LOCUS       NM_000311               2435 bp    mRNA    linear   PRI 11-MAR-2025
DEFINITION  Homo sapiens prion protein (Kanno blood group) (PRNP), transcript
            variant 1, mRNA.
ACCESSION   NM_000311
VERSION     NM_000311.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2435)
  AUTHORS   Sridharan,V., George,T., Conroy,D.W., Shaffer,Z., Surewicz,W.K. and
            Jaroniec,C.P.
  TITLE     Copper binding alters the core structure of amyloid fibrils formed
            by Y145Stop human prion protein
  JOURNAL   Phys Chem Chem Phys 26 (41), 26489-26496 (2024)
   PUBMED   39392708
  REMARK    GeneRIF: Copper binding alters the core structure of amyloid
            fibrils formed by Y145Stop human prion protein.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2435)
  AUTHORS   da Silva Correia,A., Schmitz,M., Fischer,A.L., da Silva Correia,S.,
            Simonetti,F.L., Saher,G., Goya-Maldonado,R., Arora,A.S.,
            Fischer,A., Outeiro,T.F. and Zerr,I.
  TITLE     Cellular prion protein acts as mediator of amyloid beta uptake by
            caveolin-1 causing cellular dysfunctions in vitro and in vivo
  JOURNAL   Alzheimers Dement 20 (10), 6776-6792 (2024)
   PUBMED   39212313
  REMARK    GeneRIF: Cellular prion protein acts as mediator of amyloid beta
            uptake by caveolin-1 causing cellular dysfunctions in vitro and in
            vivo.
REFERENCE   3  (bases 1 to 2435)
  AUTHORS   Lailler,C., Didelot,A., Garinet,S., Berthou,H., Sroussi,M., de
            Reynies,A., Dedhar,S., Martin-Lanneree,S., Fabre,E., Le
            Pimpec-Barthes,F., Perrier,A., Poindessous,V., Mansuet-Lupo,A.,
            Djouadi,F., Launay,J.M., Laurent-Puig,P., Blons,H. and
            Mouillet-Richard,S.
  TITLE     PrPC controls epithelial-to-mesenchymal transition in EGFR-mutated
            NSCLC: implications for TKI resistance and patient follow-up
  JOURNAL   Oncogene 43 (37), 2781-2794 (2024)
   PUBMED   39147880
  REMARK    GeneRIF: PrP[C] controls epithelial-to-mesenchymal transition in
            EGFR-mutated NSCLC: implications for TKI resistance and patient
            follow-up.
REFERENCE   4  (bases 1 to 2435)
  AUTHORS   Vanderperre,B., Staskevicius,A.B., Tremblay,G., McCoy,M.,
            O'Neill,M.A., Cashman,N.R. and Roucou,X.
  TITLE     An overlapping reading frame in the PRNP gene encodes a novel
            polypeptide distinct from the prion protein
  JOURNAL   FASEB J 25 (7), 2373-2386 (2011)
   PUBMED   21478263
  REMARK    GeneRIF: Results demonstrate an unexpected function for PRNP,
            which, in addition to plasma membrane-anchored PrP, also encodes a
            second polypeptide termed AltPrP.
REFERENCE   5  (bases 1 to 2435)
  AUTHORS   Li,B., Qing,L., Yan,J. and Kong,Q.
  TITLE     Instability of the octarepeat region of the human prion protein
            gene
  JOURNAL   PLoS One 6 (10), e26635 (2011)
   PUBMED   22028931
  REMARK    GeneRIF: instability of the octarepeat region of the human prion
            protein gene
REFERENCE   6  (bases 1 to 2435)
  AUTHORS   Zerr,I. and Schmitz,M.
  TITLE     Genetic Prion Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301407
REFERENCE   7  (bases 1 to 2435)
  AUTHORS   Muller,W.E., Pfeifer,K., Forrest,J., Rytik,P.G., Eremin,V.F.,
            Popov,S.A. and Schroder,H.C.
