PRNP Gene - Prion Protein
Key regulator of prion diseases and cellular copper metabolism
Gene Information Card
| Symbol | PRNP |
|---|---|
| Full Name | Prion Protein (PrP) |
| Gene Type | Protein coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 5621 ncbi.nlm.nih.gov/gene/5621 |
| Ensembl ID | ENSG00000171867 |
| UniProt ID | P04156 |
| OMIM ID | 176640 |
| HGNC ID | 9449 |
| Aliases | PrP, PRIP, CJD, GSS, FFI, AltPrP |
Description
The PRNP gene encodes the prion protein (PrP), a cell-surface glycoprotein predominantly expressed in the brain. PrP is involved in copper binding, cellular signaling, and protection against oxidative stress. Misfolding of PrP into a pathogenic isoform (PrPSc) is the hallmark of prion diseases, including Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker syndrome (GSS). Mutations in PRNP can cause inherited prion disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Creutzfeldt-Jakob disease (CJD) | Misfolding of PrP into PrPSc leads to neuronal loss and spongiform degeneration | ClinVar, OMIM |
| Fatal familial insomnia (FFI) | D178N mutation with M129 polymorphism causes selective thalamic degeneration | OMIM, ClinVar |
| Gerstmann-Sträussler-Scheinker syndrome (GSS) | Missense mutations (e.g., P102L) promote PrP aggregation | OMIM, ClinVar |
| Kuru | Acquired prion disease via cannibalism; PRNP codon 129 polymorphism modulates susceptibility | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 48.2 | High |
| Spinal cord | 22.1 | Medium |
| Adrenal gland | 3.5 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| U-87 MG (glioblastoma) | 8.7 | Medium expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| P102L | Missense | Rare | Associated with GSS; promotes PrP aggregation |
| E200K | Missense | Most common in familial CJD | Increases propensity for PrPSc formation |
| D178N | Missense | Rare | Causes FFI (with M129) or familial CJD (with V129) |
| M129V | Polymorphism | Common (allele frequency ~0.4) | Modulates susceptibility to prion diseases |
Mutation functional classification
Loss of Function (LOF)
Not established; PrP knockout mice are viable but show subtle phenotypes.
Gain of Function (GOF)
Mutations (e.g., P102L, E200K) promote misfolding into PrPSc, a toxic gain-of-function.
Dominant Negative (DN)
Not clearly documented; some variants may interfere with wild-type PrP function.
View complete mutation data：
Gene Ontology (GO)
| • copper ion binding (GO:0005507) | • protein kinase activator activity (GO:0030295) |
| • identical protein binding (GO:0042802) | • unfolded protein binding (GO:0051082) |
| • plasma membrane (GO:0005886) | • Golgi apparatus (GO:0005794) |
| • cytoplasm (GO:0005737) |
Pathways
• Prion disease pathway (KEGG: hsa05020)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
The prion protein (PrP) is a 253-amino acid glycoprotein anchored to the cell membrane via a glycosylphosphatidylinositol (GPI) anchor. It contains a flexible N-terminal domain with octapeptide repeats that bind copper, and a globular C-terminal domain with three alpha-helices and two short beta-sheets. PrP is highly expressed in neurons and plays roles in neuroprotection, synaptic transmission, and metal ion homeostasis. Conversion of the normal cellular form (PrPC) to the misfolded scrapie form (PrPSc) is central to prion pathogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRNP Knockout HEK293 Cell Line | EDJ-KQ14896 | Human | 5621 | Details Get a Quote |
| PRNP Knockout A-549 Cell Line | EDJ-KQ18055 | Human | 5621 | Details Get a Quote |
| PRNP Knockout HCT 116 Cell Line | EDJ-KQ45351 | Human | 5621 | Details Get a Quote |
| PRNP Knockout HeLa Cell Line | EDJ-KQ45352 | Human | 5621 | Details Get a Quote |
