PRNP - prion protein Gene
Also Known as CJD; GSS; PrP; ASCR; KURU; PRIP; PrPc; CD230; AltPrP; p27-30; PrP27-30; PrP33-35C
Species: Homo sapiens
About PRNP
This gene has 4 transcripts (splice variants), 118 orthologues and is associated with 13 phenotypes. Ubiquitous expression in brain (RPKM 148.7), ovary (RPKM 52.6) and 24 other tissues.
Summary
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, Nov 2014]
PRNP Products (12)
| mRNA | Protein | Name |
|---|---|---|
| NM_000311.5 | NP_000302.1 | major prion protein preproprotein Prp precursor |
| NM_001080121.3 | NP_001073590.1 | major prion protein preproprotein Prp precursor |
| NM_001080122.3 | NP_001073591.1 | major prion protein preproprotein Prp precursor |
| NM_001080123.3 | NP_001073592.1 | major prion protein preproprotein Prp precursor |
| NM_001271561.3 | NP_001258490.1 | alternative prion protein isoform AltPrp |
| NM_183079.4 | NP_898902.1 | major prion protein preproprotein Prp precursor |
| NM_000311.5 | NP_000302.1 | major prion protein preproprotein Prp precursor |
| NM_001080121.3 | NP_001073590.1 | major prion protein preproprotein Prp precursor |
| NM_001080122.3 | NP_001073591.1 | major prion protein preproprotein Prp precursor |
| NM_001080123.3 | NP_001073592.1 | major prion protein preproprotein Prp precursor |
| NM_001271561.3 | NP_001258490.1 | alternative prion protein isoform AltPrp |
| NM_183079.4 | NP_898902.1 | major prion protein preproprotein Prp precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables amyloid-beta binding |
IDA
IDA: Inferred from direct assay
|
24012003 | GOA |
| enables amyloid-beta binding |
IPI
IPI: Inferred from physical interaction
|
22820466 | GOA |
| enables copper ion binding |
IDA
IDA: Inferred from direct assay
|
11900542 | GOA |
| enables cuprous ion binding |
IMP
IMP: Inferred from mutant phenotype
|
20564047 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
16286452 | GOA |
| enables microtubule binding |
IDA
IDA: Inferred from direct assay
|
16004966 | GOA |
| enables molecular adaptor activity |
IDA
IDA: Inferred from direct assay
|
30401430 | GOA |
| enables molecular condensate scaffold activity |
IDA
IDA: Inferred from direct assay
|
30401430 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16286452 | GOA |
| enables protein-containing complex binding |
IPI
IPI: Inferred from physical interaction
|
23386614 | GOA |
| enables tubulin binding |
IDA
IDA: Inferred from direct assay
|
16004966 | GOA |
| NOT enables type 8 metabotropic glutamate receptor binding |
IDA
IDA: Inferred from direct assay
|
24012003 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cellular response to amyloid-beta |
IGI
IGI: Inferred from genetic interaction
|
24012003 | GOA |
| acts upstream of or within cellular response to copper ion |
IDA
IDA: Inferred from direct assay
|
16254249 | GOA |
| involved in positive regulation of calcium-mediated signaling |
IGI
IGI: Inferred from genetic interaction
|
24012003 | GOA |
| involved in positive regulation of glutamate receptor signaling pathway |
IGI
IGI: Inferred from genetic interaction
|
24012003 | GOA |
| involved in positive regulation of neuron apoptotic process |
IMP
IMP: Inferred from mutant phenotype
|
20564047 | GOA |
| involved in positive regulation of peptidyl-tyrosine phosphorylation |
IDA
IDA: Inferred from direct assay
|
22820466 | GOA |
| involved in protein destabilization |
IMP
IMP: Inferred from mutant phenotype
|
20564047 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
18419754 | GOA |
| is active in dendrite |
IDA
IDA: Inferred from direct assay
|
24012003 | GOA |
| located in inclusion body |
IMP
IMP: Inferred from mutant phenotype
|
20564047 | GOA |