  TITLE     Accumulation of transcripts coding for prion protein in human
            astrocytes during infection with human immunodeficiency virus
  JOURNAL   Biochim Biophys Acta 1139 (1-2), 32-40 (1992)
   PUBMED   1351748
REFERENCE   8  (bases 1 to 2435)
  AUTHORS   Medori,R., Montagna,P., Tritschler,H.J., LeBlanc,A., Cortelli,P.,
            Tinuper,P., Lugaresi,E. and Gambetti,P.
  TITLE     Fatal familial insomnia: a second kindred with mutation of prion
            protein gene at codon 178
  JOURNAL   Neurology 42 (3 Pt 1), 669-670 (1992)
   PUBMED   1347910
REFERENCE   9  (bases 1 to 2435)
  AUTHORS   Medori,R., Tritschler,H.J., LeBlanc,A., Villare,F., Manetto,V.,
            Chen,H.Y., Xue,R., Leal,S., Montagna,P., Cortelli,P. et al.
  TITLE     Fatal familial insomnia, a prion disease with a mutation at codon
            178 of the prion protein gene
  JOURNAL   N Engl J Med 326 (7), 444-449 (1992)
   PUBMED   1346338
REFERENCE   10 (bases 1 to 2435)
  AUTHORS   Goldfarb,L.G., Brown,P., McCombie,W.R., Goldgaber,D.,
            Swergold,G.D., Wills,P.R., Cervenakova,L., Baron,H., Gibbs,C.J. Jr.
            and Gajdusek,D.C.
  TITLE     Transmissible familial Creutzfeldt-Jakob disease associated with
            five, seven, and eight extra octapeptide coding repeats in the PRNP
            gene
  JOURNAL   Proc Natl Acad Sci U S A 88 (23), 10926-10930 (1991)
   PUBMED   1683708
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC325819.1, M13899.1 and
            AI131269.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000311.4.
            
            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].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1-5 can all encode the same isoform (Prp).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.111164.1,
                                           SRR1660809.259593.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379440.9/ ENSP00000368752.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                DC325819.1         363-380
            19-2094             M13899.1           1-2076
            2095-2435           AI131269.1         12-352              c
FEATURES             Location/Qualifiers
     source          1..2435
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..2435
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU;
                     p27-30; PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /note="prion protein (Kanno blood group)"
                     /db_xref="GeneID:5621"
                     /db_xref="HGNC:HGNC:9449"
                     /db_xref="MIM:176640"
     exon            1..57
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU;
                     p27-30; PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /inference="alignment:Splign:2.1.0"
     exon            58..2435
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU;
                     p27-30; PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..829
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU;
                     p27-30; PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /note="preproprotein Prp precursor is encoded by
                     transcript variant 1; prion-related protein; alternative
                     prion protein; major prion protein; CD230 antigen"
                     /codon_start=1
                     /product="major prion protein preproprotein Prp precursor"
                     /protein_id="NP_000302.1"
                     /db_xref="CCDS:CCDS13080.1"
                     /db_xref="GeneID:5621"
                     /db_xref="HGNC:HGNC:9449"
                     /db_xref="MIM:176640"
                     /translation="MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSP
