Gene Symbol |
PRNP
|
Entrez Gene |
5621
|
Alt Symbol |
ASCR, AltPrP, CD230, CJD, GSS, KURU, PRIP, PrP, PrP27-30, PrP33-35C, PrPc, p27-30
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
prion protein
|
Other Description |
CD230 antigen|major prion protein|prion-related protein
|
Swissprots |
Q96E70 Q9UP19 Q8TBG0 P78446 F7VJQ1 Q15221 O60489 Q15216 Q27H91 Q5QPB4 P04156
|
Accessions |
AAB20521 AAB20522 AAB20523 AAB21334 AAB35416 AAB50648 AAB50649 AAB50777 AAB59442 AAB59443 AAC05365 AAC62750 AAC78725 AAD15012 AAD46098 AAO83635 AAO83636 AAR21603 ABD63004 ABL75508 ADD71057 ADO16981 CAA58442 DAA34790 EAX10449 EAX10450 F7VJQ1 P04156 AB300823 BAG32276 AB300824 BAG32277 AB300825 BAG32278 AB300826 BAG32279 AK090575 BAG52189 AK293312 BAG56832 AK295415 BAG58365 AK295943 BAG58727 AK312276 BAG35206 AW452130 AY008282 AAG21693 AY569456 AAS80162 BC012844 AAH12844 BC016809 BC022532 AAH22532 BG397054 BI669189 BP251427 BT019496 AAV38303 CR542039 CAG46836 CR542072 CAG46869 D00015 BAA00011 DA122620 DA297032 DB461478 DQ891318 ABM82244 DQ894502 ABM85428 M13667 AAA19664 M13899 AAA60182 X82545 CAA57895 NM_000311 NP_000302 NM_001080121 NP_001073590 NM_001080122 NP_001073591 NM_001080123 NP_001073592 NM_001271561 NP_001258490 NM_183079 NP_898902
|
Function |
May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May play a role in iron uptake and iron homeostasis. Soluble oligomers are toxic to cultured neuroblastoma cells and induce apoptosis (in vitro). Association with GPC1 (via its heparan sulfate chains) targets PRNP to lipid rafts. Also provides Cu(2+) or ZN(2+) for the ascorbate-mediated GPC1 deaminase degradation of its heparan sulfate side chains (By similarity). {ECO:0000250}.
|
Subcellular Location |
Cell membrane; Lipid-anchor, GPI-anchor. Golgi apparatus. Note=Targeted to lipid rafts via association with the heparan sulfate chains of GPC1. Colocates, in the presence of CU(2+), to vesicles in para- and perinuclear regions, where both proteins undergo internalization. Heparin displaces PRNP from lipid rafts and promotes endocytosis.
|
Tissue Specificity |
Detected in brain homogenate, primary neurons, and peripheral blood mononuclear cells (at protein level). {ECO:0000269|PubMed:21478263}.
|
Top Pathways |
Prion diseases
|