670
        SABiosciences Expression via Pathway-Focused PCR Arrays including PRNP: 
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Apoptosis 384HT in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PRNP
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRNP
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRNP

    Orthologs
    for PRNP gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for PRNP gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Prnp1 , 5 prion protein1, 5 85.32(n)1
    90.08(a)1    		   2 (64.07 cM)5
    191221  NM_011170.21  NP_035300.11 
     1319099285 
    chicken
    (Gallus gallus)    		 Aves PRNP1 prion protein 57.35(n)
    47.06(a)    		   396452  NM_205465.1  NP_990796.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 --
    		 34(a)
    29(a)
    		 many → 1
    many → 1
    		 GL343406.1(899252-900013)
    GL343406.1(889243-890645)


    ENSEMBL Gene Tree for PRNP (if available)
    TreeFam Gene Tree for PRNP (if available) 

    Paralogs
    for PRNP gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for PRNP gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: PRIO_HUMAN, P04156
    Polymorphism: The five tandem octapeptide repeats region is highly unstable. Insertions or deletions of octapeptide
    repeat units are associated to prion disease


    10/347 NCBI SNPs in PRNP are shown (see all 347)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 20 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs743154141,2
    		Cpathogenic4633577(+) GTAAGA/C/TCAAAA 17 T P S mis1 ut310--------
    rs115387581,2
    		C,Hpathogenic4633578(+) TAAGCA/C/TAAAAA 17 Q P L mis1 ut315NS EA NA 400
    rs743154021,2
    		Cpathogenic4633614(+) TGCAGC/TAGCTG 11 A V mis1 ut310--------
    rs17999901,2
    		C,F,A,H,pathogenic4633649(+) GCTACA/GTGCTG 11 M V mis1 ut3131Minor allele frequency- G:0.30MN NA EA NS CSA WA EU 8922
    rs743154101,2
    		Cpathogenic4633656(+) GCTGGG/TAAGTG 11 G V mis1 ut310--------
    rs743154151,2
    		Cpathogenic4633662(+) AAGTGC/TCATGA 11 A V mis1 ut310--------
    rs169900181,2
    		C,F,H,pathogenic4633776(+) CAGCAA/GCCAGA 11 N S mis1 ut3115Minor allele frequency- G:0.03NA NS EA WA 5998
    rs743154031,2
    		Cpathogenic4633796(+) TGCACA/GACTGC 11 N D mis1 ut310--------
    rs743154081,2
    		C,pathogenic4633802(+) ACTGCA/GTCAAT 11 I V mis1 ut310--------
    rs743154111,2
    		Cpathogenic4633811(+) ATATCA/GCAATC 11 T A mis1 ut310--------

    HapMap Linkage Disequilibrium report for PRNP (4666797 - 4682236 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PRNP: --
    Human Gene Mutation Database (HGMD): PRNP

    Locus Specific Mutation Databases (LSDB): PRNP

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PRNP
    DNA2.0 Custom Variant and Variant Library Synthesis for PRNP

    Disorders / Diseases
    for PRNP gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PRNP for disorders           About GeneDecksing