| located in membrane raft |
IDA
IDA: Inferred from direct assay
|
16254249 | GOA |
| located in membrane raft |
IMP
IMP: Inferred from mutant phenotype
|
23386614 | GOA |
| located in mitochondrial outer membrane |
IDA
IDA: Inferred from direct assay
|
21478263 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
16254249 | GOA |
PRNP Protein Structure
Prion_bPrPp: Major prion protein bPrPp - N terminal (1 - 28)
Prion: Prion/Doppel alpha-helical domain (134 - 251)
- 0
- 100
- 200
- 253 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
major prion protein alternative prion protein |
|
|
PRNP Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PRNP | P04156 | MPG | Homo sapiens | P29372 | 18482256 | |
|
Intra
|
PRNP | P04156 | MPG | Homo sapiens | P29372 | 18482256 | |
|
Intra
|
PRNP | P04156 | MPG | Homo sapiens | P29372 | 18482256 | |
|
Intra
|
PRNP | P04156 | AZGP1 | Homo sapiens | P25311 | 28671123 | |
|
Intra
|
PRNP | P04156 | AZGP1 | Homo sapiens | P25311 | 28671123 | |
|
Intra
|
PRNP | P04156 | PIMREG | Homo sapiens | Q9BSJ6 | 18482256 | |
|
Intra
|
PRNP | P04156 | PIMREG | Homo sapiens | Q9BSJ6 | 18482256 | |
|
Intra
|
PRNP | P04156 | APP | Homo sapiens | P05067-4 | 23236467 | |
|
Intra
|
PRNP | P04156 | PRDX1 | Homo sapiens | Q06830 | 28671123 | |
|
Intra
|
PRNP | P04156 | MAPT | Homo sapiens | P10636 | 24028865 | |
|
Intra
|
PRNP | P04156 | F2RL1 | Homo sapiens | P55085 | 28298427 | |
|
Intra
|
PRNP | P04156 | F2RL1 | Homo sapiens | P55085 | 28298427 | |
|
Intra
|
PRNP | P04156 | F2RL1 | Homo sapiens | P55085 | 28298427 | |
|
Intra
|
PRNP | P04156 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
PRNP | P04156 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
PRNP | P04156 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
PRNP | P04156 | AGO1 | Homo sapiens | Q9UL18 | 22484317 | |
|
Intra
|
PRNP | P04156 | AGO1 | Homo sapiens | Q9UL18 | 18482256 | |
|
Intra
|
PRNP | P04156 | AGO2 | Homo sapiens | Q9UKV8 | 22484317 | |
|
Cross
|
PRNP | P04156 | Ago2 | Mus musculus | Q8CJG0 | 22484317 | |
|
Intra
|
PRNP | P04156 | HOXA1 | Homo sapiens | P49639 | 18482256 | |
|
Intra
|
PRNP | P04156 | HOXA1 | Homo sapiens | P49639 | 18482256 | |
|
Intra
|
PRNP | P04156 | FZD7 | Homo sapiens | O75084 | 28298427 | |
|
Intra
|
PRNP | P04156 | FZD7 | Homo sapiens | O75084 | 28298427 | |
|
Intra
|
PRNP | P04156 | FZD7 | Homo sapiens | O75084 | 28298427 | |
|
Intra
|
PRNP | P04156 | PLK3 | Homo sapiens | Q9H4B4 | 18482256 | |
|
Intra
|
PRNP | P04156 | PLK3 | Homo sapiens | Q9H4B4 | 18482256 | |
|
Intra
|
PRNP | P04156 | PLK3 | Homo sapiens | Q9H4B4 | 18482256 | |
|
Cross
|
PRNP | P04156 | Prnp | Mus musculus | P04925 | 22285492 | |
|
Intra
|
PRNP | P04156 | APP | Homo sapiens | P05067 | 24028865 | |
|
Intra
|
PRNP | P04156 | APP | Homo sapiens | P05067 | 32814053 | |
|
Intra
|
PRNP | P04156 | APP | Homo sapiens | P05067 | 32814053 | |
|
Intra
|
PRNP | P04156 | APP | Homo sapiens | P05067 | 16286452 | |
|
Intra
|
PRNP | P04156 | APP | Homo sapiens | P05067 | 32814053 | |
|
Intra
|
PRNP | P04156 | P05067-PRO_0000000092 | Homo sapiens | P05067-PRO_0000000092 | 23907583 | |
|
Intra
|
PRNP | P04156 | P05067-PRO_0000000092 | Homo sapiens | P05067-PRO_0000000092 | 23907583 | |
|
Intra
|
PRNP | P04156 | FHL1 | Homo sapiens | Q13642 | 18482256 | |
|
Intra
|
PRNP | P04156 | FHL1 | Homo sapiens | Q13642 | 28671123 | |
|
Intra
|
PRNP | P04156 | PRNP | Homo sapiens | P04156 | 16286452 | |
|
Intra
|
PRNP | P04156 | PRNP | Homo sapiens | P04156 | 19204296 | |
|
Intra
|
PRNP | P04156 | PRNP | Homo sapiens | P04156 | 19278656 | |
|
Intra
|
PRNP | P04156 | PRNP | Homo sapiens | P04156 | 18436646 | |
|
Intra
|
PRNP | P04156 | PRNP | Homo sapiens | P04156 | 19278656 | |
|