                     GGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQGGGTHSQWNKP
                     SKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQ
                     VYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQY
                     ERESQAYYQRGSSMVLFSSPPVILLISFLIFLIVG"
     regulatory      2411..2416
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU;
                     p27-30; PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /note="hexamer: ATTAAA"
     polyA_site      2435
                     /gene="PRNP"
                     /gene_synonym="AltPrP; ASCR; CD230; CJD; GSS; KURU;
                     p27-30; PRIP; PrP; PrP27-30; PrP33-35C; PrPc"
                     /note="major polyA site"
ORIGIN      
        1 gccagtcgct gacagccgcg gcgccgcgag cttctcctct cctcacgacc gaggcagagc
       61 agtcattatg gcgaaccttg gctgctggat gctggttctc tttgtggcca catggagtga
      121 cctgggcctc tgcaagaagc gcccgaagcc tggaggatgg aacactgggg gcagccgata
      181 cccggggcag ggcagccctg gaggcaaccg ctacccacct cagggcggtg gtggctgggg
      241 gcagcctcat ggtggtggct gggggcagcc tcatggtggt ggctgggggc agccccatgg
      301 tggtggctgg ggacagcctc atggtggtgg ctggggtcaa ggaggtggca cccacagtca
      361 gtggaacaag ccgagtaagc caaaaaccaa catgaagcac atggctggtg ctgcagcagc
      421 tggggcagtg gtggggggcc ttggcggcta catgctggga agtgccatga gcaggcccat
      481 catacatttc ggcagtgact atgaggaccg ttactatcgt gaaaacatgc accgttaccc
      541 caaccaagtg tactacaggc ccatggatga gtacagcaac cagaacaact ttgtgcacga
      601 ctgcgtcaat atcacaatca agcagcacac ggtcaccaca accaccaagg gggagaactt
      661 caccgagacc gacgttaaga tgatggagcg cgtggttgag cagatgtgta tcacccagta
      721 cgagagggaa tctcaggcct attaccagag aggatcgagc atggtcctct tctcctctcc
      781 acctgtgatc ctcctgatct ctttcctcat cttcctgata gtgggatgag gaaggtcttc
      841 ctgttttcac catctttcta atctttttcc agcttgaggg aggcggtatc cacctgcagc
      901 ccttttagtg gtggtgtctc actctttctt ctctctttgt cccggatagg ctaatcaata
      961 cccttggcac tgatgggcac tggaaaacat agagtagacc tgagatgctg gtcaagcccc
     1021 ctttgattga gttcatcatg agccgttgct aatgccaggc cagtaaaagt ataacagcaa
     1081 ataaccattg gttaatctgg acttattttt ggacttagtg caacaggttg aggctaaaac
     1141 aaatctcaga acagtctgaa atacctttgc ctggatacct ctggctcctt cagcagctag
     1201 agctcagtat actaatgccc tatcttagta gagatttcat agctatttag agatattttc
     1261 cattttaaga aaacccgaca acatttctgc caggtttgtt aggaggccac atgatactta
     1321 ttcaaaaaaa tcctagagat tcttagctct tgggatgcag gctcagcccg ctggagcatg
     1381 agctctgtgt gtaccgagaa ctggggtgat gttttacttt tcacagtatg ggctacacag
     1441 cagctgttca acaagagtaa atattgtcac aacactgaac ctctggctag aggacatatt
     1501 cacagtgaac ataactgtaa catatatgaa aggcttctgg gacttgaaat caaatgtttg
     1561 ggaatggtgc ccttggaggc aacctcccat tttagatgtt taaaggaccc tatatgtggc
     1621 attcctttct ttaaactata ggtaattaag gcagctgaaa agtaaattgc cttctagaca
     1681 ctgaaggcaa atctcctttg tccatttacc tggaaaccag aatgattttg acatacagga
     1741 gagctgcagt tgtgaaagca ccatcatcat agaggatgat gtaattaaaa aatggtcagt
     1801 gtgcaaagaa aagaactgct tgcatttctt tatttctgtc tcataattgt caaaaaccag
     1861 aattaggtca agttcatagt ttctgtaatt ggcttttgaa tcaaagaata gggagacaat
     1921 ctaaaaaata tcttaggttg gagatgacag aaatatgatt gatttgaagt ggaaaaagaa
     1981 attctgttaa tgttaattaa agtaaaatta ttccctgaat tgtttgatat tgtcacctag
     2041 cagatatgta ttacttttct gcaatgttat tattggcttg cactttgtga gtattctatg
     2101 taaaaatata tatgtatata aaatatatat tgcataggac agacttagga gttttgttta
     2161 gagcagttaa catctgaagt gtctaatgca ttaacttttg taaggtactg aatacttaat
     2221 atgtgggaaa cccttttgcg tggtccttag gcttacaatg tgcactgaat cgtttcatgt
     2281 aagaatccaa agtggacacc attaacaggt ctttgaaata tgcatgtact ttatattttc
     2341 tatatttgta actttgcatg ttcttgtttt gttatataaa aaaattgtaa atgtttaata
     2401 tctgactgaa attaaacgag cgaagatgag cacca
//
