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    PRNP prion protein [ Homo sapiens (human) ]

    Gene ID: 5621, updated on 8-Oct-2017
    Official Symbol
    PRNPprovided by HGNC
    Official Full Name
    prion proteinprovided by HGNC
    Primary source
    HGNC:HGNC:9449
    See related
    Ensembl:ENSG00000171867 MIM:176640; Vega:OTTHUMG00000031786
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CJD; GSS; PrP; ASCR; KURU; PRIP; PrPc; CD230; AltPrP; p27-30; PrP27-30; PrP33-35C
    Summary
    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, Nov 2014]
    Orthologs
    Location:
    20p13
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (4686151..4701588)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (4666797..4682235)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7a pseudogene 12 Neighboring gene ribosomal protein S4X pseudogene 2 Neighboring gene isopentenyl-diphosphate delta isomerase 1 pseudogene Neighboring gene prion like protein doppel Neighboring gene prion locus lncRNA, testis expressed

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study.
    NHGRI GWA Catalog
    Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
    NHGRI GWA Catalog
    Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
    NHGRI GWA Catalog
    Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Human cellular prion protein (CD230) colocalizes with HIV-1 Gag at the plasma membrane and at the virological synapse in infected T cells PubMed
    Tat tat HIV-1 Tat binds to a stem-loop structure in the mRNA of prion protein (PrP) that is similar to HIV-1 TAR RNA and infection of astrocytes with HIV-1 results in an increased level of PrP mRNA, suggesting Tat upregulates PrP expression PubMed
    nucleocapsid gag HIV-1 NC downregulates prion protein in HEK 293T cells PubMed

    Go to the HIV-1, Human Interaction Database

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    • Ferroptosis, organism-specific biosystem (from KEGG)
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    • Ferroptosis, conserved biosystem (from KEGG)
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    • Glypican 1 network, organism-specific biosystem (from Pathway Interaction Database)
      Glypican 1 network, organism-specific biosystem
      Glypican 1 network
    • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
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    • NCAM1 interactions, organism-specific biosystem (from REACTOME)
      NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
    • Prion diseases, organism-specific biosystem (from KEGG)
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    • Prion diseases, conserved biosystem (from KEGG)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC26679

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP-dependent protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    amyloid-beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    amyloid-beta binding TAS
    Traceable Author Statement
    more info
    PubMed 
    chaperone binding IEA
    Inferred from Electronic Annotation
    more info
     
    copper ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    copper ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    cupric ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    cuprous ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glycosaminoglycan binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    identical protein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ion channel binding IEA
    Inferred from Electronic Annotation
    more info
     
    lamin binding IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protease binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    signal transducer activity IEA
    Inferred from Electronic Annotation
    more info
     
    tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    type 5 metabotropic glutamate receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    type 5 metabotropic glutamate receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    NOT type 8 metabotropic glutamate receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    calcium-mediated signaling using intracellular calcium source IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cell cycle arrest IEA
    Inferred from Electronic Annotation
    more info
     
    cellular copper ion homeostasis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cellular response to amyloid-beta IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cellular response to copper ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    learning or memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    long-term memory TAS
    Traceable Author Statement
    more info
    PubMed 
    metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    modulation of age-related behavioral decline ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of T cell receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of activated T cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of amyloid precursor protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of amyloid-beta formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of calcineurin-NFAT signaling cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of dendritic spine maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of interferon-gamma production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of interleukin-17 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of interleukin-2 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of long-term synaptic potentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of protein processing TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of sequence-specific DNA binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron projection maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein targeting to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein tyrosine kinase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    protein destabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein homooligomerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of calcium ion import across plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of intracellular calcium activated chloride channel activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    response to cadmium ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to oxidative stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    colocalizes_with amyloid-beta complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    anchored component of external side of plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    colocalizes_with dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extrinsic component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    inclusion body IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane raft IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    postsynapse TAS
    Traceable Author Statement
    more info
    PubMed 
    postsynaptic density TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    major prion protein; alternative prion protein
    Names
    CD230 antigen
    prion-related protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009087.1 RefSeqGene

      Range
      4944..20440
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000311.4NP_000302.1  major prion protein isoform Prp preproprotein

