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Aliases for PRNP Gene

Aliases for PRNP Gene

  • Prion Protein 2 3 5
  • CD230 Antigen 3 4
  • PrP33-35C 3 4
  • PrP27-30 3 4
  • P27-30 2 3
  • AltPrP 3 4
  • PRIP 3 4
  • ASCR 3 4
  • PRP 3 4
  • Gerstmann-Strausler-Scheinker Syndrome 2
  • Creutzfeldt-Jakob Disease 2
  • Alternative Prion Protein 3
  • Fatal Familial Insomnia 2
  • Prion Protein (P27-30) 2
  • Prion-Related Protein 3
  • Major Prion Protein 3
  • CD230 3
  • KURU 3
  • PrPc 3
  • CJD 3
  • GSS 3

External Ids for PRNP Gene

Previous HGNC Symbols for PRNP Gene

  • PRIP
  • GSS
  • CJD

Previous GeneCards Identifiers for PRNP Gene

  • GC20P004655
  • GC20P004662

Summaries for PRNP Gene

Entrez Gene Summary for PRNP Gene

  • 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]

GeneCards Summary for PRNP Gene

PRNP (Prion Protein) is a Protein Coding gene. Diseases associated with PRNP include Creutzfeldt-Jakob Disease and Gerstmann-Straussler Disease. Among its related pathways are Glypican 1 network and Copper homeostasis. GO annotations related to this gene include identical protein binding and chaperone binding.

UniProtKB/Swiss-Prot for PRNP Gene

  • Its primary physiological function is unclear. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May promote myelin homeostasis through acting as a agonist for ADGRG6 receptor. May play a role in iron uptake and iron homeostasis. Soluble oligomers are toxic to cultured neuroblastoma cells and induce apoptosis (in vitro) (By similarity). Association with GPC1 (via its heparan sulfate chains) targets PRNP to lipid rafts. Also provides Cu(2+) or ZN(2+) for the ascorbate-mediated GPC1 deaminase degradation of its heparan sulfate side chains (By similarity).

Tocris Summary for PRNP Gene

Gene Wiki entry for PRNP Gene

Additional gene information for PRNP Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRNP Gene

Genomics for PRNP Gene

Regulatory Elements for PRNP Gene

Enhancers for PRNP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H004612 1.2 Ensembl ENCODE 21.6 -72.2 -72213 2 ZFP64 RAD21 ZEB1 ZNF138 ZNF366 ZNF354C ZNF143 ATF7 RUNX3 ZNF202 ENSG00000229539 ADAM33 PRNP PCNA CDS2 SPEF1 RPS4XP2 RPL7AP12
GH20H004949 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +264.8 264787 2 HDGF CTCF JUN CEBPG RAD21 YY1 LCORL HSF1 HNF4G SMC3 MCM8 LOC100421361 PRNT RASSF2 ENSG00000252096 PRNP PRND LINC00658 SLC23A2 GC20M004944
GH20H004998 1.5 Ensembl ENCODE dbSUPER 10.2 +314.0 313988 4 HDGF PKNOX1 ZFP64 SIN3A ARID4B YY1 GLIS2 ZNF143 ATF7 RUNX3 TMEM230 PRNT LOC100421361 PRNP SLC23A2 GC20M004944
GH20H003809 1.4 ENCODE dbSUPER 10.2 -874.2 -874164 4 HDGF FOXA2 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ENSG00000229539 VPS16 ADAM33 UBOX5 PCED1A C20orf194 MAVS CDC25B PRNP SPEF1
GH20H004684 1.1 ENCODE 11.7 +0.8 803 5 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 FOS SP3 PRNP PRND LOC100421361 PRNT GC20P004700
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRNP on UCSC Golden Path with GeneCards custom track

Promoters for PRNP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000133965 649 1601 ARID4B SIN3A DMAP1 YY1 GLIS2 FOS SP3 SP5 MXD4 TSHZ1

Genomic Location for PRNP Gene

Chromosome:
20
Start:
4,686,151 bp from pter
End:
4,701,590 bp from pter
Size:
15,440 bases
Orientation:
Plus strand

Genomic View for PRNP Gene

Genes around PRNP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRNP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRNP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRNP Gene

