• Gene id: 5621

Gene Summary

• Gene Symbol: PRNP   Gene   UCSC   Ensembl
• Aliases: ASCR, AltPrP, CD230, CJD, GSS, KURU, PRIP, PrP, PrP27-30, PrP33-35C, PrPc, p27-30
• Gene name: prion protein
• Alternate names: major prion protein, alternative prion protein, CD230 antigen, prion-related protein,
• Gene location: 20p13 (4686455: 4701587)     Exons: 2     NC_000020.11
• Gene summary(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 foun
• OMIM: 176640

Protein Summary

• Protein general information: F7VJQ1  
  • Name: Alternative prion protein (AltPrP)
  • Length: 73  
  • Mass: 8691
  • Tissue specificity: Detected in brain homogenate, primary neurons, and peripheral blood mononuclear cells (at protein level). {ECO
• Sequence:

  MEHWGQPIPGAGQPWRQPLPTSGRWWLGAASWWWLGAASWWWLGAAPWWWLGTASWWWLGSRRWHPQSVEQAE

• Other Databases: GeneCards:  PRNP  Malacards:  PRNP
• Protein general information: P04156  
  
  Name: Major prion protein (PrP) (ASCR) (PrP27 30) (PrP33 35C) (CD antigen CD230)
  
  Length: 253  Mass: 27661
• Sequence: MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQ
  PHGGGWGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYY
  RENMHRYPNQVYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAY
  YQRGSSMVLFSSPPVILLISFLIFLIVG
• Structural information:

  Interpro:	IPR000817  IPR036924  IPR022416  IPR025860
  Prosite:	PS00291 PS00706
  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 5YJ4 5YJ5 6DU9
  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 5YJ4 5YJ5 6DU9
  DIP:	29933
  MINT:
  STRING:	ENSP00000368752

