|
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
|
gptkb:lymphoid_tissue
brain
|
|
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
|
|
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
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PRNP
|