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PRNP prion protein [ Homo sapiens (human) ]

Gene ID: 5621, updated on 11-Sep-2014
Official Symbol
PRNPprovided by HGNC
Official Full Name
prion proteinprovided by HGNC
Primary source
HGNC:HGNC:9449
Locus tag
RP5-1068H6.2
See related
Ensembl:ENSG00000171867; HPRD:01453; 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, Oct 2012]
See PRNP in Epigenomics, MapViewer
Location:
20p13
Exon count:
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 protein 2 (dublet) Neighboring gene prion protein (testis specific)

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 Protein Interaction Database

  • 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...
  • 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...
  • 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 ...
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
 
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 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
axon guidance TAS
Traceable Author Statement
more info
 
cell cycle arrest IEA
Inferred from Electronic Annotation
more info
 
cellular copper ion homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
learning or memory IEA
Inferred from Electronic Annotation
more info
 
metabolic process TAS
Traceable Author Statement
more info
PubMed 
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 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 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 protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of sequence-specific DNA binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of protein localization IEA
Inferred from Electronic Annotation
more info
 
response to cadmium ion IEA
Inferred from Electronic Annotation
more info
 
response to copper 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 membrane IEA
Inferred from Electronic Annotation
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic component of membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
alternative prion protein; major prion protein
Names
major prion protein
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 

    Range
    5001..20438
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000311.3NP_000302.1  major prion protein preproprotein

    See proteins identical to NP_000302.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1-5 encode the same protein.
    Source sequence(s)
    AW452130, BC022532, DA297032, M13899
    Consensus CDS
    CCDS13080.1
    UniProtKB/Swiss-Prot
    P04156
    UniProtKB/TrEMBL
    Q53YK7
    Related
    ENSP00000368752, OTTHUMP00000030162, ENST00000379440, OTTHUMT00000077820
    Conserved Domains (2) summary
    smart00157
    Location:23240
    Blast Score: 829
    PRP; Major prion protein
    pfam11587
    Location:128
    Blast Score: 126
    Prion_bPrPp; Major prion protein bPrPp - N terminal
  2. NM_001080121.1NP_001073590.1  major prion protein preproprotein

    See proteins identical to NP_001073590.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.
    Source sequence(s)
    AW452130, BC022532, BP251427, DA122620, M13899
    Consensus CDS
    CCDS13080.1
    UniProtKB/Swiss-Prot
    P04156
    UniProtKB/TrEMBL
    Q53YK7
    Conserved Domains (2) summary
    smart00157
    Location:23240
    Blast Score: 829
    PRP; Major prion protein
    pfam11587
    Location:128
    Blast Score: 126
    Prion_bPrPp; Major prion protein bPrPp - N terminal
  3. NM_001080122.1NP_001073591.1  major prion protein preproprotein

    See proteins identical to NP_001073591.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.
    Source sequence(s)
    AW452130, BC022532, BI669189, DA297032, M13899
    Consensus CDS
    CCDS13080.1
    UniProtKB/Swiss-Prot
    P04156
    UniProtKB/TrEMBL
    Q53YK7
    Conserved Domains (2) summary
    smart00157
    Location:23240
    Blast Score: 829
    PRP; Major prion protein
    pfam11587
    Location:128
    Blast Score: 126
    Prion_bPrPp; Major prion protein bPrPp - N terminal
  4. NM_001080123.1NP_001073592.1  major prion protein preproprotein

    See proteins identical to NP_001073592.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.
    Source sequence(s)
    BC022532, DB461478, M13899
    Consensus CDS
    CCDS13080.1
    UniProtKB/Swiss-Prot
    P04156
    UniProtKB/TrEMBL
    Q53YK7
    Conserved Domains (2) summary
    smart00157
    Location:23240
    Blast Score: 829
    PRP; Major prion protein
    pfam11587
    Location:128
    Blast Score: 126
    Prion_bPrPp; Major prion protein bPrPp - N terminal
  5. NM_001271561.1NP_001258490.1  alternative prion protein isoform AltPrp

    See proteins identical to NP_001258490.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) represents the longest transcript but encodes a shorter protein from an overlapping reading frame, compared to variant 1. Alternative prion protein (AltPrp) has no similarity to other isoforms encoded by this gene and localizes to the outer mitochondrial membrane.
    Source sequence(s)
    AL133396
    UniProtKB/Swiss-Prot
    F7VJQ1
  6. NM_183079.2NP_898902.1  major prion protein preproprotein

    See proteins identical to NP_898902.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.
    Source sequence(s)
    AW452130, AY008282, BC022532, DA122620
    Consensus CDS
    CCDS13080.1
    UniProtKB/Swiss-Prot
    P04156
    UniProtKB/TrEMBL
    Q53YK7
    Related
    ENSP00000399376, OTTHUMP00000030163, ENST00000430350, OTTHUMT00000077821
    Conserved Domains (2) summary
    smart00157
    Location:23240
    Blast Score: 829
    PRP; Major prion protein
    pfam11587
    Location:128
    Blast Score: 126
    Prion_bPrPp; Major prion protein bPrPp - N terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000020.11 

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

Alternate HuRef

Genomic

  1. AC_000152.1 

    Range
    4620194..4635632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 

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