Human Gene PRNP (ENST00000379440.9_5) from GENCODE V47lift37
  Description: prion protein, transcript variant 2 (from RefSeq NM_183079.4)
Gencode Transcript: ENST00000379440.9_5
Gencode Gene: ENSG00000171867.18_9
Transcript (Including UTRs)
   Position: hg19 chr20:4,667,102-4,682,234 Size: 15,133 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr20:4,679,867-4,680,628 Size: 762 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:4,667,102-4,682,234)mRNA (may differ from genome)Protein (253 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q53YK7_HUMAN
DESCRIPTION: RecName: Full=Major prion protein;
SIMILARITY: Belongs to the prion family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PRNP
Diseases sorted by gene-association score: creutzfeldt-jakob disease* (1807), gerstmann-straussler disease* (1712), insomnia, fatal familial* (1706), huntington disease-like 1* (1379), prion disease with protracted course* (1200), kuru* (656), genetic prion diseases* (500), familial alzheimer-like prion disease* (350), prp systemic amyloidosis* (350), prion disease (65), scrapie (51), chronic wasting disease (37), encephalopathy (28), huntington disease (20), dementia (20), akinetic mutism (12), cerebral amyloid angiopathy (12), leukoencephalopathy, diffuse hereditary, with spheroids (10), cerebral hemorrhage (8), aphasia (7), fourth cranial nerve palsy (7), auditory agnosia (6), visual cortex disease (5), visual pathway disease (5), corneal dystrophy, posterior amorphous (5), toxic encephalopathy (5), dementia, lewy body (5), spinocerebellar ataxia 12 (5), nervous system disease (5), murray valley encephalitis (4), amyloidosis (4), alzheimer disease (4), agraphia (4), paralytic squint (4), transient global amnesia (4), neuroblastoma (3), central nervous system disease (2), amyotrophic lateral sclerosis 1 (0)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 213.68 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 3642.89 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.9067-0.312 Picture PostScript Text
3' UTR -411.001606-0.256 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000817 - Prion
IPR022416 - Prion/Doppel_prot_b-ribbon_dom
IPR025860 - Prion_N_dom

Pfam Domains:
PF00377 - Prion/Doppel alpha-helical domain
PF11587 - Major prion protein bPrPp - N terminal

SCOP Domains:
54098 - Prion-like

ModBase Predicted Comparative 3D Structure on Q53YK7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001540 beta-amyloid binding
GO:0002020 protease binding
GO:0005507 copper ion binding
GO:0005521 lamin binding
GO:0005539 glycosaminoglycan binding
GO:0031802 type 5 metabotropic glutamate receptor binding
GO:0038023 signaling receptor activity
GO:0042802 identical protein binding
GO:0043008 ATP-dependent protein binding
GO:0044325 ion channel binding
GO:0044877 macromolecular complex binding
GO:0046872 metal ion binding
GO:0051087 chaperone binding
GO:1903135 cupric ion binding

Biological Process:
GO:0001933 negative regulation of protein phosphorylation
GO:0006979 response to oxidative stress
GO:0007611 learning or memory
GO:0010942 positive regulation of cell death
GO:0032147 activation of protein kinase activity
GO:0032689 negative regulation of interferon-gamma production
GO:0032700 negative regulation of interleukin-17 production
GO:0032703 negative regulation of interleukin-2 production
GO:0032880 regulation of protein localization
GO:0035584 calcium-mediated signaling using intracellular calcium source
GO:0035690 cellular response to drug
GO:0043066 negative regulation of apoptotic process
GO:0043086 negative regulation of catalytic activity
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0046007 negative regulation of activated T cell proliferation
GO:0046686 response to cadmium ion
GO:0046688 response to copper ion
GO:0050730 regulation of peptidyl-tyrosine phosphorylation
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0050860 negative regulation of T cell receptor signaling pathway
GO:0051260 protein homooligomerization
GO:0070885 negative regulation of calcineurin-NFAT signaling cascade
GO:0090314 positive regulation of protein targeting to membrane
GO:0090647 modulation of age-related behavioral decline
GO:1900272 negative regulation of long-term synaptic potentiation
GO:1900449 regulation of glutamate receptor signaling pathway
GO:1901216 positive regulation of neuron death
GO:1901379 regulation of potassium ion transmembrane transport
GO:1902430 negative regulation of beta-amyloid formation
GO:1902951 negative regulation of dendritic spine maintenance
GO:1902992 negative regulation of amyloid precursor protein catabolic process
GO:1903078 positive regulation of protein localization to plasma membrane
GO:1904645 response to beta-amyloid
GO:1904646 cellular response to beta-amyloid
GO:1905664 regulation of calcium ion import across plasma membrane
GO:1990535 neuron projection maintenance

