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PRNP (prion protein)

Identity

Alias_namesPRIP
GSS
CJD
prion protein (p27-30)
Alias_symbol (synonym)CD230
PRP
AltPrP
Other aliasASCR
KURU
PrP
PrP27-30
PrP33-35C
PrPc
p27-30
HGNC (Hugo) PRNP
LocusID (NCBI) 5621
Atlas_Id 50612
Location 20p13  [Link to chromosome band 20p13]
Location_base_pair Starts at 4686094 and ends at 4701590 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KCNG1 (20q13.13) / PRNP (20p13)PRNP (20p13) / ACTN4 (19q13.2)PRNP (20p13) / NUMBL (19q13.2)
PRNP (20p13) / PRNP (20p13)PRNP (20p13) / SLC20A1 (2q13)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PRNP   9449
Cards
Entrez_Gene (NCBI)PRNP  5621  prion protein
AliasesASCR; AltPrP; CD230; CJD; 
GSS; KURU; PRIP; PrP; PrP27-30; PrP33-35C; PrPc; p27-30
GeneCards (Weizmann)PRNP
Ensembl hg19 (Hinxton)ENSG00000171867 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171867 [Gene_View]  chr20:4686094-4701590 [Contig_View]  PRNP [Vega]
ICGC DataPortalENSG00000171867
TCGA cBioPortalPRNP
AceView (NCBI)PRNP
Genatlas (Paris)PRNP
WikiGenes5621
SOURCE (Princeton)PRNP
Genetics Home Reference (NIH)PRNP
Genomic and cartography
GoldenPath hg38 (UCSC)PRNP  -     chr20:4686094-4701590 +  20p13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PRNP  -     20p13   [Description]    (hg19-Feb_2009)
EnsemblPRNP - 20p13 [CytoView hg19]  PRNP - 20p13 [CytoView hg38]
Mapping of homologs : NCBIPRNP [Mapview hg19]  PRNP [Mapview hg38]
OMIM123400   137440   176640   245300   600072   603218   606688   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_000311 NM_001080121 NM_001080122 NM_001080123 NM_001271561 NM_183079
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PRNP
Cluster EST : UnigeneHs.721670 [ NCBI ]
CGAP (NCI)Hs.721670
Alternative Splicing GalleryENSG00000171867
Gene ExpressionPRNP [ NCBI-GEO ]   PRNP [ EBI - ARRAY_EXPRESS ]   PRNP [ SEEK ]   PRNP [ MEM ]
Gene Expression Viewer (FireBrowse)PRNP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5621
GTEX Portal (Tissue expression)PRNP
Protein : pattern, domain, 3D structure
UniProt/SwissProtP04156   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP04156  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP04156
Splice isoforms : SwissVarP04156
PhosPhoSitePlusP04156
Domaine pattern : Prosite (Expaxy)PRION_1 (PS00291)    PRION_2 (PS00706)   
Domains : Interpro (EBI)Prion    Prion/Doppel_prot_b-ribbon_dom    Prion_N_dom   
Domain families : Pfam (Sanger)Prion (PF00377)    Prion_bPrPp (PF11587)   
Domain families : Pfam (NCBI)pfam00377    pfam11587   
Domain families : Smart (EMBL)PRP (SM00157)  
Conserved Domain (NCBI)PRNP
DMDM Disease mutations5621
Blocks (Seattle)PRNP
PDB (SRS)1E1G    1E1J    1E1P    1E1S    1E1U    1E1W    1FKC    1FO7    1H0L    1HJM    1HJN    1I4M    1OEH    1OEI    1QLX    1QLZ    1QM0    1QM1    1QM2    1QM3    2IV4    2IV5    2IV6    2K1D    2KUN    2LBG    2LEJ    2LFT    2LSB    2LV1    2M8T    2OL9    2W9E    3HAF    3HAK    3HEQ    3HER    3HES    3HJ5    3HJX    3MD4    3MD5    3NHC    3NHD    3NVF    4DGI    4E1H    4E1I    4KML    4N9O    5L6R   
PDB (PDBSum)1E1G    1E1J    1E1P    1E1S    1E1U    1E1W    1FKC    1FO7    1H0L    1HJM    1HJN    1I4M    1OEH    1OEI    1QLX    1QLZ    1QM0    1QM1    1QM2    1QM3    2IV4    2IV5    2IV6    2K1D    2KUN    2LBG    2LEJ    2LFT    2LSB    2LV1    2M8T    2OL9    2W9E    3HAF    3HAK    3HEQ    3HER    3HES    3HJ5    3HJX    3MD4    3MD5    3NHC    3NHD    3NVF    4DGI    4E1H    4E1I    4KML    4N9O    5L6R   
PDB (IMB)1E1G    1E1J    1E1P    1E1S    1E1U    1E1W    1FKC    1FO7    1H0L    1HJM    1HJN    1I4M    1OEH    1OEI    1QLX    1QLZ    1QM0    1QM1    1QM2    1QM3    2IV4    2IV5    2IV6    2K1D    2KUN    2LBG    2LEJ    2LFT    2LSB    2LV1    2M8T    2OL9    2W9E    3HAF    3HAK    3HEQ    3HER    3HES    3HJ5    3HJX    3MD4    3MD5    3NHC    3NHD    3NVF    4DGI    4E1H    4E1I    4KML    4N9O    5L6R   
