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PRNP prion protein [ Homo sapiens (human) ]

Gene ID: 5621, updated on 11-Nov-2019

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

Genomic context

See PRNP in Genome Data Viewer
Location:
20p13
Exon count:
2
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (4686456..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

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

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

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 BioSystems

  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Copper homeostasis, organism-specific biosystem (from WikiPathways)
    Copper homeostasis, organism-specific biosystemCopper is a redox-active transition metal and an essential trace element for life. It is a catalytic cofactor for numerous enzymes involved in critical biological processes (eg. detoxyfication by oxy...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Ferroptosis, organism-specific biosystem (from KEGG)
    Ferroptosis, organism-specific biosystemFerroptosis is a regulated form of cell death and characterized by a production of reactive oxygen species (ROS) from accumulated iron and lipid peroxidation. It can be induced by experimental compou...
  • Ferroptosis, conserved biosystem (from KEGG)
    Ferroptosis, conserved biosystemFerroptosis is a regulated form of cell death and characterized by a production of reactive oxygen species (ROS) from accumulated iron and lipid peroxidation. It can be induced by experimental compou...
  • 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)
    NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
  • 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)
    Prion diseases, organism-specific biosystemPrion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of ...
  • Prion diseases, conserved biosystem (from KEGG)
    Prion diseases, conserved biosystemPrion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of ...

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
ATP-dependent protein binding IEA
Inferred from Electronic Annotation
more info
 
amyloid-beta binding IDA
Inferred from Direct Assay
more info
PubMed 
amyloid-beta binding IPI
Inferred from Physical Interaction
more info
PubMed 
amyloid-beta binding ISS
Inferred from Sequence or Structural Similarity
more info
 
amyloid-beta binding TAS
Traceable Author Statement
more info
PubMed 
aspartic-type endopeptidase inhibitor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-dependent protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chaperone binding IEA
Inferred from Electronic Annotation
more info
 
chondroitin sulfate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
heparin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding ISS
Inferred from Sequence or Structural Similarity
more info
 
signaling receptor activity ISS
Inferred from Sequence or Structural Similarity
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
Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
dendritic spine maintenance TAS
Traceable Author Statement
more info
PubMed 
epithelial cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
learning or memory ISS
Inferred from Sequence or Structural Similarity
more info
 
long-term memory 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 DNA-binding transcription factor activity 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 dendritic spine maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of endopeptidase activity 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 
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 neuron death ISS
Inferred from Sequence or Structural Similarity
more info
 
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 ISS
Inferred from Sequence or Structural Similarity
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of glutamate receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of intracellular calcium activated chloride channel activity IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of peptidyl-tyrosine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
response to amyloid-beta ISS
Inferred from Sequence or Structural Similarity
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
 
anchored component of external side of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
cell IEA
Inferred from Electronic Annotation
more info
 
cell surface HDA PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
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 HDA 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
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic density TAS
Traceable Author Statement
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    ENSP00000411599.1, ENST00000424424.1
    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
    ENSP00000415284.1, ENST00000457586.1
    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 Annotation Release 109.20190905

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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