    OMIM gene information: 176640   
    OMIM disorders: 123400  137440  600072  606688  603218  
    UniProtKB/Swiss-Prot: PRIO_HUMAN, P04156
  • Note=PrP is found in high quantity in the brain of humans and animals infected with neurodegenerative diseases
    • known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD), fatal
    familial insomnia (FFI), Gerstmann-Straussler disease (GSD), Huntington disease-like type 1 (HDL1) and kuru in humans;
    scrapie in sheep and goat; bovine spongiform encephalopathy (BSE) in cattle; transmissible mink encephalopathy (TME);
    chronic wasting disease (CWD) of mule deer and elk; feline spongiform encephalopathy (FSE) in cats and exotic ungulate
    encephalopathy (EUE) in nyala and greater kudu. The prion diseases illustrate three manifestations of CNS
    degeneration: (1) infectious (2) sporadic and (3) dominantly inherited forms. TME, CWD, BSE, FSE, EUE are all thought
    to occur after consumption of prion-infected foodstuffs
  • Defects in PRNP are the cause of Creutzfeldt-Jakob disease (CJD) [MIM:123400]. CJD occurs primarily as a
    • sporadic disorder (1 per million), while 10-15% are familial. Accidental transmission of CJD to humans appears to be
    iatrogenic (contaminated human growth hormone (HGH), corneal transplantation, electroencephalographic electrode
    implantation, etc.). Epidemiologic studies have failed to implicate the ingestion of infected annimal meat in the
    pathogenesis of CJD in human. The triad of microscopic features that characterize the prion diseases consists of (1)
    spongiform degeneration of neurons, (2) severe astrocytic gliosis that often appears to be out of proportion to the
    degree of nerve cell loss, and (3) amyloid plaque formation. CJD is characterized by progressive dementia and
    myoclonic seizures, affecting adults in mid-life. Some patients present sleep disorders, abnormalities of high
    cortical function, cerebellar and corticospinal disturbances. The disease ends in death after a 3-12 months illness
  • Defects in PRNP are the cause of fatal familial insomnia (FFI) [MIM:600072]. FFI is an autosomal dominant
    • disorder and is characterized by neuronal degeneration limited to selected thalamic nuclei and progressive insomnia
  • Defects in PRNP are the cause of Gerstmann-Straussler disease (GSD) [MIM:137440]. GSD is a heterogeneous
    • disorder and was defined as a spinocerebellar ataxia with dementia and plaquelike deposits. GSD incidence is less than
    2 per 100 million live births
  • Defects in PRNP are the cause of Huntington disease-like type 1 (HDL1) [MIM:603218]. HDL1 is an autosomal
    • dominant, early onset neurodegenerative disorder with prominent psychiatric features
  • Defects in PRNP are the cause of kuru (KURU) [MIM:245300]. Kuru is transmitted during ritualistic cannibalism,
    • among natives of the New Guinea highlands. Patients exhibit various movement disorders like cerebellar abnormalities,
    rigidity of the limbs, and clonus. Emotional lability is present, and dementia is conspicuously absent. Death usually
    occurs from 3 to 12 month after onset
  • Defects in PRNP are the cause of spongiform encephalopathy with neuropsychiatric features (SENF) [MIM:606688];
    • an autosomal dominant presenile dementia with a rapidly progressive and protracted clinical course. The dementia was
    characterized clinically by frontotemporal features, including early personality changes. Some patients had memory
    loss, several showed aggressiveness, hyperorality and verbal stereotypy, others had parkinsonian symptoms

    20/92 diseases for PRNP (see all 92):    About MalaCards
    gerstmann-straussler-scheinker disease    huntington disease-like    fatal familial insomnia    huntington disease-like 1
    insomnia    variant creutzfeldt-jakob disease    huntington's disease    familial creutzfeldt-jakob disease
    prion disease with protracted course    estrogen-receptor negative breast cancer    cerebral amyloid angiopathy    bovine spongiform encephalopathy
    creutzfeldt-jakob syndrome    paroxysmal nocturnal hemoglobinuria    akinetic mutism    inclusion body myositis
    supranuclear palsy    amyotrophic lateral sclerosis    prion disease    primary progressive aphasia

    10 diseases from the University of Copenhagen DISEASES database for PRNP:
    Scrapie     Bovine spongiform encephalopathy     Chronic wasting disease     Fatal familial insomnia
    Creutzfeldt-Jakob syndrome     Gerstmann-Straussler-Scheinker disease     Toxic encephalopathy     Akinetic mutism
    Alzheimer's disease     Neuroblastoma