PDB (RSDB)1E1G    1E1J    1E1P    1E1S    1E1U    1E1W    1FKC    1FO7    1H0L    1HJM    1HJN    1I4M    1OEH    1OEI    1QLX    1QLZ    1QM0    1QM1    1QM2    1QM3    2IV4    2IV5    2IV6    2K1D    2KUN    2LBG    2LEJ    2LFT    2LSB    2LV1    2M8T    2OL9    2W9E    3HAF    3HAK    3HEQ    3HER    3HES    3HJ5    3HJX    3MD4    3MD5    3NHC    3NHD    3NVF    4DGI    4E1H    4E1I    4KML    4N9O    5L6R   
Structural Biology KnowledgeBase1E1G    1E1J    1E1P    1E1S    1E1U    1E1W    1FKC    1FO7    1H0L    1HJM    1HJN    1I4M    1OEH    1OEI    1QLX    1QLZ    1QM0    1QM1    1QM2    1QM3    2IV4    2IV5    2IV6    2K1D    2KUN    2LBG    2LEJ    2LFT    2LSB    2LV1    2M8T    2OL9    2W9E    3HAF    3HAK    3HEQ    3HER    3HES    3HJ5    3HJX    3MD4    3MD5    3NHC    3NHD    3NVF    4DGI    4E1H    4E1I    4KML    4N9O    5L6R   
SCOP (Structural Classification of Proteins)1E1G    1E1J    1E1P    1E1S    1E1U    1E1W    1FKC    1FO7    1H0L    1HJM    1HJN    1I4M    1OEH    1OEI    1QLX    1QLZ    1QM0    1QM1    1QM2    1QM3    2IV4    2IV5    2IV6    2K1D    2KUN    2LBG    2LEJ    2LFT    2LSB    2LV1    2M8T    2OL9    2W9E    3HAF    3HAK    3HEQ    3HER    3HES    3HJ5    3HJX    3MD4    3MD5    3NHC    3NHD    3NVF    4DGI    4E1H    4E1I    4KML    4N9O    5L6R   
CATH (Classification of proteins structures)1E1G    1E1J    1E1P    1E1S    1E1U    1E1W    1FKC    1FO7    1H0L    1HJM    1HJN    1I4M    1OEH    1OEI    1QLX    1QLZ    1QM0    1QM1    1QM2    1QM3    2IV4    2IV5    2IV6    2K1D    2KUN    2LBG    2LEJ    2LFT    2LSB    2LV1    2M8T    2OL9    2W9E    3HAF    3HAK    3HEQ    3HER    3HES    3HJ5    3HJX    3MD4    3MD5    3NHC    3NHD    3NVF    4DGI    4E1H    4E1I    4KML    4N9O    5L6R   
SuperfamilyP04156
Human Protein AtlasENSG00000171867
Peptide AtlasP04156
HPRD01453
IPIIPI00022284   IPI00956325   IPI00646788   IPI00902623   IPI01012642   IPI00382843   IPI00815657   IPI00797025   
Protein Interaction databases
DIP (DOE-UCLA)P04156
IntAct (EBI)P04156
FunCoupENSG00000171867
BioGRIDPRNP
STRING (EMBL)PRNP
ZODIACPRNP
Ontologies - Pathways
QuickGOP04156
Ontology : AmiGObeta-amyloid binding  beta-amyloid binding  negative regulation of protein phosphorylation  signal transducer activity  receptor activity  copper ion binding  copper ion binding  protein binding  lamin binding  cytoplasm  endoplasmic reticulum  Golgi apparatus  cytosol  plasma membrane  plasma membrane  cellular copper ion homeostasis  response to oxidative stress  cell cycle arrest  signal transduction  long-term memory  microtubule binding  metabolic process  cell surface  negative regulation of protein processing  postsynaptic density  tubulin binding  inclusion body  extrinsic component of membrane  dendrite  anchored component of external side of plasma membrane  protein destabilization  nuclear membrane  negative regulation of interferon-gamma production  negative regulation of interleukin-17 production  negative regulation of interleukin-2 production  cellular response to drug  identical protein binding  identical protein binding  ATP-dependent protein binding  negative regulation of apoptotic process  negative regulation of catalytic activity  intracellular membrane-bounded organelle  negative regulation of sequence-specific DNA binding transcription factor activity  positive regulation of neuron apoptotic process  ion channel binding  membrane raft  membrane raft  membrane raft  negative regulation of activated T cell proliferation  response to cadmium ion  positive regulation of peptidyl-tyrosine phosphorylation  negative regulation of T cell receptor signaling pathway  chaperone binding  protein homooligomerization  extracellular exosome  negative regulation of calcineurin-NFAT signaling cascade  cellular response to copper ion  positive regulation of protein targeting to membrane  postsynapse  negative regulation of long-term synaptic potentiation  regulation of potassium ion transmembrane transport  negative regulation of dendritic spine maintenance  cupric ion binding  cuprous ion binding  response to beta-amyloid  regulation of calcium ion import across plasma membrane  
