PRNP

GENE INFORMATION

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Gene name

PRNP (HGNC Symbol)

Synonyms

AltPrP, CD230, CJD, GSS, PRIP, PRP

Description

Prion protein (HGNC Symbol)

Entrez gene summary

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]

Chromosome

20

Cytoband

p13

Chromosome location (bp)

4686236 - 4701590

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000171867 (version 78.38)

Entrez gene

5621

UniProt

P04156 (UniProt - Evidence at protein level)

neXtProt

NX_P04156

Antibodypedia

PRNP antibodies
 

PROTEIN VIEW

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PRNP-001
 
PRNP-002
 
PRNP-003
 
PRNP-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PRNP-001 ENSP00000415284
ENST00000457586
X6RKS3
Show all »
Show » Show » 217 23.6 Yes 0
PRNP-002 ENSP00000368752
ENST00000379440
P04156
Show all »
Show » Show » 253 27.7 Yes 1
PRNP-003 ENSP00000399376
ENST00000430350
P04156
Show all »
Show » Show » 253 27.7 Yes 1
PRNP-004 ENSP00000411599
ENST00000424424
A2A2V1
Show all »
Show » Show » 249 27.3 Yes 1