Gene: PRNP (prion protein)  Homo sapiens

Symbol: PRNP
Name: prion protein
Description: The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alternative prion protein; major prion protein; AltPrP; ASCR; CD230; CD230 antigen; CJD; GSS; KURU; major prion protein; MGC26679; OTTHUMP00000030161; OTTHUMP00000030162; OTTHUMP00000030163; OTTHUMP00000161139; p27-30; p27-30; prion; prion protein; prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia); prion protein PrP; prion-related protein; PRIP; PrP; PrP27-30; PrP33-35C; PrPc
Orthologs: Mus musculus : Prnp (prion protein)  MGI
Rattus norvegicus : Prnp (prion protein)
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_1204,613,933 - 4,629,372+NCBI
Human Genome Assembly HuRef204,620,194 - 4,635,632+NCBI
Human Genome Assembly GRCh37204,666,797 - 4,682,234+NCBI
Human Genome Assembly Build 36204,614,797 - 4,630,234+NCBI
Human Cytogenetic Map20p13 NCBI
Human Genome Assembly204,615,068 - 4,630,233 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
Nomenclature History
 
More on PRNP
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 737306
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2013-04-23
Status: ACTIVE