|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:PRP
CD230
PrPSc
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Kuru
gptkb:Creutzfeldt-Jakob_disease
gptkb:Bovine_spongiform_encephalopathy
gptkb:Gerstmann-Sträussler-Scheinker_syndrome
gptkb:Fatal_familial_insomnia
gptkb:Scrapie
|
|
gptkbp:biologicalProcess
|
unknown, possibly neuroprotection
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for prion diseases
|
|
gptkbp:discoveredBy
|
gptkb:Stanley_B._Prusiner
|
|
gptkbp:encodes
|
gptkb:prion_protein
|
|
gptkbp:Entrez_Gene_ID
|
5621
ENSG00000171867
|
|
gptkbp:expressedIn
|
brain
lymphoid tissue
|
|
gptkbp:firstDescribed
|
1985
|
|
gptkbp:fullName
|
prion protein gene
|
|
gptkbp:function
|
encodes prion protein involved in neurodegenerative diseases
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
9445
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PRNP gene
|
|
gptkbp:inheritance
|
autosomal dominant (for some mutations)
familial and sporadic forms
|
|
gptkbp:length
|
2 exons
253 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 20
|
|
gptkbp:locusType
|
gptkb:20p13
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
insertion
missense
prion diseases
|
|
gptkbp:OMIM
|
176640
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInCow
|
gptkb:PRNP
|
|
gptkbp:orthologInMouse
|
Prnp
|
|
gptkbp:orthologInSheep
|
gptkb:PRNP
|
|
gptkbp:product
|
PrP
|
|
gptkbp:proteinFamily
|
hydrophobic core
GPI-anchor signal
globular domain
octapeptide repeat region
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:reviewedBy
|
gptkb:GeneReviews
gptkb:OMIM
gptkb:UniProt
|
|
gptkbp:UniProtID
|
gptkb:P04156
|
|
gptkbp:bfsParent
|
gptkb:prion_protein
gptkb:GSS_syndrome
gptkb:M196R
gptkb:PrP_(prion_protein)
gptkb:TSE_protein
|
|
gptkbp:bfsLayer
|
8
|