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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
CD markers Disease related genes Human disease related genes Plasma proteins Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
20
Cytoband
p13
Chromosome location (bp)
4686350 - 4701590
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Prion
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell cycle, Growth arrest
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Copper, Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q53YK7 [Target identity:100%; Query identity:100%] Major prion protein
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CD markers Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001540[amyloid-beta binding] GO:0001933[negative regulation of protein phosphorylation] GO:0002020[protease binding] GO:0005507[copper ion binding] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005521[lamin binding] GO:0005539[glycosaminoglycan binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006878[cellular copper ion homeostasis] GO:0006979[response to oxidative stress] GO:0007049[cell cycle] GO:0007611[learning or memory] GO:0007616[long-term memory] GO:0008017[microtubule binding] GO:0009897[external side of plasma membrane] GO:0009986[cell surface] GO:0010942[positive regulation of cell death] GO:0010955[negative regulation of protein processing] GO:0014069[postsynaptic density] GO:0015631[tubulin binding] GO:0016020[membrane] GO:0016234[inclusion body] GO:0019828[aspartic-type endopeptidase inhibitor activity] GO:0019898[extrinsic component of membrane] GO:0030425[dendrite] GO:0031648[protein destabilization] GO:0031802[type 5 metabotropic glutamate receptor binding] GO:0031965[nuclear membrane] GO:0032147[activation of protein kinase activity] GO:0032689[negative regulation of interferon-gamma production] GO:0032700[negative regulation of interleukin-17 production] GO:0032703[negative regulation of interleukin-2 production] GO:0032880[regulation of protein localization] GO:0035584[calcium-mediated signaling using intracellular calcium source] GO:0038023[signaling receptor activity] GO:0042802[identical protein binding] GO:0043008[ATP-dependent protein binding] GO:0043066[negative regulation of apoptotic process] GO:0043086[negative regulation of catalytic activity] GO:0043195[terminal bouton] GO:0043231[intracellular membrane-bounded organelle] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043525[positive regulation of neuron apoptotic process] GO:0044325[transmembrane transporter binding] GO:0044877[protein-containing complex binding] GO:0045121[membrane raft] GO:0046007[negative regulation of activated T cell proliferation] GO:0046686[response to cadmium ion] GO:0046688[response to copper ion] GO:0046872[metal ion binding] GO:0050730[regulation of peptidyl-tyrosine phosphorylation] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0050860[negative regulation of T cell receptor signaling pathway] GO:0051087[chaperone binding] GO:0051260[protein homooligomerization] GO:0051726[regulation of cell cycle] GO:0060090[molecular adaptor activity] GO:0061098[positive regulation of protein tyrosine kinase activity] GO:0070062[extracellular exosome] GO:0070885[negative regulation of calcineurin-NFAT signaling cascade] GO:0071280[cellular response to copper ion] GO:0071466[cellular response to xenobiotic stimulus] GO:0090314[positive regulation of protein targeting to membrane] GO:0097062[dendritic spine maintenance] GO:0098794[postsynapse] GO:0140311[protein sequestering activity] GO:0140677[molecular function activator activity] GO:0140693[molecular condensate scaffold activity] GO:1900272[negative regulation of long-term synaptic potentiation] GO:1900449[regulation of glutamate receptor signaling pathway] GO:1901216[positive regulation of neuron death] GO:1901379[regulation of potassium ion transmembrane transport] GO:1902430[negative regulation of amyloid-beta formation] GO:1902938[regulation of intracellular calcium activated chloride channel activity] GO:1902951[negative regulation of dendritic spine maintenance] GO:1902992[negative regulation of amyloid precursor protein catabolic process] GO:1903078[positive regulation of protein localization to plasma membrane] GO:1903135[cupric ion binding] GO:1903136[cuprous ion binding] GO:1904645[response to amyloid-beta] GO:1904646[cellular response to amyloid-beta] GO:1905664[regulation of calcium ion import across plasma membrane] GO:1990535[neuron projection maintenance]
X6RKS3 [Direct mapping] Major prion protein Q53YK7 [Target identity:100%; Query identity:100%] Major prion protein
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CD markers Transporters Transporter channels and pores Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001540[amyloid-beta binding] GO:0001933[negative regulation of protein phosphorylation] GO:0002020[protease binding] GO:0005507[copper ion binding] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005539[glycosaminoglycan binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006878[cellular copper ion homeostasis] GO:0006979[response to oxidative stress] GO:0007049[cell cycle] GO:0007611[learning or memory] GO:0007616[long-term memory] GO:0008017[microtubule binding] GO:0009897[external side of plasma membrane] GO:0009986[cell surface] GO:0010955[negative regulation of protein processing] GO:0014069[postsynaptic density] GO:0015631[tubulin binding] GO:0016020[membrane] GO:0016234[inclusion body] GO:0019828[aspartic-type endopeptidase inhibitor activity] GO:0019898[extrinsic component of membrane] GO:0030425[dendrite] GO:0031648[protein destabilization] GO:0031802[type 5 metabotropic glutamate receptor binding] GO:0031965[nuclear membrane] GO:0032689[negative regulation of interferon-gamma production] GO:0032700[negative regulation of interleukin-17 production] GO:0032703[negative regulation of interleukin-2 production] GO:0035584[calcium-mediated signaling using intracellular calcium source] GO:0038023[signaling receptor activity] GO:0042802[identical protein binding] GO:0043231[intracellular membrane-bounded organelle] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043525[positive regulation of neuron apoptotic process] GO:0044877[protein-containing complex binding] GO:0045121[membrane raft] GO:0046007[negative regulation of activated T cell proliferation] GO:0046872[metal ion binding] GO:0050730[regulation of peptidyl-tyrosine phosphorylation] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0050860[negative regulation of T cell receptor signaling pathway] GO:0051260[protein homooligomerization] GO:0051726[regulation of cell cycle] GO:0060090[molecular adaptor activity] GO:0061098[positive regulation of protein tyrosine kinase activity] GO:0070062[extracellular exosome] GO:0070885[negative regulation of calcineurin-NFAT signaling cascade] GO:0071280[cellular response to copper ion] GO:0090314[positive regulation of protein targeting to membrane] GO:0097062[dendritic spine maintenance] GO:0098794[postsynapse] GO:0140693[molecular condensate scaffold activity] GO:1900449[regulation of glutamate receptor signaling pathway] GO:1901216[positive regulation of neuron death] GO:1902430[negative regulation of amyloid-beta formation] GO:1902938[regulation of intracellular calcium activated chloride channel activity] GO:1902951[negative regulation of dendritic spine maintenance] GO:1902992[negative regulation of amyloid precursor protein catabolic process] GO:1903136[cuprous ion binding] GO:1904645[response to amyloid-beta] GO:1904646[cellular response to amyloid-beta] GO:1905664[regulation of calcium ion import across plasma membrane] GO:1990535[neuron projection maintenance]
The Human Protein Atlas project is funded
