PRNP (prion protein (Kanno blood group))

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5621
Gene name Gene Name - the full gene name approved by the HGNC.
Prion protein (Kanno blood group)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRNP
Synonyms (NCBI Gene) Gene synonyms aliases
ASCR, AltPrP, CD230, CJD, GSS, KURU, PRIP, PrP, PrP27-30, PrP33-35C, PrPc, p27-30
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p13
Summary Summary of gene provided in NCBI Entrez Gene.
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 foun
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
SNP ID Visualize variation Clinical significance Consequence
rs1799990 A>G Risk-factor, pathogenic, benign Missense variant, coding sequence variant, 3 prime UTR variant
rs11538758 C>A,T Pathogenic Missense variant, coding sequence variant, 3 prime UTR variant
rs17852079 C>A,T Pathogenic Missense variant, coding sequence variant, 3 prime UTR variant, stop gained
rs28933385 G>A Pathogenic Missense variant, coding sequence variant, 3 prime UTR variant
rs74315401 C>T Pathogenic Coding sequence variant, missense variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(654)
miRTarBase ID miRNA Experiments Reference
MIRT016426 hsa-miR-193b-3p Microarray 20304954
MIRT019398 hsa-miR-148b-3p Microarray 17612493
MIRT020222 hsa-miR-130b-3p Sequencing 20371350
MIRT024424 hsa-miR-215-5p Microarray 19074876
MIRT026010 hsa-miR-148a-3p Sequencing 20371350
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
MTF1 Activation 18990686
SP1 Activation 18990686
SP1 Unknown 23131565
XBP1 Unknown 23737521
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(132)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0001540 Function Amyloid-beta binding IDA 24012003
GO:0001540 Function Amyloid-beta binding IEA
GO:0001540 Function Amyloid-beta binding IPI 22820466
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
176640 9449 ENSG00000171867
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P04156
Protein name Major prion protein (PrP) (ASCR) (PrP27-30) (PrP33-35C) (CD antigen CD230)
Protein 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 recept
PDB 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11587 Prion_bPrPp 1 → 28 Major prion protein bPrPp - N terminal Family
PF00377 Prion 134 → 252 Prion/Doppel alpha-helical domain Domain
Sequence 
MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQP
HGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGA
VVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQVYYRPMDEYSNQNNFVHDCV
NITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPV
ILLISFLIFLIVG
Sequence length 253
UniProt ID F7VJQ1
Protein name Alternative prion protein (AltPrP)
Family and domains
Tissue specificity TISSUE SPECIFICITY: Detected in brain homogenate, primary neurons, and peripheral blood mononuclear cells (at protein level). {ECO:0000269|PubMed:21478263}.
Sequence 
MEHWGQPIPGAGQPWRQPLPTSGRWWLGAASWWWLGAASWWWLGAAPWWWLGTASWWWLG
SRRWHPQSVEQAE
Sequence length 73
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Ferroptosis
Prion disease
Pathways of neurodegeneration - multiple diseases 		  Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Creutzfeldt-Jakob Disease Inherited Creutzfeldt-Jakob disease rs74315401, rs398122370, rs28933385, rs74315412, rs193922906 N/A
Gerstmann-Straussler-Scheinker Syndrome gerstmann-straussler-scheinker syndrome rs74315415, rs11538758, rs74315402, rs74315410, rs17852079, rs74315405, rs74315413, rs193922906, rs74315406, rs74315401 N/A
Huntington Disease-Like huntington disease-like 1 rs74315406, rs74315401, rs74315411, rs80356711, rs74315410, rs28933385, rs74315403, rs74315412, rs74315405, rs193922906 N/A
Spongiform Encephalopathy With Neuropsychiatric Features spongiform encephalopathy with neuropsychiatric features rs74315401, rs74315411, rs74315413, rs74315414 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
autism spectrum disorder Autism spectrum disorder N/A N/A ClinVar
Show/Hide Text Mining Associations (205)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 10438517, 11087738, 16443601, 18025469, 19911184, 23527686, 28109886, 33123960, 8105481, 8570627
Acquired CJD Associate 11704923, 14966171, 22952813, 27310471, 34578377, 35738080, 37013454, 37831099
Akinetic Mutism Associate 10675225, 23764840, 24118545, 25495585, 27929803, 29509064, 29861043, 32627665
alpha 1 Antitrypsin Deficiency Autosomal Recessive Associate 18571782, 20695009, 20973975, 22558438, 25331173
Alzheimer Disease Associate 11770893, 19571725, 20576610, 21416485, 21654203, 22701727, 23577068, 24958194, 27910931, 28671123, 30451334, 31182772, 33131137, 34470554, 35144616
View all (3 more)
Alzheimer Disease Inhibit 24047819
Alzheimer Disease 15 Associate 8570627
Alzheimer's disease without Neurofibrillary tangles Associate 30961668
Amyloid angiopathy Associate 27716661, 8570627
Amyloidosis Associate 29455155, 35819518