Details for: PRNP
Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 418.2063
Cell Significance Index: -65.0500 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 261.0752
Cell Significance Index: -66.2200 - Cell Name: embryonic stem cell (CL0002322)
Fold Change: 172.7647
Cell Significance Index: -71.1700 - Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 142.7595
Cell Significance Index: -67.4000 - Cell Name: peripheral blood mononuclear cell (CL2000001)
Fold Change: 123.6039
Cell Significance Index: -63.5800 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 56.0523
Cell Significance Index: -69.1100 - Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
Fold Change: 24.6024
Cell Significance Index: -75.5700 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 21.2926
Cell Significance Index: -57.0400 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 17.6987
Cell Significance Index: -69.8400 - Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 11.1145
Cell Significance Index: -24.3300 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 3.1375
Cell Significance Index: 89.9400 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 2.8763
Cell Significance Index: 78.2900 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 2.8387
Cell Significance Index: 38.7300 - Cell Name: odontoblast (CL0000060)
Fold Change: 2.6713
Cell Significance Index: 342.4400 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: 2.3163
Cell Significance Index: 66.1000 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 2.2745
Cell Significance Index: 225.0000 - Cell Name: cone retinal bipolar cell (CL0000752)
Fold Change: 2.2458
Cell Significance Index: 17.3100 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 2.1793
Cell Significance Index: 437.1700 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 2.1643
Cell Significance Index: 776.3100 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: 1.7450
Cell Significance Index: 91.6200 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 1.7155
Cell Significance Index: 199.9200 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 1.5728
Cell Significance Index: 215.9900 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: 1.5152
Cell Significance Index: 101.8800 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 1.5082
Cell Significance Index: 245.2900 - Cell Name: Sertoli cell (CL0000216)
Fold Change: 1.4879
Cell Significance Index: 20.8700 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: 1.1809
Cell Significance Index: 55.5000 - Cell Name: lactocyte (CL0002325)
Fold Change: 1.1134
Cell Significance Index: 143.8400 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 1.0985
Cell Significance Index: 485.6800 - Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: 0.9963
Cell Significance Index: 29.2600 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.8199
Cell Significance Index: 89.1800 - Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.7016
Cell Significance Index: 45.2700 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.5811
Cell Significance Index: 71.4500 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 0.4704
Cell Significance Index: 29.6500 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: 0.4219
Cell Significance Index: 29.8400 - Cell Name: retinal rod cell (CL0000604)
Fold Change: 0.3658
Cell Significance Index: 4.3600 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.3620
Cell Significance Index: 197.6700 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 0.3370
Cell Significance Index: 25.1200 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.2986
Cell Significance Index: 20.6500 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.2898
Cell Significance Index: 52.2400 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.2217
Cell Significance Index: 44.0000 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: 0.1568
Cell Significance Index: 9.6400 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.1253
Cell Significance Index: 23.8500 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 0.1067
Cell Significance Index: 4.7200 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.0795
Cell Significance Index: 2.2900 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.0457
Cell Significance Index: 2.7500 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.0332
Cell Significance Index: 21.0900 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.0077
Cell Significance Index: 0.2700 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0036
Cell Significance Index: 6.8200 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: -0.0096
Cell Significance Index: -6.6600 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0153
Cell Significance Index: -2.6100 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0183
Cell Significance Index: -11.4000 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0242
Cell Significance Index: -17.9400 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0264
Cell Significance Index: -19.9900 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: -0.0369
Cell Significance Index: -0.8000 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0405
Cell Significance Index: -74.6500 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0435
Cell Significance Index: -66.9500 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0437
Cell Significance Index: -4.4600 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0555
Cell Significance Index: -75.5100 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0617
Cell Significance Index: -45.2700 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0841
