Statements (68)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:PRP
CD230 Major prion protein |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Kuru
gptkb:Creutzfeldt-Jakob_disease gptkb:Gerstmann-Sträussler-Scheinker_syndrome gptkb:variant_Creutzfeldt-Jakob_disease gptkb:Fatal_familial_insomnia gptkb:sporadic_fatal_insomnia Prion diseases Alpers syndrome bovine spongiform encephalopathy (BSE) chronic wasting disease (CWD) familial Creutzfeldt-Jakob disease iatrogenic Creutzfeldt-Jakob disease scrapie (in sheep) transmissible spongiform encephalopathies (TSEs) variant Gerstmann-Sträussler-Scheinker syndrome |
| gptkbp:discoveredBy |
gptkb:Stanley_B._Prusiner
|
| gptkbp:encodes |
gptkb:prion_protein
|
| gptkbp:Entrez_Gene_ID |
ENSG00000171867
|
| gptkbp:expressedIn |
brain
lymphoid tissue |
| gptkbp:firstDescribed |
1985
|
| gptkbp:fullName |
prion protein gene
|
| gptkbp:function |
synaptic transmission
neuroprotection cellular signaling copper binding |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
9445
|
| https://www.w3.org/2000/01/rdf-schema#label |
PRNP
|
| gptkbp:inheritance |
acquired
autosomal dominant sporadic |
| gptkbp:length |
16,659 bp (genomic)
253 amino acids (canonical isoform) |
| gptkbp:locatedOnChromosome |
gptkb:20p13
20 |
| gptkbp:mutationAssociatedWith |
nonsense
deletion insertion missense neurodegeneration prion disease susceptibility |
| gptkbp:numberOfExons |
2
|
| gptkbp:OMIM |
176640
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInCow |
gptkb:PRNP
|
| gptkbp:orthologInMouse |
Prnp
|
| gptkbp:postTranslationalModification |
glycosylation
disulfide bond formation GPI-anchor addition |
| gptkbp:product |
PrP
alpha-helix rich beta-sheet rich (in disease state) |
| gptkbp:proteinFamily |
GPI-anchor signal
globular domain octapeptide repeat region |
| gptkbp:proteinFunctionGain |
infectious prion propagation
|
| gptkbp:proteinFunctionLoss |
prion disease pathogenesis
|
| gptkbp:RefSeq |
NM_000311
|
| gptkbp:transcriptCount |
multiple
|
| gptkbp:UniProtID |
gptkb:P04156
|
| gptkbp:bfsParent |
gptkb:G127X
|
| gptkbp:bfsLayer |
7
|