LOCUS       NM_012409               3981 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens prion like protein doppel (PRND), mRNA.
ACCESSION   NM_012409
VERSION     NM_012409.4
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 3981)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3981)
  AUTHORS   Al-Hilal,T.A., Chung,S.W., Choi,J.U., Alam,F., Park,J., Kim,S.W.,
            Kim,S.Y., Ahsan,F., Kim,I.S. and Byun,Y.
  TITLE     Targeting prion-like protein doppel selectively suppresses tumor
            angiogenesis
  JOURNAL   J Clin Invest 126 (4), 1251-1266 (2016)
   PUBMED   26950422
  REMARK    GeneRIF: results demonstrate that blocking doppel can control VEGF
            signaling in TECs and selectively inhibit tumor angiogenesis.
REFERENCE   3  (bases 1 to 3981)
  AUTHORS   Flirski,M., Sieruta,M., Golanska,E., Kloszewska,I., Liberski,P.P.
            and Sobow,T.
  TITLE     PRND 3'UTR polymorphism may be associated with behavioral
            disturbances in Alzheimer disease
  JOURNAL   Prion 6 (1), 73-80 (2012)
   PUBMED   22453181
  REMARK    GeneRIF: The association between the APOE, CYP46, PRNP and PRND
            genes and the profile of neuropsychiatric symptoms in Polish
            subjects with Alzheimer's disease and mild cognitive impairment,
            was evaluated.
REFERENCE   4  (bases 1 to 3981)
  AUTHORS   La Mendola,D., Magri,A., Campagna,T., Campitiello,M.A., Raiola,L.,
            Isernia,C., Hansson,O., Bonomo,R.P. and Rizzarelli,E.
  TITLE     A doppel alpha-helix peptide fragment mimics the copper(II)
            interactions with the whole protein
  JOURNAL   Chemistry 16 (21), 6212-6223 (2010)
   PUBMED   20411530
REFERENCE   5  (bases 1 to 3981)
  AUTHORS   Rognoni,P., Chiarelli,L.R., Comincini,S., Azzalin,A., Miracco,C.
            and Valentini,G.
  TITLE     Biochemical signatures of doppel protein in human astrocytomas to
            support prediction in tumor malignancy
  JOURNAL   J Biomed Biotechnol 2010, 301067 (2010)
   PUBMED   20981146
  REMARK    GeneRIF: in astrocytomas, Dpl undergoes different molecular
            processes that might constitute additional helpful tools to
            characterize the glial tumor progression
REFERENCE   6  (bases 1 to 3981)
  AUTHORS   Peoc'h,K., Serres,C., Frobert,Y., Martin,C., Lehmann,S.,
            Chasseigneaux,S., Sazdovitch,V., Grassi,J., Jouannet,P.,
            Launay,J.M. and Laplanche,J.L.
  TITLE     The human 'prion-like' protein Doppel is expressed in both Sertoli
            cells and spermatozoa
  JOURNAL   J Biol Chem 277 (45), 43071-43078 (2002)
   PUBMED   12200435
  REMARK    GeneRIF: expression pattern and biochemical characteristics in
            human tissues and in Chinese hamster ovary cells transfected with
            wild-type or variant human Dpl gene constructs
REFERENCE   7  (bases 1 to 3981)
  AUTHORS   Moore,R.C., Mastrangelo,P., Bouzamondo,E., Heinrich,C., Legname,G.,
            Prusiner,S.B., Hood,L., Westaway,D., DeArmond,S.J. and Tremblay,P.
  TITLE     Doppel-induced cerebellar degeneration in transgenic mice
  JOURNAL   Proc Natl Acad Sci U S A 98 (26), 15288-15293 (2001)
   PUBMED   11734625
REFERENCE   8  (bases 1 to 3981)
  AUTHORS   Schroder,B., Franz,B., Hempfling,P., Selbert,M., Jurgens,T.,
            Kretzschmar,H.A., Bodemer,M., Poser,S. and Zerr,I.
  TITLE     Polymorphisms within the prion-like protein gene (Prnd) and their
            implications in human prion diseases, Alzheimer's disease and other
            neurological disorders
  JOURNAL   Hum Genet 109 (3), 319-325 (2001)
   PUBMED   11702213
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 3981)
  AUTHORS   Lu,K., Wang,W., Xie,Z., Wong,B.S., Li,R., Petersen,R.B., Sy,M.S.
            and Chen,S.G.
  TITLE     Expression and structural characterization of the recombinant human
            doppel protein
  JOURNAL   Biochemistry 39 (44), 13575-13583 (2000)
   PUBMED   11063595
REFERENCE   10 (bases 1 to 3981)
  AUTHORS   Peoc'h,K., Guerin,C., Brandel,J.P., Launay,J.M. and Laplanche,J.L.
  TITLE     First report of polymorphisms in the prion-like protein gene
            (PRND): implications for human prion diseases
  JOURNAL   Neurosci Lett 286 (2), 144-148 (2000)
   PUBMED   10825657
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313404.1, BC043644.2 and
            AL133396.2.
            
            On Nov 22, 2018 this sequence version replaced NM_012409.3.
            
            Summary: This gene is found on chromosome 20, approximately 20 kbp
            downstream of the gene encoding cellular prion protein, to which it
            is biochemically and structurally similar. The protein encoded by
            this gene is a membrane glycosylphosphatidylinositol-anchored
            glycoprotein that is found predominantly in testis. Mutations in
            this gene may lead to neurological disorders. [provided by RefSeq,
            Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC043644.2, SRR5189667.150419.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305817.3/ ENSP00000306900.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AK313404.1         56-56
            2-592               BC043644.2         1-591
            593-3981            AL133396.2         95465-98853
FEATURES             Location/Qualifiers
     source          1..3981
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..3981
                     /gene="PRND"
                     /gene_synonym="dJ1068H6.4; DOPPEL; DPL; PrPLP"
                     /note="prion like protein doppel"
                     /db_xref="GeneID:23627"
                     /db_xref="HGNC:HGNC:15748"
                     /db_xref="MIM:604263"
     exon            1..61
                     /gene="PRND"
                     /gene_synonym="dJ1068H6.4; DOPPEL; DPL; PrPLP"
                     /inference="alignment:