Cell Significance Index: -47.4200 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.0930
Cell Significance Index: -3.5200 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.1048
Cell Significance Index: -47.5700 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.1145
Cell Significance Index: -5.1900 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.1578
Cell Significance Index: -33.2400 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.1732
Cell Significance Index: -20.4200 - Cell Name: vascular lymphangioblast (CL0005022)
Fold Change: -0.1995
Cell Significance Index: -3.5300 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.2044
Cell Significance Index: -58.8200 - Cell Name: hippocampal interneuron (CL1001569)
Fold Change: -0.2082
Cell Significance Index: -2.7000 - Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: -0.2602
Cell Significance Index: -4.8100 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.2767
Cell Significance Index: -21.2400 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.2802
Cell Significance Index: -40.7300 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.2860
Cell Significance Index: -32.7700 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.3793
Cell Significance Index: -6.5000 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.3829
Cell Significance Index: -19.8900 - Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.3958
Cell Significance Index: -45.1800 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.4189
Cell Significance Index: -7.0100 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.4809
Cell Significance Index: -13.4400 - Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.5875
Cell Significance Index: -14.0900 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.6627
Cell Significance Index: -69.0000 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.6740
Cell Significance Index: -18.0300 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.7282
Cell Significance Index: -57.6700 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.8724
Cell Significance Index: -40.6800 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.8808
Cell Significance Index: -23.5200 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.9653
Cell Significance Index: -54.1700 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.9940
Cell Significance Index: -20.6200 - Cell Name: Purkinje cell (CL0000121)
Fold Change: -1.0349
Cell Significance Index: -22.6600 - Cell Name: granulosa cell (CL0000501)
Fold Change: -1.0614
Cell Significance Index: -27.9100 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -1.0959
Cell Significance Index: -23.2600 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -1.1082
Cell Significance Index: -67.9400 - Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: -1.2205
Cell Significance Index: -26.3700 - Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -1.2354
Cell Significance Index: -45.3500 - Cell Name: corneal epithelial cell (CL0000575)
Fold Change: -1.2546
Cell Significance Index: -17.8600 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: -1.2815
Cell Significance Index: -25.3400 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -1.2933
Cell Significance Index: -41.1900 - Cell Name: hippocampal astrocyte (CL0002604)
Fold Change: -1.3030
Cell Significance Index: -18.2200 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -1.3296
Cell Significance Index: -43.5300 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: -1.3598
Cell Significance Index: -28.9600 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -1.3761
Cell Significance Index: -47.8200 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -1.3916
Cell Significance Index: -44.5700 - Cell Name: ON-bipolar cell (CL0000749)
Fold Change: -1.4154
Cell Significance Index: -15.9900
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Other Information
Genular Protein ID: 705335050
Symbol: APRIO_HUMAN
Name: Alternative prion protein
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11780052
Title: The DNA sequence and comparative analysis of human chromosome 20.
PubMed ID: 11780052
DOI: 10.1038/414865a
PubMed ID: 21478263
Title: An overlapping reading frame in the PRNP gene encodes a novel polypeptide distinct from the prion protein.
PubMed ID: 21478263
DOI: 10.1096/fj.10-173815
Sequence Information:
- Length: 73
- Mass: 8691
- Checksum: 4360C28341A4CA52
- Sequence:
MEHWGQPIPG AGQPWRQPLP TSGRWWLGAA SWWWLGAASW WWLGAAPWWW LGTASWWWLG SRRWHPQSVE QAE
Genular Protein ID: 44896081
Symbol: PRIO_HUMAN
Name: Major prion protein
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 3755672
Title: Molecular cloning of a human prion protein cDNA.
PubMed ID: 3755672
PubMed ID: 1678248
Title: Genomic structure of the human prion protein gene.
PubMed ID: 1678248
PubMed ID: 9799790
Title: Complete genomic sequence and analysis of the prion protein gene region from three mammalian species.
PubMed ID: 9799790
DOI: 10.1101/gr.8.10.1022
PubMed ID: 10581485
Title: Novel PRNP sequence variant associated with familial encephalopathy.
PubMed ID: 10581485
DOI: 10.1002/(sici)1096-8628(19991215)88:6<653::aid-ajmg14>3.0.co;2-e
PubMed ID: 11780052
Title: The DNA sequence and comparative analysis of human chromosome 20.
PubMed ID: 11780052
DOI: 10.1038/414865a
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 3014653
Title: Human prion protein cDNA: molecular cloning, chromosomal mapping, and biological implications.
PubMed ID: 3014653
PubMed ID: 1363802
Title: Deletion in the prion protein gene in a demented patient.
