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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
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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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