    10/84 Novoseek disease relationships for PRNP gene (see all 84)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prion diseases 98 690 7913756 (7), 7774117 (5), 17360589 (4), 18571782 (4) (see all 99)
    creutzfeldt-jakob disease 97.6 256 10762506 (3), 19092329 (2), 16217673 (2), 19703264 (2) (see all 99)
    gerstmann-straussler-scheinker disease 95.5 48 11087738 (3), 1677605 (1), 1686599 (1), 8097911 (1) (see all 41)
    insomnia fatal familial 94.6 36 1346338 (4), 19571725 (2), 8270114 (1), 9521257 (1) (see all 30)
    scrapie 94.4 246 7902565 (4), 11119579 (4), 1969126 (4), 1348570 (3) (see all 99)
    familial creutzfeldt-jakob disease 94.2 30 1351274 (1), 8270114 (1), 11568919 (1), 7767490 (1) (see all 28)
    kuru 94 39 8097911 (2), 19923577 (2), 9034563 (2), 18849292 (2) (see all 27)
    encephalopathy bovine spongiform 92.2 34 16141216 (2), 17947547 (1), 20429907 (1), 15107244 (1) (see all 27)
    neurodegenerative diseases 81.9 77 16055747 (3), 7913755 (1), 9003061 (1), 9276441 (1) (see all 64)
    new variant creutzfeldt-jakob disease 78 3 11833672 (1), 19495414 (1), 10878555 (1)

    GeneTests: PRNP
    Genetic Prion Diseases

    Genetic Association Database (GAD): PRNP
    Human Genome Epidemiology (HuGE) Navigator: PRNP (97 documents)

    Export disorders for PRNP gene to outside databases

    Publications
    for PRNP gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PRNP gene, integrated from 9 sources (see all 1239):
    (articles sorted by number of sources associating them with PRNP)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1. (PubMed id 11704923)1, 4, 9 Mead S....Collinge J. (2001)
    2. Molecular features of the copper binding sites in the octarepeat domain of the prion protein. (PubMed id 11900542)1, 2, 9 Burns C.S....Millhauser G.L. (2002)
    3. Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype. (PubMed id 10790216)1, 2, 9 Peoc'h K.... Laplanche J.-L. (2000)
    4. Molecular genetics of human prion diseases in Germany. (PubMed id 10987652)1, 2, 9 Windl O.... Kretzschmar H.A. (1999)
    5. Association of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population. (PubMed id 16217673)1, 4, 9 Jeong B.H....Kim Y.S. (2005)
    6. Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease. (PubMed id 14970845)1, 4, 9 Croes E.A....van Duijn C.M. (2004)
    7. Polymorphisms within the prion (PrP) and prion-like protein (Doppel) genes in AD. (PubMed id 14745079)1, 4, 9 Golanska E....Liberski P.P. (2004)
    8. Solution structure of the E200K variant of human prion protein. Implications for the mechanism of pathogenesis in familial prion diseases. (PubMed id 10954699)1, 2, 9 Zhang Y....Soennichsen F.D. (2000)
    9. High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. (PubMed id 10631141)1, 2, 9 Finckh U.... Gal A. (2000)
    10. Conformational diversity in prion protein variants in fluences intermolecular beta-sheet formation. (PubMed id 19927125)1, 2, 9 Lee S....Yee V.C. (2010)

    External Searches for PRNP gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PRNP gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5621 HGNC: 9449 AceView: PRNP Ensembl:ENSG00000171867 euGenes: HUgn5621
    ECgene: PRNP Kegg: 5621 H-InvDB: PRNP

    Other Databases showing PRNP gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PRNP gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PRNP Pharmacogenomics, SNPs, Pathways
    The Official Mad Cow Disease Home Pagehttp://www.mad-cow.org/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRNP
    Wikipedia http://en.wikipedia.org/wiki/PRNP

    Intellectual Property
    for PRNP gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PRNP gene:
    Search GeneIP for patents involving PRNP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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