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P04156 Proteins with OtherRepeats Repeats
Uniprot ID: P04156
Protein name : Major prion protein
Gene : PRNP ALTPRP PRIP PRP
Protein Families : Prion family
Squence Length : 253
Sequence
>P04156 254 MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQVYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPVILLISFLIFLIVG
Repeat regions
REPEAT 51 59 1 REPEAT 60 67 2 REPEAT 68 75 3 REPEAT 76 83 4 REPEAT 84 91 5
Sequence region of repeats
51- 59 GGGGWGQPH 60- 67 GGGWGQPH 68- 75 GGGWGQPH 76- 83 GGGWGQPH 84- 91 GGGWGQGG
Function
Its primary physiological function is unclear. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May promote myelin homeostasis through acting as an agonist for ADGRG6 receptor. May play a role in iron uptake and iron homeostasis. Soluble oligomers are toxic to cultured neuroblastoma cells and induce apoptosis (in vitro) (By similarity). 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)
Mutation
1 1 M->S: Protein detected when associated with S-8 8 8 M->S: No protein detected when associated with S-1
Disease
"DISEASE: Note=PrP is found in high quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (FFI), Gerstmann-Straussler disease (GSD), Huntington disease-like type 1 (HDL1) and kuru in humans; scrapie in sheep and goat; bovine spongiform encephalopathy (BSE) in cattle; transmissible mink encephalopathy (TME); chronic wasting disease (CWD) of mule deer and elk; feline spongiform encephalopathy (FSE) in cats and exotic ungulate encephalopathy (EUE) in nyala and greater kudu The prion diseases illustrate three manifestations of CNS degeneration: (1) infectious (2) sporadic and (3) dominantly inherited forms TME, CWD, BSE, FSE, EUE are all thought to occur after consumption of prion-infected foodstuffs ; DISEASE: Creutzfeldt-Jakob disease (CJD) [MIM:123400]: Occurs primarily as a sporadic disorder (1 per million), while 10-15% are familial Accidental transmission of CJD to humans appears to be iatrogenic (contaminated human growth hormone (HGH), corneal transplantation, electroencephalographic electrode implantation, etc ) Epidemiologic studies have failed to implicate the ingestion of infected animal meat in the pathogenesis of CJD in human The triad of microscopic features that characterize the prion diseases consists of (1) spongiform degeneration of neurons, (2) severe astrocytic gliosis that often appears to be out of proportion to the degree of nerve cell loss, and (3) amyloid plaque formation CJD is characterized by progressive dementia and myoclonic seizures, affecting adults in mid-life Some patients present sleep disorders, abnormalities of high cortical function, cerebellar and corticospinal disturbances The disease ends in death after a 3-12 months illness Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Fatal familial insomnia (FFI) [MIM:600072]: Autosomal dominant disorder and is characterized by neuronal degeneration limited to selected thalamic nuclei and progressive insomnia Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Gerstmann-Straussler disease (GSD) [MIM:137440]: A rare inherited prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain GSD presents with progressive limb and truncal ataxia, dysarthria, and cognitive decline in the thirties and forties, and the average disease duration is 7 years Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Huntington disease-like 1 (HDL1) [MIM:603218]: Autosomal dominant, early-onset neurodegenerative disorder with prominent psychiatric features Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Kuru (KURU) [MIM:245300]: Kuru is transmitted during ritualistic cannibalism, among natives of the New Guinea highlands Patients exhibit various movement disorders like cerebellar abnormalities, rigidity of the limbs, and clonus Emotional lability is present, and dementia is conspicuously absent Death usually occurs from 3 to 12 month after onset Note=Disease susceptibility is associated with variations affecting the gene represented in this entry ; DISEASE: Spongiform encephalopathy with neuropsychiatric features (SENF) [MIM:606688]: Autosomal dominant presenile dementia with a rapidly progressive and protracted clinical course The dementia was characterized clinically by frontotemporal features, including early personality changes Some patients had memory loss, several showed aggressiveness, hyperorality and verbal stereotypy, others had parkinsonian symptoms Note=The disease is caused by mutations affecting the gene represented in this entry"