Cellular Component:
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030425 dendrite
GO:0031965 nuclear membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0045121 membrane raft


-  Descriptions from all associated GenBank mRNAs
  JA482301 - Sequence 284 from Patent WO2011072091.
JA482302 - Sequence 285 from Patent WO2011072091.
JA482303 - Sequence 286 from Patent WO2011072091.
JA482304 - Sequence 287 from Patent WO2011072091.
JE980593 - Sequence 284 from Patent EP2862929.
JE980594 - Sequence 285 from Patent EP2862929.
JE980595 - Sequence 286 from Patent EP2862929.
JE980596 - Sequence 287 from Patent EP2862929.
LF383740 - JP 2014500723-A/191243: Polycomb-Associated Non-Coding RNAs.
X82545 - H.sapiens mRNA for prion protein.
HW581692 - JP 2014513065-A/21: Effective Amounts of (3aR)-1,3a,8-Trimethyl-1,2,3,3a,8,8a-hexahydropyrrolo[2,3 b]indol-5-yl Phenylcarbamate and Methods Thereof.
JC442382 - Sequence 21 from Patent EP2683242.
MA353527 - JP 2018076332-A/21: Effective Amounts of (3aR)-1,3a,8-Trimethyl-1,2,3,3a,8,8a-hexahydropyrrolo[2,3 b]indol-5-yl Phenylcarbamate and Methods Thereof.
AK312276 - Homo sapiens cDNA, FLJ92574, highly similar to Homo sapiens prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) (PRNP), mRNA.
AK295943 - Homo sapiens cDNA FLJ52548 complete cds, highly similar to Major prion protein precursor.
AK293312 - Homo sapiens cDNA FLJ52533 complete cds, highly similar to Major prion protein precursor.
AK295415 - Homo sapiens cDNA FLJ52543 complete cds, highly similar to Major prion protein precursor.
AK090575 - Homo sapiens cDNA FLJ33256 fis, clone ASTRO2005557, highly similar to MAJOR PRION PROTEIN PRECURSOR.
AX746518 - Sequence 43 from Patent EP1308459.
BC022532 - Homo sapiens prion protein, mRNA (cDNA clone MGC:26679 IMAGE:4813982), complete cds.
BC012844 - Homo sapiens prion protein, mRNA (cDNA clone MGC:8899 IMAGE:3863784), complete cds.
M13899 - Human prion protein (PrP) mRNA, complete cds.
AY008282 - Homo sapiens prion protein (PRNP) mRNA, complete cds.
JA482305 - Sequence 288 from Patent WO2011072091.
JE980597 - Sequence 288 from Patent EP2862929.
DD216173 - SiRNA Molecule for Suppressing Expression of Prion Gene.
AB300823 - Homo sapiens PRNP mRNA for prion, complete cds, polymorphism: PrP 129M.
AB300824 - Homo sapiens PRNP mRNA for prion, complete cds, polymorphism: PrP 129V.
AB300825 - Homo sapiens PRNP mRNA for alternatively spliced variant form of prion, complete cds, polymorphism: PrPSV 129M.
AB300826 - Homo sapiens PRNP mRNA for alternatively spliced variant form of prion, complete cds, polymorphism: PrPSV 129V.
AB464066 - Synthetic construct DNA, clone: pF1KB3483, Homo sapiens PRNP gene for prion protein, without stop codon, in Flexi system.
CR542072 - Homo sapiens full open reading frame cDNA clone RZPDo834H0736D for gene PRNP, prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia); complete cds, without stopcodon.
BT019496 - Homo sapiens prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) mRNA, complete cds.
DQ891318 - Synthetic construct clone IMAGE:100003948; FLH171045.01X; RZPDo839E06100D prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) (PRNP) gene, encodes complete protein.
DQ894502 - Synthetic construct Homo sapiens clone IMAGE:100008962; FLH171041.01L; RZPDo839E0699D prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) (PRNP) gene, encodes complete protein.
KJ905871 - Synthetic construct Homo sapiens clone ccsbBroadEn_15541 PRNP gene, encodes complete protein.
CU680410 - Synthetic construct Homo sapiens gateway clone IMAGE:100016899 5' read PRNP mRNA.
CU692680 - Synthetic construct Homo sapiens gateway clone IMAGE:100016898 5' read PRNP mRNA.
