| URN | urn:agi-llid:5621 |
|---|---|
| Total Entities | 0 |
| Connectivity | 1828 |
| Name | Prnp |
| Description | prion protein |
| Notes | 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, Oct 2012] |
| GO Molecular Function | chaperone binding |
|---|---|
| ATP-dependent protein binding | |
| microtubule binding | |
| tubulin binding | |
| metal ion binding | |
| copper ion binding |
| GO Cellular Component | membrane |
|---|---|
| membrane raft | |
| integral component of membrane | |
| anchored component of membrane | |
| extrinsic component of membrane | |
| anchored component of plasma membrane | |
| mitochondrial outer membrane | |
| nucleolus | |
| cell surface | |
| plasma membrane | |
| cytoplasm | |
| Golgi apparatus | |
| endoplasmic reticulum | |
| intracellular membrane-bounded organelle | |
| nucleus |
| GO Biological Process | metabolic process |
|---|---|
| negative regulation of T cell receptor signaling pathway | |
| negative regulation of activated T cell proliferation | |
| negative regulation of interleukin-17 production | |
| negative regulation of interferon-gamma production | |
| negative regulation of interleukin-2 production | |
| learning or memory | |
| axon guidance | |
| cell cycle arrest | |
| negative regulation of calcineurin-NFAT signaling cascade | |
| cellular copper ion homeostasis | |
| negative regulation of apoptotic process | |
| response to cadmium ion | |
| response to copper ion | |
| response to oxidative stress | |
| negative regulation of protein phosphorylation | |
| negative regulation of sequence-specific DNA binding transcription factor activity | |
| regulation of protein localization | |
| nucleobase-containing compound metabolic process | |
| protein homooligomerization |
| Pathway | Proteins Involved in Pathogenesis of Alzheimer's Disease |
|---|---|
| Proteins Involved in Pathogenesis of Cystic Fibrosis | |
| Proteins Involved in Pathogenesis of Epilepsy | |
| BDNF Expression Targets | |
| NGF/AP-1/TP53/MYC Expression Targets | |
| NGF/SMAD3/NF-kB Expression Targets | |
| iron homeostasis pathway |
| Group | metabolic process |
|---|---|
| negative regulation of T cell receptor signaling pathway | |
| negative regulation of activated T cell proliferation | |
| negative regulation of interleukin-17 production | |
| negative regulation of interferon-gamma production | |
| negative regulation of interleukin-2 production | |
| learning or memory | |
| axon guidance | |
| cell cycle arrest | |
| negative regulation of calcineurin-NFAT signaling cascade | |
| cellular copper ion homeostasis | |
| negative regulation of apoptotic process | |
| response to cadmium ion | |
| response to copper ion | |
| response to oxidative stress | |
| negative regulation of protein phosphorylation | |
| negative regulation of sequence-specific DNA binding transcription factor activity | |
| regulation of protein localization | |
| nucleobase-containing compound metabolic process | |
| protein homooligomerization | |
| chaperone binding | |
| ATP-dependent protein binding | |
| microtubule binding | |
| tubulin binding | |
| metal ion binding | |
| copper ion binding | |
| membrane | |
| membrane raft | |
| integral component of membrane | |
| anchored component of membrane | |
| extrinsic component of membrane | |
| anchored component of plasma membrane | |
| mitochondrial outer membrane | |
