PRNP (prion protein)

2007-02-01  

Identity

HGNC
LOCATION
20p13
LOCUSID
ALIAS
ASCR,AltPrP,CD230,CJD,GSS,KURU,PRIP,PrP,PrP27-30,PrP33-35C,PrPc,p27-30
FUSION GENES

Other Information

Locus ID:

NCBI: 5621
MIM: 176640
HGNC: 9449
Ensembl: ENSG00000171867

Variants:

dbSNP: 5621
ClinVar: 5621
TCGA: ENSG00000171867
COSMIC: PRNP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171867ENST00000379440P04156
ENSG00000171867ENST00000379440Q53YK7
ENSG00000171867ENST00000424424A2A2V1
ENSG00000171867ENST00000430350P04156
ENSG00000171867ENST00000430350Q53YK7
ENSG00000171867ENST00000457586X6RKS3

Expression (GTEx)

0
100
200
300
400
500
600

Pathways

PathwaySourceExternal ID
Prion diseasesKEGGko05020
Prion diseasesKEGGhsa05020
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
FerroptosisKEGGko04216
FerroptosisKEGGhsa04216

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
171927852007Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.609
248570202014Distinct tau prion strains propagate in cells and mice and define different tauopathies.285
180254692007Molecular architecture of human prion protein amyloid: a parallel, in-register beta-structure.138
215933102011Alzheimer's disease brain-derived amyloid-β-mediated inhibition of LTP in vivo is prevented by immunotargeting cellular prion protein.112
231758382012The complex PrP(c)-Fyn couples human oligomeric Aβ with pathological tau changes in Alzheimer's disease.110
205766102010Interaction between human prion protein and amyloid-beta (Abeta) oligomers: role OF N-terminal residues.109
161871422005Genetic prion disease: the EUROCJD experience.97
126902042003Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics.93
199100282010A genome-wide association study on African-ancestry populations for asthma.87
155395642004Human prion protein with valine 129 prevents expression of variant CJD phenotype.83

Citation

Dessen P

PRNP (prion protein)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/50612/prnp