PRNP
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| prion protein | MIM:176640 | Ensembl:ENSG00000171867 | HGNC:HGNC:9449 | PA33796 | 20p13 |
GO terms in PRNP
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | ISS | GO:0001933 | negative regulation of protein phosphorylation |
| BP | NAS | GO:0006878 | cellular copper ion homeostasis |
| BP | ISS | GO:0006979 | response to oxidative stress |
| BP | IEA | GO:0007050 | cell cycle arrest |
| BP | ISS | GO:0007611 | learning or memory |
| BP | TAS | GO:0007616 | long-term memory |
| BP | TAS | GO:0010955 | negative regulation of protein processing |
| BP | IMP | GO:0031648 | protein destabilization |
| BP | IEA | GO:0032147 | activation of protein kinase activity |
| BP | ISS | GO:0032689 | negative regulation of interferon-gamma production |
| BP | ISS | GO:0032700 | negative regulation of interleukin-17 production |
| BP | ISS | GO:0032703 | negative regulation of interleukin-2 production |
| BP | IGI | GO:0035584 | calcium-mediated signaling using intracellular calcium source |
| BP | IEA | GO:0035690 | cellular response to drug |
| BP | IEA | GO:0043066 | negative regulation of apoptotic process |
| BP | IEA | GO:0043086 | negative regulation of catalytic activity |
| BP | ISS | GO:0043433 | negative regulation of DNA-binding transcription factor activity |
| BP | IMP | GO:0043525 | positive regulation of neuron apoptotic process |
| BP | ISS | GO:0046007 | negative regulation of activated T cell proliferation |
| BP | IEA | GO:0046686 | response to cadmium ion |
| BP | ISS | GO:0050730 | regulation of peptidyl-tyrosine phosphorylation |
| BP | IDA | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation |
| BP | ISS | GO:0050860 | negative regulation of T cell receptor signaling pathway |
| BP | IMP | GO:0051260 | protein homooligomerization |
| BP | IGI | GO:0061098 | positive regulation of protein tyrosine kinase activity |
| BP | ISS | GO:0070885 | negative regulation of calcineurin-NFAT signaling cascade |
| BP | IDA | GO:0071280 | cellular response to copper ion |
| BP | ISS | GO:0090314 | positive regulation of protein targeting to membrane |
| BP | ISS | GO:0090647 | modulation of age-related behavioral decline |
| BP | TAS | GO:0097062 | dendritic spine maintenance |
| BP | IEA | GO:1900272 | negative regulation of long-term synaptic potentiation |
| BP | ISS | GO:1900449 | regulation of glutamate receptor signaling pathway |
| BP | ISS | GO:1901216 | positive regulation of neuron death |
| BP | IEA | GO:1901379 | regulation of potassium ion transmembrane transport |
| BP | ISS | GO:1902430 | negative regulation of amyloid-beta formation |
| BP | IGI | GO:1902938 | regulation of intracellular calcium activated chloride channel activity |
| BP | ISS | GO:1902951 | negative regulation of dendritic spine maintenance |
| BP | ISS | GO:1902992 | negative regulation of amyloid precursor protein catabolic process |
| BP | IEA | GO:1903078 | positive regulation of protein localization to plasma membrane |
| BP | ISS | GO:1904645 | response to amyloid-beta |
| BP | IGI | GO:1904646 | cellular response to amyloid-beta |
| BP | ISS | GO:1905664 | regulation of calcium ion import across plasma membrane |
| BP | ISS | GO:1990535 | neuron projection maintenance |
| CC | TAS | GO:0005737 | cytoplasm |
| CC | ISS | GO:0005783 | endoplasmic reticulum |
| CC | ISS | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | ISS | GO:0005886 | plasma membrane |
| CC | HDA | GO:0009986 | cell surface |
| CC | IDA | GO:0009986 | cell surface |
| CC | ISS | GO:0014069 | postsynaptic density |
| CC | TAS | GO:0014069 | postsynaptic density |
| CC | IMP | GO:0016234 | inclusion body |
| CC | TAS | GO:0019898 | extrinsic component of membrane |
| CC | IDA | GO:0030425 | dendrite |
| CC | NAS | GO:0031362 | anchored component of external side of plasma membrane |
| CC | IDA | GO:0031965 | nuclear membrane |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| CC | IDA | GO:0045121 | membrane raft |
| CC | IMP | GO:0045121 | membrane raft |
| CC | ISS | GO:0045121 | membrane raft |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | TAS | GO:0098794 | postsynapse |
| MF | IDA | GO:0001540 | amyloid-beta binding |
| MF | IPI | GO:0001540 | amyloid-beta binding |
| MF | ISS | GO:0001540 | amyloid-beta binding |
| MF | TAS | GO:0001540 | amyloid-beta binding |
| MF | ISS | GO:0002020 | protease binding |
| MF | IDA | GO:0005507 | copper ion binding |
| MF | TAS | GO:0005507 | copper ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005521 | lamin binding |
| MF | ISS | GO:0005539 | glycosaminoglycan binding |
| MF | IDA | GO:0008017 | microtubule binding |
| MF | IDA | GO:0015631 | tubulin binding |
| MF | IPI | GO:0031802 | type 5 metabotropic glutamate receptor binding |
| MF | ISS | GO:0031802 | type 5 metabotropic glutamate receptor binding |
| MF | IDA | GO:0031805 | type 8 metabotropic glutamate receptor binding |
| MF | ISS | GO:0038023 | signaling receptor activity |
| MF | IMP | GO:0042802 | identical protein binding |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IEA | GO:0043008 | ATP-dependent protein binding |
| MF | IEA | GO:0044325 | ion channel binding |
| MF | IPI | GO:0044877 | protein-containing complex binding |
| MF | ISS | GO:0044877 | protein-containing complex binding |
| MF | IEA | GO:0051087 | chaperone binding |
| MF | IEA | GO:1903135 | cupric ion binding |
| MF | IMP | GO:1903136 | cuprous ion binding |
Gene expression in normal tissue: PRNP
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PRNP
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-375165 | NCAM signaling for neurite out-growth |
| reactome | R-HSA-419037 | NCAM1 interactions |
| reactome | R-HSA-422475 | Axon guidance |
| biocarta | prionpathway | prion pathway |
| kegg | hsa04216 | Ferroptosis - Homo sapiens (human) |
| kegg | hsa05020 | Prion diseases - Homo sapiens (human) |
| pid | glypican_1pathway | Glypican 1 network |
| wikipathways | WP2806 | Human Complement System |
| wikipathways | WP3286 | Copper homeostasis |
| wikipathways | WP3995 | Prion disease pathway |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PRNP
CLASSFICATION
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