PubMed ID: 1363802
DOI: 10.1093/hmg/1.6.443
PubMed ID: 9384372
PubMed ID: 7485229
Title: SSCP analysis and sequencing of the human prion protein gene (PRNP) detects two different 24 bp deletions in an atypical Alzheimer's disease family.
PubMed ID: 7485229
PubMed ID: 1672107
Title: Amyloid protein of Gerstmann-Straussler-Scheinker disease (Indiana kindred) is an 11 kd fragment of prion protein with an N-terminal glycine at codon 58.
PubMed ID: 1672107
PubMed ID: 1683708
Title: Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.
PubMed ID: 1683708
PubMed ID: 9792871
Title: A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.
PubMed ID: 9792871
DOI: 10.1086/302093
PubMed ID: 12732622
Title: Prion, amyloid beta-derived Cu(II) ions, or free Zn(II) ions support S-nitroso-dependent autocleavage of glypican-1 heparan sulfate.
PubMed ID: 12732622
PubMed ID: 12214108
Title: The Thr183Ala mutation, not the loss of the first glycosylation site, alters the physical properties of the prion protein.
PubMed ID: 12214108
PubMed ID: 16144413
Title: The octarepeat domain of the prion protein binds Cu(II) with three distinct coordination modes at pH 7.4.
PubMed ID: 16144413
DOI: 10.1021/ja053254z
PubMed ID: 18034490
Title: The prion protein is a combined zinc and copper binding protein: Zn2+ alters the distribution of Cu2+ coordination modes.
PubMed ID: 18034490
DOI: 10.1021/ja077146j
PubMed ID: 19059915
Title: Biosynthesis of prion protein nucleocytoplasmic isoforms by alternative initiation of translation.
PubMed ID: 19059915
PubMed ID: 29222195
Title: Biosynthesis of prion protein nucleocytoplasmic isoforms by alternative initiation of translation.
PubMed ID: 29222195
PubMed ID: 19349973
Title: Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.
PubMed ID: 19349973
DOI: 10.1038/nbt.1532
PubMed ID: 19936054
Title: Glypican-1 mediates both prion protein lipid raft association and disease isoform formation.
PubMed ID: 19936054
PubMed ID: 19381258
Title: Early onset prion disease from octarepeat expansion correlates with copper or zinc binding properties.
PubMed ID: 19381258
PubMed ID: 20375014
Title: Prion fibrillization is mediated by a native structural element that comprises helices H2 and H3.
PubMed ID: 20375014
PubMed ID: 20564047
Title: Copper (II) promotes the formation of soluble neurotoxic PrP oligomers in acidic environment.
PubMed ID: 20564047
DOI: 10.1002/jcb.22743
PubMed ID: 21478263
Title: An overlapping reading frame in the PRNP gene encodes a novel polypeptide distinct from the prion protein.
PubMed ID: 21478263
DOI: 10.1096/fj.10-173815
PubMed ID: 21153684
Title: Characterizing the novel protein p33MONOX.
PubMed ID: 21153684
PubMed ID: 10954699
Title: Solution structure of the E200K variant of human prion protein. Implications for the mechanism of pathogenesis in familial prion diseases.
PubMed ID: 10954699
PubMed ID: 10618385
Title: NMR solution structure of the human prion protein.
PubMed ID: 10618385
PubMed ID: 10900000
Title: NMR structures of three single-residue variants of the human prion protein.
PubMed ID: 10900000
PubMed ID: 11524679
Title: Crystal structure of the human prion protein reveals a mechanism for oligomerization.
PubMed ID: 11524679
DOI: 10.1038/nsb0901-770
PubMed ID: 11900542
Title: Molecular features of the copper binding sites in the octarepeat domain of the prion protein.
PubMed ID: 11900542
DOI: 10.1021/bi011922x
PubMed ID: 14623188
Title: The octapeptide repeats in mammalian prion protein constitute a pH-dependent folding and aggregation site.
PubMed ID: 14623188
PubMed ID: 8364585
Title: Mutations and polymorphisms in the prion protein gene.
PubMed ID: 8364585
PubMed ID: 8105771
Title: Genetic and infectious prion diseases.
PubMed ID: 8105771
PubMed ID: 17468747
Title: Atomic structures of amyloid cross-beta spines reveal varied steric zippers.