| nucleolus | |
| cell surface | |
| plasma membrane | |
| cytoplasm | |
| Golgi apparatus | |
| endoplasmic reticulum | |
| intracellular membrane-bounded organelle | |
| nucleus | |
| Secreted proteins | |
| Biofluids assayable substances |
| LocusLink ID | 5621 |
|---|---|
| 19122 | |
| 24686 |
| Cell Localization | Cell membrane |
|---|---|
| Golgi apparatus | |
| Cytoplasm | |
| Nucleus | |
| Mitochondrion outer membrane |
| GO ID | 0043008 |
|---|---|
| 0051087 | |
| 0005507 | |
| 0008017 | |
| 0015631 | |
| 0007411 | |
| 0007050 | |
| 0006878 | |
| 0007611 | |
| 0008152 | |
| 0050860 | |
| 0046007 | |
| 0043066 | |
| 0070885 | |
| 0032689 | |
| 0032700 | |
| 0032703 | |
| 0001933 | |
| 0043433 | |
| 0051260 | |
| 0046686 | |
| 0046688 | |
| 0006979 | |
| 0005794 | |
| 0031225 | |
| 0005737 | |
| 0005783 | |
| 0019898 | |
| 0016021 | |
| 0043231 | |
| 0045121 | |
| 0005741 | |
| 0005730 | |
| 0005634 | |
| 0005886 | |
| 0046872 | |
| 0006139 | |
| 0032880 | |
| 0016020 | |
| 0046658 | |
| 0009986 |
| Alias | CJD |
|---|---|
| GSS | |
| PrP | |
| ASCR | |
| KURU | |
| PRIP | |
| PrPc | |
| CD230 | |
| AltPrP | |
| p27-30 | |
| PrP27-30 | |
| PrP33-35C | |
| RP5-1068H6.2 | |
| major prion protein | |
| CD230 antigen | |
| prion-related protein | |
| Sinc | |
| PrPSc | |
| Prn-i | |
| Prn-p | |
| PrP<C> | |
| AA960666 | |
| AI325101 | |
| RP23-401J24.1 | |
| Prn | |
| prion protein, PrP | |
| prion protein, structural | |
| Sinc gene | |
| rPrP | |
| structural Prion | |
| PrP(Sc) | |
| prion protein c | |
| prion protein sc | |
| prpsc proteins | |
| Huntington disease-like neurodegenerative disorder protein | |
| PrP(C) | |
| major prion | |
| Creutzfeld-Jakob disease gene | |
| prion protein | |
| prion protein gene | |
| Prnp | |
| prpc proteins | |
| CJD gene | |
| HDL1 | |
| HDLD | |
| HLN I | |
| HLN1 | |
| LOC113758 | |
| LOC115483 | |
| LOC92508 | |
| LOC96713 | |
| MGC26679 | |
| OTTHUMP00000030162 | |
| OTTHUMP00000030163 | |
| OTTHUMP00000161139 | |
| OTTMUSP00000015760 | |
| Prion protein (p27-30) | |
| prion protein PRIP | |
| prion protein PrP | |
| OTTHUMP00000030161 |
| Mouse chromosome position | 2 64.07 cM |
|---|
| OMIM ID | 176640 |
|---|---|
| 600072 | |
| 137440 | |
| 603218 | |
| 123400 | |
| 245300 | |
| 606688 |
| Rat chromosome position | 3q36 |
|---|
| Hugo ID | 9449 |
|---|
| Human chromosome position | 20p13 |
|---|
| Swiss-Prot Accession | P04156 |
|---|---|
| Q53YK7 | |
| F7VJQ1 | |
| B2NI04 | |
| P04925 | |
| Q4FJQ7 | |
| Q3UG89 | |
| P13852 | |
| Q549H6 | |
| O60489 | |
| P78446 | |
| Q15216 | |
| Q15221 | |
| Q27H91 | |
| Q5QPB4 | |
| Q8TBG0 | |
| Q96E70 | |
| Q9UP19 |
| PIR ID | A53892 |
|---|---|
| A24173 | |
| A29669 |
| Unigene ID | Hs.472010 |
|---|---|
| Hs.610285 | |
| Hs.721670 | |
| Mm.648 | |
| Rn.3936 |
| KEGG ID | hsa:5621 |
|---|---|
| mmu:19122 | |
| rno:24686 |
| Swiss-Prot ID | PRIO_RAT |
|---|---|
| PRIO_HUMAN | |
| APRIO_HUMAN | |
| PRIO_MOUSE |
| Ensembl ID | ENSG00000171867 |
|---|---|
| ENSP00000368752 | |
| ENST00000379440 | |
| ENSP00000399376 | |
| ENST00000430350 | |
| ENSMUSG00000079037 | |
| ENSMUSP00000088833 | |
| ENSMUST00000091288 | |
| ENSRNOG00000021259 | |
| ENSRNOP00000028881 | |
| ENSRNOT00000028881 |
| Homologene ID | 7904 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 97769 |
|---|
| RGD ID | 3410 |
|---|
| MedScan ID | 5621 |
|---|