Proteins for PRNP Gene

  • Protein details for PRNP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    F7VJQ1-APRIO_HUMAN
    Recommended name:
    Alternative prion protein
    Protein Accession:
    F7VJQ1

    Protein attributes for PRNP Gene

    Size:
    73 amino acids
    Molecular mass:
    8691 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The alternative prion protein/AltPrP and PRNP (AC P04156) have no apparent direct functional relation since a mutation that removes the start codon of the AltPrP has no apparent effect on the biology of PRNP. In mouse and hamster, the alternative initiation AUG codon is absent and is replaced by a GUG codon (PubMed:21478263).
    • This protein is produced by a bicistronic gene which also produces the major prion protein/PRNP from an overlapping reading frame.

    Alternative splice isoforms for PRNP Gene

    UniProtKB/Swiss-Prot:
  • Protein details for PRNP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04156-PRIO_HUMAN
    Recommended name:
    Major prion protein
    Protein Accession:
    P04156
    Secondary Accessions:
    • O60489
    • P78446
    • Q15216
    • Q15221
    • Q27H91
    • Q5QPB4
    • Q8TBG0
    • Q96E70
    • Q9UP19

    Protein attributes for PRNP Gene

    Size:
    253 amino acids
    Molecular mass:
    27661 Da
    Quaternary structure:
    • Monomer and homodimer. Has a tendency to aggregate into amyloid fibrils containing a cross-beta spine, formed by a steric zipper of superposed beta-strands. Soluble oligomers may represent an intermediate stage on the path to fibril formation. Copper binding may promote oligomerization (PubMed:11524679, PubMed:11900542, PubMed:14623188, PubMed:17468747, PubMed:19204296, PubMed:19927125, PubMed:20375014, PubMed:20564047). Interacts with GRB2, APP, ERI3/PRNPIP and SYN1. Mislocalized cytosolically exposed PrP interacts with MGRN1; this interaction alters MGRN1 subcellular location and causes lysosomal enlargement (By similarity). Interacts with KIAA1191 (PubMed:21153684). Interacts with ADGRG6 (By similarity).
    Miscellaneous:
    • The alternative prion protein/AltPrP (AC F7VJQ1) and PRNP have no apparent direct functional relation since a mutation that removes the start codon of the AltPrP has no apparent effect on the biology of PRNP. In mouse and hamster, the alternative initiation AUG codon is absent and is replaced by a GUG codon.
    • This protein is produced by a bicistronic gene which also produces the The alternative prion protein/AltPrP (AC F7VJQ1) from an overlapping reading frame.

    Three dimensional structures from OCA and Proteopedia for PRNP Gene

    Alternative splice isoforms for PRNP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRNP Gene

Post-translational modifications for PRNP Gene

  • Isoform 2 is sumoylated with SUMO1.
  • The glycosylation pattern (the amount of mono-, di- and non-glycosylated forms or glycoforms) seems to differ in normal and CJD prion.
  • Glycosylation at isoforms=295, Asn181, Thr193, and isoforms=2197
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PRNP (PRNP)

No data available for DME Specific Peptides for PRNP Gene

Domains & Families for PRNP Gene

Gene Families for PRNP Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for PRNP Gene

Graphical View of Domain Structure for InterPro Entry

P04156

UniProtKB/Swiss-Prot:

PRIO_HUMAN :
  • The normal, monomeric form, PRPN(C), has a mainly alpha-helical structure. Misfolding of this form produces a disease-associated, protease-resistant form, PRPN (Sc), accompanied by a large increase of the beta-sheet content and formation of amyloid fibrils. These fibrils consist of a cross-beta spine, formed by a steric zipper of superposed beta-strands. Disease mutations may favor intermolecular contacts via short beta strands, and may thereby trigger oligomerization. In addition, the heparan-sulfate proteoglycan, GPC1, promotes the association of PRPN (C) to lipid rafts and appears to facilitate the conversion to PRPN (Sc).
  • Belongs to the prion family.
Domain:
  • The normal, monomeric form, PRPN(C), has a mainly alpha-helical structure. Misfolding of this form produces a disease-associated, protease-resistant form, PRPN (Sc), accompanied by a large increase of the beta-sheet content and formation of amyloid fibrils. These fibrils consist of a cross-beta spine, formed by a steric zipper of superposed beta-strands. Disease mutations may favor intermolecular contacts via short beta strands, and may thereby trigger oligomerization. In addition, the heparan-sulfate proteoglycan, GPC1, promotes the association of PRPN (C) to lipid rafts and appears to facilitate the conversion to PRPN (Sc).
  • Contains an N-terminal region composed of octamer repeats. At low copper concentrations, the sidechains of His residues from three or four repeats contribute to the binding of a single copper ion. Alternatively, a copper ion can be bound by interaction with the sidechain and backbone amide nitrogen of a single His residue. The observed copper binding stoichiometry suggests that two repeat regions cooperate to stabilize the binding of a single copper ion. At higher copper concentrations, each octamer can bind one copper ion by interactions with the His sidechain and Gly backbone atoms. A mixture of binding types may occur, especially in the case of octamer repeat expansion. Copper binding may stabilize the conformation of this region and may promote oligomerization.
Family:
  • Belongs to the prion family.
genes like me logo Genes that share domains with PRNP: view