      See identical proteins and their annotated locations for NP_000302.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1-5 can all encode the same isoform (Prp).
      Source sequence(s)
      AI131269, DC325819, M13899
      Consensus CDS
      CCDS13080.1
      UniProtKB/Swiss-Prot
      P04156
      UniProtKB/TrEMBL
      Q53YK7
      Related
      ENSP00000368752.4, OTTHUMP00000030162, ENST00000379440.8, OTTHUMT00000077820
      Conserved Domains (3) summary
      smart00157
      Location:23240
      PRP; Major prion protein
      pfam00377
      Location:134251
      Prion; Prion/Doppel alpha-helical domain
      pfam11587
      Location:128
      Prion_bPrPp; Major prion protein bPrPp - N terminal
    2. NM_001080121.2NP_001073590.1  major prion protein isoform Prp preproprotein

      See identical proteins and their annotated locations for NP_001073590.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-5 can all encode the same isoform (Prp).
      Source sequence(s)
      AI131269, BP251427, DC325819, M13899
      Consensus CDS
      CCDS13080.1
      UniProtKB/Swiss-Prot
      P04156
      UniProtKB/TrEMBL
      Q53YK7
      Related
      ENSP00000411599.1, OTTHUMP00000161139, ENST00000424424.1, OTTHUMT00000253008
      Conserved Domains (3) summary
      smart00157
      Location:23240
      PRP; Major prion protein
      pfam00377
      Location:134251
      Prion; Prion/Doppel alpha-helical domain
      pfam11587
      Location:128
      Prion_bPrPp; Major prion protein bPrPp - N terminal
    3. NM_001080122.2NP_001073591.1  major prion protein isoform Prp preproprotein

      See identical proteins and their annotated locations for NP_001073591.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-5 can all encode the same isoform (Prp).
      Source sequence(s)
      AI131269, BI669189, DC325819, M13899
      Consensus CDS
      CCDS13080.1
      UniProtKB/Swiss-Prot
      P04156
      UniProtKB/TrEMBL
      Q53YK7
      Conserved Domains (3) summary
      smart00157
      Location:23240
      PRP; Major prion protein
      pfam00377
      Location:134251
      Prion; Prion/Doppel alpha-helical domain
      pfam11587
      Location:128
      Prion_bPrPp; Major prion protein bPrPp - N terminal
    4. NM_001080123.2NP_001073592.1  major prion protein isoform Prp preproprotein

      See identical proteins and their annotated locations for NP_001073592.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-5 can all encode the same isoform (Prp).
      Source sequence(s)
      AI131269, DB461478, DB485147, M13899
      Consensus CDS
      CCDS13080.1
      UniProtKB/Swiss-Prot
      P04156
      UniProtKB/TrEMBL
      Q53YK7
      Related
      ENSP00000415284.1, OTTHUMP00000030161, ENST00000457586.1, OTTHUMT00000077819
      Conserved Domains (3) summary
      smart00157
      Location:23240
      PRP; Major prion protein
      pfam00377
      Location:134251
      Prion; Prion/Doppel alpha-helical domain
      pfam11587
      Location:128
      Prion_bPrPp; Major prion protein bPrPp - N terminal
    5. NM_001271561.2NP_001258490.1  alternative prion protein isoform AltPrp

      See identical proteins and their annotated locations for NP_001258490.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes multiple isoforms due to the use of alternative translation initiation codons. The longer isoform (Prp, PMID:21478263) represents the canonical isoform, while a shorter isoform (AltPrp, PMID:21478263) that uses a different reading frame has also been described. Alternative prion protein (AltPrp) has no similarity to other isoforms encoded by this gene and localizes to the outer mitochondrial membrane. This RefSeq represents the shorter isoform, AltPrp.
      Source sequence(s)
      AI131269, AY008282, BC022532, DC325819
      UniProtKB/Swiss-Prot
      F7VJQ1, P04156
    6. NM_183079.3NP_898902.1  major prion protein isoform Prp preproprotein

      See identical proteins and their annotated locations for NP_898902.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. This variant (2) encodes multiple isoforms due to the use of alternative translation initiation codons. The longer isoform (Prp, PMID:21478263) represents the canonical isoform, while a shorter isoform (AltPrp, PMID:21478263) that uses a different reading frame has also been described. Variants 1-5 can all encode the same isoform (Prp).
      Source sequence(s)
      AI131269, AY008282, BC022532, DC325819
      Consensus CDS
      CCDS13080.1
      UniProtKB/Swiss-Prot
      P04156
      UniProtKB/TrEMBL
      Q53YK7
      Related
      ENSP00000399376.2, OTTHUMP00000030163, ENST00000430350.2, OTTHUMT00000077821
      Conserved Domains (3) summary
      smart00157
      Location:23240
      PRP; Major prion protein
      pfam00377
      Location:134251
      Prion; Prion/Doppel alpha-helical domain
      pfam11587
      Location:128
      Prion_bPrPp; Major prion protein bPrPp - N terminal

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      4686151..4701588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      4667528..4682967
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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