Version: 8.0.0Date: Tue Jan 28 2025
Gene
PRNP
- Species
- Homo sapiens
- Symbol
- PRNP
- Name
- prion protein (Kanno blood group)
- Synonyms
- alternative prion protein
- AltPrP
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including amyloid-beta binding activity; cuprous ion binding activity; and molecular condensate scaffold activity. Involved in several processes, including cellular response to amyloid-beta; positive regulation of signal transduction; and protein destabilization. Acts upstream of or within cellular response to copper ion. Located in several cellular components, including membrane raft; mitochondrial outer membrane; and nuclear membrane. Is active in dendrite. Implicated in Creutzfeldt-Jakob disease; Gerstmann-Straussler-Scheinker syndrome; Huntington's disease-like 1; fatal familial insomnia; and kuru.
- RGD 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, Nov 2014]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR15506
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr20:4686350...4701590 + (15.24 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.