Function for PRNP Gene

Molecular function for PRNP Gene

GENATLAS Biochemistry:
prion protein (p27-30)
UniProtKB/Swiss-Prot Induction:
Up-regulated by endoplasmic reticulum stress and proteasomal inhibition.
UniProtKB/Swiss-Prot Function:
Its primary physiological function is unclear. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May promote myelin homeostasis through acting as a agonist for ADGRG6 receptor. May play a role in iron uptake and iron homeostasis. Soluble oligomers are toxic to cultured neuroblastoma cells and induce apoptosis (in vitro) (By similarity). Association with GPC1 (via its heparan sulfate chains) targets PRNP to lipid rafts. Also provides Cu(2+) or ZN(2+) for the ascorbate-mediated GPC1 deaminase degradation of its heparan sulfate side chains (By similarity).

Phenotypes From GWAS Catalog for PRNP Gene

Gene Ontology (GO) - Molecular Function for PRNP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding TAS 21593310
GO:0002020 protease binding ISS --
GO:0004871 signal transducer activity IEA --
GO:0004872 receptor activity IEA --
GO:0005507 copper ion binding TAS 16294306
genes like me logo Genes that share ontologies with PRNP: view
genes like me logo Genes that share phenotypes with PRNP: view

Human Phenotype Ontology for PRNP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRNP Gene

MGI Knock Outs for PRNP:

Animal Model Products

CRISPR Products

miRNA for PRNP Gene

miRTarBase miRNAs that target PRNP

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PRNP
  • Applied Biological Materials Clones for PRNP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PRNP Gene

Localization for PRNP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRNP Gene

Mitochondrion outer membrane; Single-pass membrane protein.
Cell membrane; Lipid-anchor, GPI-anchor. Golgi apparatus. Note=Targeted to lipid rafts via association with the heparan sulfate chains of GPC1. Colocates, in the presence of Cu(2+), to vesicles in para- and perinuclear regions, where both proteins undergo internalization. Heparin displaces PRNP from lipid rafts and promotes endocytosis. {ECO:0000269 PubMed:19936054}.
Isoform 2: Cytoplasm. Nucleus. Note=Accumulates outside the secretory route in the cytoplasm, from where it relocates to the nucleus. {ECO:0000269 PubMed:19059915}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRNP gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
cytoskeleton 2
mitochondrion 2
lysosome 2
endosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRNP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm TAS 16004966
GO:0005783 endoplasmic reticulum ISS --
GO:0005794 Golgi apparatus ISS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with PRNP: view

Pathways & Interactions for PRNP Gene

genes like me logo Genes that share pathways with PRNP: view

Pathways by source for PRNP Gene

1 Cell Signaling Technology pathway for PRNP Gene
2 BioSystems pathways for PRNP Gene

Gene Ontology (GO) - Biological Process for PRNP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation ISS --
GO:0006878 cellular copper ion homeostasis NAS 16004966
GO:0006979 response to oxidative stress ISS --
GO:0007049 cell cycle IEA --
GO:0007050 cell cycle arrest IEA --
genes like me logo Genes that share ontologies with PRNP: view

