PRNP Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PRNP |
| Official Name | prion protein [Source:HGNC Symbol;Acc:HGNC:9449] |
| Ensembl ID | ENSG00000171867 |
| Bio databases IDs | |
| Aliases | prion protein, Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia, p27-30 |
| Synonyms | AltPrP, ASCR, CD230, CJD, GSS, KURU, p27-30, PRION, prion protein, prion protein (Kanno blood group), PRIP, Prn, Prn-i, +Prnp, PrP, PrP27-30, PrP33-35C, PrPC, PRP-RES, PRPTSE, Sinc |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PRNP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G-protein-coupled receptor binding
- protein binding activity, bridging
- signal peptide
- glycosylphosphatidyl inositol anchor peptide signal sequence
- identical protein binding
- Prion/Doppel alpha-helical domain
- copper ion binding
- tubulin binding
- copper binding domain
- ATP-dependent protein binding
- ion channel binding
- chaperone binding
- Serine Proline motif
- mitochondrial presequence
- aspartic protease inhibitor
- signaling receptor activity
- protease binding
- neurotoxic domain
- alpha helix
- metal ion binding
- lamin binding
- protein binding
- receptor binding
- beta-amyloid binding
- glycosaminoglycan binding
- microtubule binding
- Major prion protein bPrPp - N terminal
- binding protein
- transmembrane domain
- glycosaminoglycan attachment site
- KKRPK motif
- octapeptide repeat
- GPI anchor
- Major prion protein
- charged domain
- glycosylphosphatidylinositol anchor sequence
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- infection
- Creutzfeldt-Jakob disease
- metastatic colorectal cancer
- Huntington disease like 1
- neurodegeneration
- gerstmann-straussler-scheinker disease
- spongiform encephalopathy with neuropsychiatric features
- gliosis
- prion disease
role in cell
- expression in
- production in
- proliferation
- survival
- apoptosis
- phosphorylation in
- cell viability
- synthesis in
- function
- function in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- synaptic plasma membrane fractions
- raft fractions
- soluble fraction
- Golgi-enriched fraction
- membrane fraction
- detergent resistant lipid raft fraction
- aggregate
- cell junction
- intracellular membrane-bounded organelle
- intracellular compartment
- extracellular vesicles
- Cytoplasm
- perinuclear Golgi regions
- cell surface
- cell borders
- intracellular space
- perinuclear region
- postsynaptic region
- cellular membrane
- Nucleus
- Golgi Apparatus
- Endoplasmic Reticulum
- Mitochondria
- cell-cell contacts
- cytosol
- membrane ruffles
- outer leaflet
- lateral plasma membrane
- mitochondrial outer membrane
- endosomal compartment
- perinuclear space
- nuclear envelope
- synaptic vesicles
- neurites
- fibrils
- anchoring junction
- Golgi cisternae
- membrane rafts
- cell membrane leading edge
- perikaryon
- axons
- dendrites
- postsynaptic density
- axon terminals
- exosomes
- cell-cell adherens junctions
- plasma
- detergent-soluble fraction
- synaptosomal fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PRNP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of long-term synaptic potentiation
- positive regulation of protein targeting to membrane
- positive regulation of glutamate receptor signaling pathway
- cellular response to copper ion
- positive regulation of neuron apoptotic process
- learning or memory
- positive regulation of calcium-mediated signaling
- regulation of peptidyl-tyrosine phosphorylation
- response to oxidative stress
- negative regulation of interleukin-2 production
- cellular copper ion homeostasis
- negative regulation of protein processing
- negative regulation of calcineurin-NFAT signaling cascade
- regulation of cell cycle
- negative regulation of interferon-gamma production
- negative regulation of interleukin-17 production
- positive regulation of peptidyl-tyrosine phosphorylation
- protein homooligomerization
- negative regulation of activated T cell proliferation
- negative regulation of sequence-specific DNA binding transcription factor activity
- response to cadmium ion
- dendritic spine maintenance
- regulation of glutamate receptor signaling pathway
- protein destabilization
- long-term memory
- negative regulation of T cell receptor signaling pathway
- negative regulation of apoptotic process
- negative regulation of protein phosphorylation
- cellular response to xenobiotic stimulus
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- external side of plasma membrane
- Golgi apparatus
- endoplasmic reticulum
- mitochondrial outer membrane
- plasma membrane
- cell surface
- dendrite
- nuclear membrane
- extracellular vesicular exosome
- cytoplasm
- terminal button
- intracellular membrane-bounded organelle
- membrane raft
- cytosol
- inclusion body
- extrinsic to membrane
Molecular Function
What the gene product does at the molecular level
- tubulin binding
- identical protein binding
- aspartic-type endopeptidase inhibitor activity
- signaling receptor activity
- protease binding
- lamin binding
- ion channel binding
- ATP-dependent protein binding
- beta-amyloid binding
- microtubule binding
- type 5 metabotropic glutamate receptor binding
- protein binding
- copper ion binding
- glycosaminoglycan binding
- chaperone binding
- type 8 metabotropic glutamate receptor binding
- binding, bridging