PubMed ID: 17468747
DOI: 10.1038/nature05695
PubMed ID: 19204296
Title: Crystal structure of human prion protein bound to a therapeutic antibody.
PubMed ID: 19204296
PubMed ID: 19927125
Title: Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.
PubMed ID: 19927125
PubMed ID: 2564168
Title: Linkage of a prion protein missense variant to Gerstmann-Straussler syndrome.
PubMed ID: 2564168
DOI: 10.1038/338342a0
PubMed ID: 2783132
Title: Pro-->Leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Straussler syndrome.
PubMed ID: 2783132
PubMed ID: 1347910
Title: Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.
PubMed ID: 1347910
DOI: 10.1212/wnl.42.3.669
PubMed ID: 1671440
Title: New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.
PubMed ID: 1671440
PubMed ID: 1975028
Title: Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia.
PubMed ID: 1975028
PubMed ID: 1363810
Title: Mutant prion proteins in Gerstmann-Straussler-Scheinker disease with neurofibrillary tangles.
PubMed ID: 1363810
DOI: 10.1038/ng0492-68
PubMed ID: 1439789
Title: Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
PubMed ID: 1439789
PubMed ID: 8461023
Title: Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Straussler syndrome.
PubMed ID: 8461023
PubMed ID: 7902693
Title: A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.
PubMed ID: 7902693
PubMed ID: 7902972
Title: A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Straussler-Scheinker disease.
PubMed ID: 7902972
PubMed ID: 7699395
Title: A variant of Gerstmann-Straussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study.
PubMed ID: 7699395
PubMed ID: 7906019
Title: Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.
PubMed ID: 7906019
DOI: 10.1212/wnl.44.2.299
PubMed ID: 7913755
Title: Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease.
PubMed ID: 7913755
PubMed ID: 7783876
Title: Gerstmann-Straussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.
PubMed ID: 7783876
PubMed ID: 8797472
Title: Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Straussler-Scheinker disease (PrP-P102L mutation).
PubMed ID: 8797472
DOI: 10.1212/wnl.47.3.734
PubMed ID: 8909447
Title: Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.
PubMed ID: 8909447
PubMed ID: 9266722
Title: Familial spongiform encephalopathy associated with a novel prion protein gene mutation.
PubMed ID: 9266722
PubMed ID: 9786248
Title: Phenotypic variability of Gerstmann-Straussler-Scheinker disease is associated with prion protein heterogeneity.
PubMed ID: 9786248
PubMed ID: 9482303
Title: Protective prion protein polymorphisms against sporadic Creutzfeldt-Jakob disease.
PubMed ID: 9482303
PubMed ID: 10987652
Title: Molecular genetics of human prion diseases in Germany.
PubMed ID: 10987652
PubMed ID: 10631141
Title: High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.
PubMed ID: 10631141
DOI: 10.1086/302702
PubMed ID: 10790216
Title: Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.
PubMed ID: 10790216
DOI: 10.1002/(sici)1098-1004(200005)15:5<482::aid-humu16>3.0.co;2-1
PubMed ID: 11709001
Title: A new PRNP mutation (G131V) associated with Gerstmann-Straussler-Scheinker disease.
PubMed ID: 11709001
PubMed ID: 12690204
Title: Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics.
PubMed ID: 12690204
PubMed ID: 19923577
Title: A novel protective prion protein variant that colocalizes with kuru exposure.
PubMed ID: 19923577
PubMed ID: 26061765
Title: A naturally occurring variant of the human prion protein completely prevents prion disease.
PubMed ID: 26061765
DOI: 10.1038/nature14510
Sequence Information:
- Length: 253
- Mass: 27661
- Checksum: 43DB596BAAA66484
- Sequence:
MANLGCWMLV LFVATWSDLG LCKKRPKPGG WNTGGSRYPG QGSPGGNRYP PQGGGGWGQP HGGGWGQPHG GGWGQPHGGG WGQPHGGGWG QGGGTHSQWN KPSKPKTNMK HMAGAAAAGA VVGGLGGYML GSAMSRPIIH FGSDYEDRYY RENMHRYPNQ VYYRPMDEYS NQNNFVHDCV NITIKQHTVT TTTKGENFTE TDVKMMERVV EQMCITQYER ESQAYYQRGS SMVLFSSPPV ILLISFLIFL IVG
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.