No data available for SIGNOR curated interactions for PRNP Gene

Drugs & Compounds for PRNP Gene

(33) Drugs for PRNP Gene - From: DrugBank, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tetracycline Approved, Vet_approved Pharma Target, inhibitor 109
Copper Approved Pharma Target, Enzyme, cofactor 188
MOG (35-55) Pharma Minor component of CNS myelin, Encephalitogenic myelin oligodendrocyte glycoprotein fragment 0

(30) Additional Compounds for PRNP Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
C3bot (154-182)
1246280-79-4
Nogo-66 (1-40)
475221-20-6
ONO 2506
185517-21-9
PLP (139-151)
122018-58-0

(5) Tocris Compounds for PRNP Gene

Compound Action Cas Number
C3bot (154-182) Neurotrophic fragment of clostridial C3 protein 1246280-79-4
MOG (35-55) Encephalitogenic myelin oligodendrocyte glycoprotein fragment 149635-73-4
Nogo-66 (1-40) Competitive antagonist for Nogo-66 receptor; promotes neuron regeneration 475221-20-6
ONO 2506 Inhibits S-100beta synthesis; neuroprotective 185517-21-9
PLP (139-151) Encephalitogenic myelin proteolipid fragment 122018-58-0
genes like me logo Genes that share compounds with PRNP: view

Transcripts for PRNP Gene

Unigene Clusters for PRNP Gene

Prion protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PRNP
  • Applied Biological Materials Clones for PRNP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PRNP Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4
SP1: - - - -
SP2: - -
SP3: - -
SP4: - -
SP5: - -
SP6:
SP7:

Relevant External Links for PRNP Gene

GeneLoc Exon Structure for
PRNP
ECgene alternative splicing isoforms for
PRNP

Expression for PRNP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRNP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PRNP Gene

This gene is overexpressed in Cerebrospinal fluid (16.4), Frontal cortex (8.8), and Liver (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PRNP Gene



NURSA nuclear receptor signaling pathways regulating expression of PRNP Gene:

PRNP

SOURCE GeneReport for Unigene cluster for PRNP Gene:

Hs.472010

mRNA Expression by UniProt/SwissProt for PRNP Gene:

F7VJQ1-APRIO_HUMAN
Tissue specificity: Detected in brain homogenate, primary neurons, and peripheral blood mononuclear cells (at protein level).

Evidence on tissue expression from TISSUES for PRNP Gene

  • Nervous system(5)
  • Blood(4.5)
  • Kidney(4.3)
  • Skin(3.4)
  • Heart(3.2)
  • Spleen(3)
  • Intestine(2.9)
  • Lymph node(2.9)
  • Eye(2.8)
  • Muscle(2.8)
  • Lung(2.6)
  • Adrenal gland(2.5)
  • Bone marrow(2.1)
  • Liver(2.1)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRNP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • mouth
  • pharynx
  • tongue
Thorax:
  • esophagus
  • lung
Abdomen:
  • intestine
  • large intestine
  • stomach
Pelvis:
  • prostate
  • rectum
  • urinary bladder
Limb:
  • lower limb
  • upper limb
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with PRNP: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for PRNP Gene

Orthologs for PRNP Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRNP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRNP 33 34
  • 99.21 (n)
cow
(Bos Taurus)
Mammalia PRP 34
  • 88 (a)
OneToOne
PRNP 33
  • 86.9 (n)
rat
(Rattus norvegicus)
Mammalia Prnp 33
  • 86.82 (n)
dog
(Canis familiaris)
Mammalia PRNP 34
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prnp 33 16 34
  • 84.13 (n)
oppossum
(Monodelphis domestica)
Mammalia PRNP 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRNP 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRNP 34
  • 36 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 36 (a)
OneToMany
-- 34
  • 31 (a)
OneToMany
Species where no ortholog for PRNP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PRNP Gene

ENSEMBL:
Gene Tree for PRNP (if available)
TreeFam:
Gene Tree for PRNP (if available)