• Other Databases: GeneCards:  PRNP  Malacards:  PRNP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0001540	amyloid-beta binding	IDA	molecular function
GO:0031805	type 8 metabotropic glutamate receptor binding	IDA	NOT|molecular function
GO:0001540	amyloid-beta binding	TAS	molecular function
GO:0001540	amyloid-beta binding	IPI	molecular function
GO:0001540	amyloid-beta binding	ISS	molecular function
GO:0005507	copper ion binding	TAS	molecular function
GO:0030425	dendrite	IDA	colocalizes with
GO:0001540	amyloid-beta binding	TAS	molecular function
GO:0002020	protease binding	ISS	molecular function
GO:0038023	signaling receptor activity	ISS	molecular function
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0005539	glycosaminoglycan binding	ISS	molecular function
GO:0031802	type 5 metabotropic glutamate receptor binding	ISS	molecular function
GO:0031802	type 5 metabotropic glutamate receptor binding	IPI	molecular function
GO:1990535	neuron projection maintenance	ISS	biological process
GO:0019828	aspartic-type endopeptidase inhibitor activity	ISS	molecular function
GO:1902938	regulation of intracellular calcium activated chloride channel activity	IGI	biological process
GO:0007611	learning or memory	ISS	biological process
GO:0007616	long-term memory	TAS	biological process
GO:0044877	protein-containing complex binding	ISS	molecular function
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:1902951	negative regulation of dendritic spine maintenance	ISS	biological process
GO:1904645	response to amyloid-beta	ISS	biological process
GO:1904646	cellular response to amyloid-beta	IGI	biological process
GO:1901216	positive regulation of neuron death	ISS	biological process
GO:0035584	calcium-mediated signaling using intracellular calcium source	IGI	biological process
GO:1902992	negative regulation of amyloid precursor protein catabolic process	ISS	biological process
GO:0045121	membrane raft	IMP	cellular component
GO:0098794	postsynapse	TAS	cellular component
GO:1905664	regulation of calcium ion import across plasma membrane	ISS	biological process
GO:0014069	postsynaptic density	TAS	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0031362	anchored component of external side of plasma membrane	NAS	cellular component
GO:1902430	negative regulation of amyloid-beta formation	ISS	biological process
GO:0010955	negative regulation of protein processing	TAS	biological process
GO:0050730	regulation of peptidyl-tyrosine phosphorylation	ISS	biological process
GO:0061098	positive regulation of protein tyrosine kinase activity	IGI	biological process
GO:0090314	positive regulation of protein targeting to membrane	ISS	biological process
GO:0090647	modulation of age-related behavioral decline	ISS	biological process
GO:0097062	dendritic spine maintenance	TAS	biological process
GO:1900449	regulation of glutamate receptor signaling pathway	ISS	biological process
GO:0005507	copper ion binding	TAS	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0005507	copper ion binding	IDA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0051260	protein homooligomerization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0007050	cell cycle arrest	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0071280	cellular response to copper ion	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005521	lamin binding	IEA	molecular function
GO:0007611	learning or memory	IEA	biological process
GO:0043008	ATP-dependent protein binding	IEA	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043086	negative regulation of catalytic activity	IEA	biological process
GO:0044325	ion channel binding	IEA	molecular function
GO:0046686	response to cadmium ion	IEA	biological process
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0005507	copper ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0007611	learning or memory	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0032703	negative regulation of interleukin-2 production	IEA	biological process
GO:0035584	calcium-mediated signaling using intracellular calcium source	IEA	biological process
GO:0035690	cellular response to drug	IEA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043195	terminal bouton	IEA	cellular component
GO:0043433	negative regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0046007	negative regulation of activated T cell proliferation	IEA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:1902951	negative regulation of dendritic spine maintenance	IEA	biological process
GO:1904645	response to amyloid-beta	IEA	biological process
GO:1904646	cellular response to amyloid-beta	IEA	biological process
GO:1990535	neuron projection maintenance	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0031802	type 5 metabotropic glutamate receptor binding	IEA	molecular function
GO:0046688	response to copper ion	IEA	biological process
GO:0051087	chaperone binding	IEA	molecular function
GO:1900272	negative regulation of long-term synaptic potentiation	IEA	biological process
GO:1903078	positive regulation of protein localization to plasma membrane	IEA	biological process
GO:0001540	amyloid-beta binding	IEA	molecular function
GO:0002020	protease binding	IEA	molecular function
GO:0005539	glycosaminoglycan binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0006979	response to oxidative stress	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0010942	positive regulation of cell death	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0019828	aspartic-type endopeptidase inhibitor activity	IEA	molecular function
GO:0031802	type 5 metabotropic glutamate receptor binding	IEA	molecular function
GO:0032147	activation of protein kinase activity	IEA	biological process
GO:0032689	negative regulation of interferon-gamma production	IEA	biological process
GO:0032700	negative regulation of interleukin-17 production	IEA	biological process
GO:0032880	regulation of protein localization	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0050730	regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0050860	negative regulation of T cell receptor signaling pathway	IEA	biological process
GO:0070885	negative regulation of calcineurin-NFAT signaling cascade	IEA	biological process
GO:0090314	positive regulation of protein targeting to membrane	IEA	biological process
GO:0090647	modulation of age-related behavioral decline	IEA	biological process
GO:1900449	regulation of glutamate receptor signaling pathway	IEA	biological process
GO:1901216	positive regulation of neuron death	IEA	biological process
GO:1901379	regulation of potassium ion transmembrane transport	IEA	biological process
GO:1902430	negative regulation of amyloid-beta formation	IEA	biological process
GO:1902992	negative regulation of amyloid precursor protein catabolic process	IEA	biological process
GO:1903078	positive regulation of protein localization to plasma membrane	IEA	biological process
GO:1903135	cupric ion binding	IEA	molecular function
GO:1905664	regulation of calcium ion import across plasma membrane	IEA	biological process
GO:0001933	negative regulation of protein phosphorylation	ISS	biological process
GO:0032703	negative regulation of interleukin-2 production	ISS	biological process
GO:0043433	negative regulation of DNA-binding transcription factor activity	ISS	biological process
GO:0046007	negative regulation of activated T cell proliferation	ISS	biological process
GO:0032689	negative regulation of interferon-gamma production	ISS	biological process
GO:0032700	negative regulation of interleukin-17 production	ISS	biological process
GO:0050860	negative regulation of T cell receptor signaling pathway	ISS	biological process
GO:0070885	negative regulation of calcineurin-NFAT signaling cascade	ISS	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0043525	positive regulation of neuron apoptotic process	IMP	biological process
GO:0016234	inclusion body	IMP	cellular component
GO:1903136	cuprous ion binding	IMP	molecular function
GO:0031648	protein destabilization	IMP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0015631	tubulin binding	IDA	molecular function
GO:0008017	microtubule binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0045121	membrane raft	ISS	cellular component
GO:0019898	extrinsic component of membrane	TAS	cellular component
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0006878	cellular copper ion homeostasis	NAS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0005507	copper ion binding	TAS	molecular function
GO:0009986	cell surface	HDA	cellular component
GO:0006979	response to oxidative stress	ISS	biological process
GO:0005737	cytoplasm	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04216	Ferroptosis
hsa05020	Prion diseases

Diseases

Associated diseases	References
Huntington disease-like syndrome	KEGG:H01243
Prion disease	KEGG:H00061
Huntington disease-like syndrome	KEGG:H01243
Prion disease	KEGG:H00061
Creutzfeldt-Jakob disease	PMID:1684755
Teratozoospermia	MIK: 17327269
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R