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    PRNP prion protein (Kanno blood group) [ Homo sapiens (human) ]

    Gene ID: 5621, updated on 23-Sep-2024

    Summary

    Official Symbol
    PRNPprovided by HGNC
    Official Full Name
    prion protein (Kanno blood group)provided by HGNC
    Primary source
    HGNC:HGNC:9449
    See related
    Ensembl:ENSG00000171867 MIM:176640; AllianceGenome:HGNC:9449
    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
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PRNP in Genome Data Viewer
    Location:
    20p13
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (4686456..4701588)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (4725692..4740800)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (4667102..4682234)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12642 Neighboring gene ribosomal protein L7a pseudogene 12 Neighboring gene ribosomal protein S4X pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:4646806-4647007 Neighboring gene CRISPRi-validated cis-regulatory element chr20.345 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:4666899-4667840 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:4667841-4668780 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:4679719-4680955 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:4690405-4690906 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:4693569-4694768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17496 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 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

    EBI GWAS Catalog

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

    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

    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 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 molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables molecular condensate scaffold activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables molecular function activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 protein-folding chaperone binding IEA
    Inferred from Electronic Annotation
    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 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 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 intracellular copper ion homeostasis NAS
    Non-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 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 catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of dendritic spine maintenance 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 negative regulation of type II interferon production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron projection maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of calcium-mediated signaling IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of glutamate receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 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 cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of glutamate receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 cell surface HDA PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    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
     
    is_active_in dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in external side of plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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 mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    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
      O60489, P04156, P78446, Q15216, Q15221, Q27H91, Q5QPB4, Q8TBG0, Q96E70, Q9UP19
      UniProtKB/TrEMBL
      A0A6J4EE43, B2R5Q9, Q53YK7, Q6FGN5
      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
      O60489, P04156, P78446, Q15216, Q15221, Q27H91, Q5QPB4, Q8TBG0, Q96E70, Q9UP19
      UniProtKB/TrEMBL
      A0A6J4EE43, B2R5Q9, Q53YK7, Q6FGN5
      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
      O60489, P04156, P78446, Q15216, Q15221, Q27H91, Q5QPB4, Q8TBG0, Q96E70, Q9UP19
      UniProtKB/TrEMBL
      A0A6J4EE43, B2R5Q9, Q53YK7, Q6FGN5
      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
      O60489, P04156, P78446, Q15216, Q15221, Q27H91, Q5QPB4, Q8TBG0, Q96E70, Q9UP19
      UniProtKB/TrEMBL
      A0A6J4EE43, B2R5Q9, Q53YK7, Q6FGN5
      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
      UniProtKB/TrEMBL
      K0P2W7
    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
      O60489, P04156, P78446, Q15216, Q15221, Q27H91, Q5QPB4, Q8TBG0, Q96E70, Q9UP19
      UniProtKB/TrEMBL
      A0A6J4EE43, B2R5Q9, Q53YK7, Q6FGN5
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      4725692..4740800
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)