PRNP

Name

prion protein (Kanno blood group)

Type

protein-coding

Position

4,685,730–4,701,590 (+)

Aliases

ASCR, AltPrP, CD230, CJD, GSS, KURU, PRIP, PrP, PrP27-30, PrP33-35C

Ensembl

ENSG00000171867

RefSeq RNA

NM_000311.5, NM_001080121.3, NM_001080122.3, NM_001080123.3, NM_001271561.3

RefSeq protein

NP_000302.1, NP_001073590.1, NP_001073591.1, NP_001073592.1, NP_001258490.1

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].

via MyGene.info

Gene · Ensembl

prion protein (Kanno blood group)

Symbol

PRNP

Biotype

Protein coding

Organism

Homo sapiens

Location

20:4,685,730-4,701,590

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

Instance of

gene

Image

PDB 6DU9.png

via Wikidata · CC0