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    PRNP prion protein [ Homo sapiens (human) ]

    Gene ID: 5621, updated on 12-Sep-2021

    Summary

    Official Symbol
    PRNPprovided by HGNC
    Official Full Name
    prion proteinprovided by HGNC
    Primary source
    HGNC:HGNC:9449
    See related
    Ensembl:ENSG00000171867 MIM:176640
    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]
    Expression
    Ubiquitous expression in brain (RPKM 148.7), ovary (RPKM 52.6) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PRNP in Genome Data Viewer
    Location:
    20p13
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (4686456..4701588)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (4667102..4682234)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S4X pseudogene 2 Neighboring gene CRISPRi-validated cis-regulatory element chr20.345 Neighboring gene prion like protein doppel Neighboring gene prion locus lncRNA, testis expressed Neighboring gene IDI1 pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Creutzfeldt-Jakob Disease, Familial
    MedGen: C0751254 OMIM: 123400 GeneReviews: Genetic Prion Disease
    Compare labs
    Fatal familial insomnia
    MedGen: C0206042 OMIM: 600072 GeneReviews: Genetic Prion Disease
    Compare labs
    Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study.
    GeneReviews: Not available
    Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
    GeneReviews: Not available
    Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
    GeneReviews: Not available
    Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.
    GeneReviews: Not available
    Gerstmann-Straussler-Scheinker syndrome
    MedGen: C0017495 OMIM: 137440 GeneReviews: Genetic Prion Disease
    Compare labs
    Huntington disease-like 1
    MedGen: C1864112 OMIM: 603218 GeneReviews: Genetic Prion Disease
    Compare labs
    Kuru, susceptibility to
    MedGen: C1855588 OMIM: 245300 GeneReviews: Genetic Prion Disease
    Compare labs
    Spongiform encephalopathy with neuropsychiatric features
    MedGen: C1847650 OMIM: 606688 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC26679

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    major prion protein; alternative prion protein
    Names
    CD230 antigen
    prion-related protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5306..20438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000311.5NP_000302.1  major prion protein preproprotein Prp precursor

      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, ENST00000379440.9
      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_001080121.3NP_001073590.1  major prion protein preproprotein Prp precursor

      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 protein (Prp).
      Source sequence(s)
      AI131269, BP251427, M13899
      Consensus CDS
      CCDS13080.1
      UniProtKB/Swiss-Prot
      P04156
      UniProtKB/TrEMBL
      Q53YK7
      Related
      ENSP00000411599.2, ENST00000424424.2
      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_001080122.3NP_001073591.1  major prion protein preproprotein Prp precursor

      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 protein (Prp).
      Source sequence(s)
      AI131269, BI669189, 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_001080123.3NP_001073592.1  major prion protein preproprotein Prp precursor

      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 protein (Prp).
      Source sequence(s)
      AI131269, AL133396, DB461478, DB485147, M13899
      Consensus CDS
      CCDS13080.1
      UniProtKB/Swiss-Prot
      P04156
      UniProtKB/TrEMBL
      Q53YK7
      Related
      ENSP00000415284.2, ENST00000457586.2
      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_001271561.3NP_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 distinct proteins due to the use of alternate translation initiation codons. The longer protein (Prp, PMID:21478263) represents the canonical protein, while a shorter protein (AltPrp, PMID:21478263) that uses a different, but overlapping reading frame has also been described. Alternative prion protein (AltPrp) has no sequence similarity to Prp and localizes to the outer mitochondrial membrane. This RefSeq represents the shorter protein, AltPrp.
      Source sequence(s)
      AI131269, AY008282, BC022532, DC325819
      UniProtKB/Swiss-Prot
      F7VJQ1, P04156
    6. NM_183079.4NP_898902.1  major prion protein preproprotein Prp precursor

      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 distinct proteins due to the use of alternate translation initiation codons. The longer protein (Prp, PMID:21478263) represents the canonical protein, while a shorter protein (AltPrp, PMID:21478263) that uses a different, but overlapping reading frame has also been described. This RefSeq represents the longer protein, Prp. Variants 1-5 can all encode the same protein (Prp).
      Source sequence(s)
      AI131269, AY008282, BC022532, DC325819
      Consensus CDS
      CCDS13080.1
      UniProtKB/Swiss-Prot
      P04156
      UniProtKB/TrEMBL
      Q53YK7
      Related
      ENSP00000399376.2, ENST00000430350.2
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

      Range
      4686456..4701588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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