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 |
|---|---|---|---|---|---|
Nameprion protein OMIM IDMIM:176640 Ensembl IDEnsembl:ENSG00000171867 HGNC IDHGNC:HGNC:9449 PHARMGKB IDPA33796 Map Location20p13 | |||||
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 |
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) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PRNP
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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