KJ897383 - Synthetic construct Homo sapiens clone ccsbBroadEn_06777 PRNP gene, encodes complete protein.
KR709387 - Synthetic construct Homo sapiens clone CCSBHm_00001685 PRNP (PRNP) mRNA, encodes complete protein.
KR709388 - Synthetic construct Homo sapiens clone CCSBHm_00001692 PRNP (PRNP) mRNA, encodes complete protein.
KR709389 - Synthetic construct Homo sapiens clone CCSBHm_00001710 PRNP (PRNP) mRNA, encodes complete protein.
AY569456 - Homo sapiens prion protein (PRNP) mRNA, complete cds.
CR542039 - Homo sapiens full open reading frame cDNA clone RZPDo834B0236D for gene PRNP, prion protein (p27-30) (Creutzfeld-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia); complete cds, incl. stopcodon.
M13667 - Human prion protein 27-30 mRNA, complete cds.
D00015 - Homo sapiens mRNA for prion protein, complete cds.
LF349608 - JP 2014500723-A/157111: Polycomb-Associated Non-Coding RNAs.
LF349609 - JP 2014500723-A/157112: Polycomb-Associated Non-Coding RNAs.
LF349610 - JP 2014500723-A/157113: Polycomb-Associated Non-Coding RNAs.
LF349611 - JP 2014500723-A/157114: Polycomb-Associated Non-Coding RNAs.
JD078845 - Sequence 59869 from Patent EP1572962.
BC016809 - Homo sapiens prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia), mRNA (cDNA clone IMAGE:4078124).
LF349612 - JP 2014500723-A/157115: Polycomb-Associated Non-Coding RNAs.
JD432228 - Sequence 413252 from Patent EP1572962.
JD491665 - Sequence 472689 from Patent EP1572962.
LF349613 - JP 2014500723-A/157116: Polycomb-Associated Non-Coding RNAs.
JD129921 - Sequence 110945 from Patent EP1572962.
JD455371 - Sequence 436395 from Patent EP1572962.
JD501254 - Sequence 482278 from Patent EP1572962.
JD236666 - Sequence 217690 from Patent EP1572962.
JD508711 - Sequence 489735 from Patent EP1572962.
JD296836 - Sequence 277860 from Patent EP1572962.
JD356024 - Sequence 337048 from Patent EP1572962.
JD244992 - Sequence 226016 from Patent EP1572962.
JD096813 - Sequence 77837 from Patent EP1572962.
LF349614 - JP 2014500723-A/157117: Polycomb-Associated Non-Coding RNAs.
JD195407 - Sequence 176431 from Patent EP1572962.
JD487227 - Sequence 468251 from Patent EP1572962.
JD042297 - Sequence 23321 from Patent EP1572962.
LF349615 - JP 2014500723-A/157118: Polycomb-Associated Non-Coding RNAs.
JD305818 - Sequence 286842 from Patent EP1572962.
JD330386 - Sequence 311410 from Patent EP1572962.
JD082090 - Sequence 63114 from Patent EP1572962.
MA619317 - JP 2018138019-A/191243: Polycomb-Associated Non-Coding RNAs.
MA585185 - JP 2018138019-A/157111: Polycomb-Associated Non-Coding RNAs.
MA585186 - JP 2018138019-A/157112: Polycomb-Associated Non-Coding RNAs.
MA585187 - JP 2018138019-A/157113: Polycomb-Associated Non-Coding RNAs.
MA585188 - JP 2018138019-A/157114: Polycomb-Associated Non-Coding RNAs.
MA585189 - JP 2018138019-A/157115: Polycomb-Associated Non-Coding RNAs.
MA585190 - JP 2018138019-A/157116: Polycomb-Associated Non-Coding RNAs.
MA585191 - JP 2018138019-A/157117: Polycomb-Associated Non-Coding RNAs.
MA585192 - JP 2018138019-A/157118: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_prionPathway - Prion Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000379440.1, ENST00000379440.2, ENST00000379440.3, ENST00000379440.4, ENST00000379440.5, ENST00000379440.6, ENST00000379440.7, ENST00000379440.8, hCG_1785425 , NM_183079, PRNP , Q53YK7, Q53YK7_HUMAN, uc318oyz.1, uc318oyz.2
UCSC ID: ENST00000379440.9_5
RefSeq Accession: NM_000311.5
Protein: Q53YK7

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PRNP:
prion (Genetic Prion Disease)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.