Intra
|
PRNP | P04156 | PRNP | Homo sapiens | P04156 | 16286452 | |
|
Intra
|
PRNP | P04156 | PRNP | Homo sapiens | P04156 | 18025469 | |
|
Intra
|
PRNP | P04156 | PRNP | Homo sapiens | P04156 | 16286452 | |
|
Intra
|
PRNP | P04156 | PRNP | Homo sapiens | P04156 | 19278656 | |
|
Intra
|
PRNP | P04156 | PRNP | Homo sapiens | P04156 | 18436646 | |
|
Intra
|
PRNP | P04156 | PRNP | Homo sapiens | P04156 | 19927125 | |
|
Intra
|
PRNP | P04156 | PRNP | Homo sapiens | P04156 | 18025469 | |
|
Intra
|
PRNP | P04156 | PRNP | Homo sapiens | P04156 | 19278656 | |
|
Intra
|
PRNP | P04156 | PRNP | Homo sapiens | P04156 | 16286452 | |
|
Intra
|
PRNP | P04156 | PRNP | Homo sapiens | P04156 | 19278656 | |
|
Intra
|
PRNP | P04156 | PRNP | Homo sapiens | P04156 | 18436646 | |
|
Cross
|
PRNP | P04156 | PRNP | Bos taurus | P10279 | 21920025 | |
|
Cross
|
PRNP | P04156 | PRNP | Bos taurus | P10279 | 22285492 | |
|
Cross
|
PRNP | P04156 | PRNP | Ovis aries | P23907 | 22285492 |
Recombinant PRNP Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P74619 | PRNP/CD230 Protein, Human (HEK293, Fc, solution) | P04156/NP_000302.1 (K23-G229) | ≥ 90%, as determined by reducing SDS-PAGE. |
PRNP Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81980 | Prion Protein Antibody (YA1725) | WB, IHC-P | Human, Mouse, Rat |
| HY-P81980A | Prion Protein Antibody (YA1725)(PBS only) | WB, IHC-P | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Creutzfeldt-Jakob Disease |
|
|
| Fatal Familial Insomnia |
|
|
| Gerstmann-Straussler Disease |
|
|
| Huntington Disease-Like 1 |
|
|
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
|
| Kuru |
|
|
| Prion Disease |
|
|
| Inherited Human Prion Disease |
|
|
| Familial Alzheimer-Like Prion Disease |
|
|
| Prp Systemic Amyloidosis |
|
|
| Scrapie |
|
|
| Chronic Wasting Disease |
|
|
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
|
| Dementia |
|
|
| Huntington Disease |
|
|
| Encephalopathy |
|
|
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
|
| Amyloidosis |
|
|
| Akinetic Mutism |
|
|
| Aphasia |
|
|
| Wilson Disease |
|
|
| Visual Cortex Disease |
|
|
| Vascular Dementia |
|
|
| Visual Pathway Disease |
|
|
| Dementia, Lewy Body |
|
|
| Dentatorubral-Pallidoluysian Atrophy |
|
|
| Temporal Lobe Epilepsy |
|
|
| Louping Ill |
|
|
| Neuroblastoma |
|
|
| Multiple System Atrophy 1 |
|
|
| Frontotemporal Dementia |
|
|
| Supranuclear Palsy, Progressive, 1 |
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
|
| Agraphia |
|
|
| Ideomotor Apraxia |
|
|
| Spinocerebellar Ataxia 12 |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Gerstmann Syndrome |
|
|
| Writing Disorder |
|
|
| Gait Apraxia |
|
|
| Cortical Blindness |
|
|
| Speech And Communication Disorders |
|
|
| Dystonia 25 |
|
|
| Torsion Dystonia 2 |
|
|
| Alexia |
|
|
| Cerebral Amyloid Angiopathy, Itm2b-Related, 1 |
|
|
| Mutism |
|
|
| Visual Agnosia |
|
|
| Pseudobulbar Palsy |
|
|
| Spinocerebellar Ataxia 45 |
|
|
| Pick Disease Of Brain |
|
|
| Akinetopsia |
|
|
| Toxic Encephalopathy |
|
|
| Myopathy |
|
|
| Cortical Deafness |
|
|
| Epilepsy |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Warburg Micro Syndrome 3 |
|
|
| Warburg Micro Syndrome 2 |
|
|
| Choreatic Disease |
|
|
| Neuromuscular Disease |
|
|
| Cerebellar Disease |
|
|
| Movement Disease |
|
|
| Nervous System Disease |
|
|
| Parkinson Disease, Late-Onset |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | PRNP | VGNC | VGNC:81156 |
| Rattus norvegicus | PRNP | RGD | RGD:3410 |
| Canis familiaris | PRNP | VGNC | VGNC:45004 |
| Bos taurus | PRNP | VGNC | VGNC:33356 |
| Macaca mulatta | PRNP | VGNC | VGNC:76424 |
| Mus musculus | PRNP | MGD | MGI:97769 |
| Others | PRNP | NCBI |