Ontology : EGO-EBIbeta-amyloid binding  beta-amyloid binding  negative regulation of protein phosphorylation  signal transducer activity  receptor activity  copper ion binding  copper ion binding  protein binding  lamin binding  cytoplasm  endoplasmic reticulum  Golgi apparatus  cytosol  plasma membrane  plasma membrane  cellular copper ion homeostasis  response to oxidative stress  cell cycle arrest  signal transduction  long-term memory  microtubule binding  metabolic process  cell surface  negative regulation of protein processing  postsynaptic density  tubulin binding  inclusion body  extrinsic component of membrane  dendrite  anchored component of external side of plasma membrane  protein destabilization  nuclear membrane  negative regulation of interferon-gamma production  negative regulation of interleukin-17 production  negative regulation of interleukin-2 production  cellular response to drug  identical protein binding  identical protein binding  ATP-dependent protein binding  negative regulation of apoptotic process  negative regulation of catalytic activity  intracellular membrane-bounded organelle  negative regulation of sequence-specific DNA binding transcription factor activity  positive regulation of neuron apoptotic process  ion channel binding  membrane raft  membrane raft  membrane raft  negative regulation of activated T cell proliferation  response to cadmium ion  positive regulation of peptidyl-tyrosine phosphorylation  negative regulation of T cell receptor signaling pathway  chaperone binding  protein homooligomerization  extracellular exosome  negative regulation of calcineurin-NFAT signaling cascade  cellular response to copper ion  positive regulation of protein targeting to membrane  postsynapse  negative regulation of long-term synaptic potentiation  regulation of potassium ion transmembrane transport  negative regulation of dendritic spine maintenance  cupric ion binding  cuprous ion binding  response to beta-amyloid  regulation of calcium ion import across plasma membrane  
Pathways : BIOCARTAPrion Pathway [Genes]   
Pathways : KEGGPrion diseases   
NDEx NetworkPRNP
Atlas of Cancer Signalling NetworkPRNP
Wikipedia pathwaysPRNP
Orthology - Evolution
OrthoDB5621
GeneTree (enSembl)ENSG00000171867
Phylogenetic Trees/Animal Genes : TreeFamPRNP
HOVERGENP04156
HOGENOMP04156
Homologs : HomoloGenePRNP
Homology/Alignments : Family Browser (UCSC)PRNP
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRNP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRNP
dbVarPRNP
ClinVarPRNP
1000_GenomesPRNP 
Exome Variant ServerPRNP
ExAC (Exome Aggregation Consortium)PRNP (select the gene name)
Genetic variants : HAPMAP5621
Genomic Variants (DGV)PRNP [DGVbeta]
DECIPHERPRNP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPRNP 
Mutations
ICGC Data PortalPRNP 
TCGA Data PortalPRNP 
Broad Tumor PortalPRNP
OASIS PortalPRNP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRNP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRNP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PRNP
DgiDB (Drug Gene Interaction Database)PRNP
DoCM (Curated mutations)PRNP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRNP (select a term)
intoGenPRNP
Cancer3DPRNP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123400    137440    176640    245300    600072    603218    606688   
Orphanet809    810    17159    20467    20556    23660    22686   
MedgenPRNP
Genetic Testing Registry PRNP
NextProtP04156 [Medical]
TSGene5621
GENETestsPRNP
Target ValidationPRNP
Huge Navigator PRNP [HugePedia]
snp3D : Map Gene to Disease5621
BioCentury BCIQPRNP
ClinGenPRNP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5621
Chemical/Pharm GKB GenePA33796
Clinical trialPRNP
Miscellaneous
canSAR (ICR)PRNP (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRNP
EVEXPRNP
GoPubMedPRNP
iHOPPRNP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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