Paralogs for PRNP Gene

No data available for Paralogs for PRNP Gene

Variants for PRNP Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PRNP Gene

PRIO_HUMAN-P04156
A number of polymorphisms confer resistance to prion diseases (PubMed:1439789, PubMed:9482303, PubMed:19923577, PubMed:26061765). Val-127 has been selected for in response to the Kuru epidemic and confers resistance to prion disease by acting as a dominant negative inhibitor of prion conversion (PubMed:26061765). Val-127 is not only itself resistant to conformational conversion, but also inhibits conversion of wild-type proteins. Confers protection against classical Creutzfeldt-Jakob disease (CJD) and Kuru in the heterozygous state, but can be infected with variant CJD prions, resulting from exposure to bovine spongiform encephalopathy prions. Confers complete resistance to all prion strains when homozygous (PubMed:26061765). Always associated with M-129 variant (PubMed:26061765). Val-129 confers relative protection against acquired, sporadic and some inherited prion diseases in the heterozygous state, possibly by preventing homodimerization (PubMed:1439789). Lys-219 confers relative protection against sporadic Creutzfeldt-Jakob disease (CJD) in the heterozygous state (PubMed:9482303).
PRIO_HUMAN-P04156
The five tandem octapeptide repeats region is highly unstable. Insertions or deletions of octapeptide repeat units are associated to prion disease.

Sequence variations from dbSNP and Humsavar for PRNP Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs11538758 Pathogenic, Gerstmann-Straussler disease (GSD) [MIM:137440] 4,699,534(+) TAAGC(A/C/T)AAAAA reference, missense, utr-variant-3-prime
rs28933385 Pathogenic, Creutzfeldt-Jakob disease (CJD) [MIM:123400] 4,699,818(+) TCACC(A/G)AGACC reference, missense, utr-variant-3-prime
rs398122370 Pathogenic, Creutzfeldt-Jakob disease (CJD) [MIM:123400] 4,699,851(+) TGGTT(C/G)AGCAG reference, missense, utr-variant-3-prime
rs74315401 Pathogenic, Gerstmann-Straussler disease (GSD) [MIM:137440] 4,699,525(+) CAAGC(C/T)GAGTA reference, synonymous-codon, missense
rs74315403 Pathogenic, Creutzfeldt-Jakob disease (CJD) [MIM:123400], Fatal familial insomnia (FFI) [MIM:600072] 4,699,752(+) TGCAC(A/G)ACTGC reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PRNP Gene

Variant ID Type Subtype PubMed ID
esv3645074 CNV gain 21293372
nsv1058830 CNV gain 25217958
nsv585310 CNV gain 21841781

Variation tolerance for PRNP Gene

Residual Variation Intolerance Score: 55.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.28; 85.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRNP Gene

Human Gene Mutation Database (HGMD)
PRNP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRNP

Disorders for PRNP Gene

MalaCards: The human disease database

(38) MalaCards diseases for PRNP Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
creutzfeldt-jakob disease
  • creutzfeldt-jakob disease, variant
gerstmann-straussler disease
  • cerebral amyloid angiopathy, prnp-related
insomnia, fatal familial
  • fatal familial insomnia
huntington disease-like 1
  • autosomal dominant huntington-like neurodegenerative disorder
prion disease with protracted course
  • spongiform encephalopathy with neuropsychiatric features
- elite association - COSMIC cancer census association via MalaCards
Search PRNP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRIO_HUMAN
  • Creutzfeldt-Jakob disease (CJD) [MIM:123400]: Occurs primarily as a sporadic disorder (1 per million), while 10-15% are familial. Accidental transmission of CJD to humans appears to be iatrogenic (contaminated human growth hormone (HGH), corneal transplantation, electroencephalographic electrode implantation, etc.). Epidemiologic studies have failed to implicate the ingestion of infected animal meat in the pathogenesis of CJD in human. The triad of microscopic features that characterize the prion diseases consists of (1) spongiform degeneration of neurons, (2) severe astrocytic gliosis that often appears to be out of proportion to the degree of nerve cell loss, and (3) amyloid plaque formation. CJD is characterized by progressive dementia and myoclonic seizures, affecting adults in mid-life. Some patients present sleep disorders, abnormalities of high cortical function, cerebellar and corticospinal disturbances. The disease ends in death after a 3-12 months illness. {ECO:0000269 PubMed:10790216, ECO:0000269 PubMed:1439789, ECO:0000269 PubMed:1671440, ECO:0000269 PubMed:1975028, ECO:0000269 PubMed:19927125, ECO:0000269 PubMed:7902693, ECO:0000269 PubMed:7906019, ECO:0000269 PubMed:7913755, ECO:0000269 PubMed:8461023, ECO:0000269 PubMed:8909447}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Fatal familial insomnia (FFI) [MIM:600072]: Autosomal dominant disorder and is characterized by neuronal degeneration limited to selected thalamic nuclei and progressive insomnia. {ECO:0000269 PubMed:1347910, ECO:0000269 PubMed:1439789, ECO:0000269 PubMed:19927125}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Gerstmann-Straussler disease (GSD) [MIM:137440]: A rare inherited prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. GSD presents with progressive limb and truncal ataxia, dysarthria, and cognitive decline in the thirties and forties, and the average disease duration is 7 years. {ECO:0000269 PubMed:10581485, ECO:0000269 PubMed:11709001, ECO:0000269 PubMed:1363810, ECO:0000269 PubMed:1439789, ECO:0000269 PubMed:19927125, ECO:0000269 PubMed:2564168, ECO:0000269 PubMed:7699395, ECO:0000269 PubMed:7783876, ECO:0000269 PubMed:7902972, ECO:0000269 PubMed:8797472, ECO:0000269 PubMed:9786248}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Huntington disease-like 1 (HDL1) [MIM:603218]: Autosomal dominant, early-onset neurodegenerative disorder with prominent psychiatric features. {ECO:0000269 PubMed:9792871}. Note=The disease is caused by mutations affecting the gene represented in this entry. {ECO:0000269 PubMed:9792871}.
  • Kuru (KURU) [MIM:245300]: Kuru is transmitted during ritualistic cannibalism, among natives of the New Guinea highlands. Patients exhibit various movement disorders like cerebellar abnormalities, rigidity of the limbs, and clonus. Emotional lability is present, and dementia is conspicuously absent. Death usually occurs from 3 to 12 month after onset. {ECO:0000269 PubMed:19923577, ECO:0000269 PubMed:26061765}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Note=PrP is found in high quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (FFI), Gerstmann-Straussler disease (GSD), Huntington disease-like type 1 (HDL1) and kuru in humans; scrapie in sheep and goat; bovine spongiform encephalopathy (BSE) in cattle; transmissible mink encephalopathy (TME); chronic wasting disease (CWD) of mule deer and elk; feline spongiform encephalopathy (FSE) in cats and exotic ungulate encephalopathy (EUE) in nyala and greater kudu. The prion diseases illustrate three manifestations of CNS degeneration: (1) infectious (2) sporadic and (3) dominantly inherited forms. TME, CWD, BSE, FSE, EUE are all thought to occur after consumption of prion-infected foodstuffs. {ECO:0000269 PubMed:8105771}.
  • Spongiform encephalopathy with neuropsychiatric features (SENF) [MIM:606688]: Autosomal dominant presenile dementia with a rapidly progressive and protracted clinical course. The dementia was characterized clinically by frontotemporal features, including early personality changes. Some patients had memory loss, several showed aggressiveness, hyperorality and verbal stereotypy, others had parkinsonian symptoms. {ECO:0000269 PubMed:12214108, ECO:0000269 PubMed:9266722}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRNP

Genetic Association Database (GAD)
PRNP
Human Genome Epidemiology (HuGE) Navigator
PRNP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRNP
genes like me logo Genes that share disorders with PRNP: view

No data available for Genatlas for PRNP Gene

Publications for PRNP Gene

  1. Conformational diversity in prion protein variants influences intermolecular beta-sheet formation. (PMID: 19927125) Lee S … Yee VC (The EMBO journal 2010) 3 4 22 60
  2. Clinical features of rapidly progressive Alzheimer's disease. (PMID: 20453509) Schmidt C … Zerr I (Dementia and geriatric cognitive disorders 2010) 3 22 45 60
  3. A novel protective prion protein variant that colocalizes with kuru exposure. (PMID: 19923577) Mead S … Collinge J (The New England journal of medicine 2009) 3 4 22 60
  4. PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism. (PMID: 20035629) Bishop MT … Knight RS (BMC medical genetics 2009) 3 22 45 60
  5. PRNP mutations in a series of apparently sporadic neurodegenerative dementias in China. (PMID: 18425766) Zheng L … Jianping J (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 22 45 60

Products for PRNP Gene

  • Addgene plasmids for PRNP

Sources for PRNP Gene

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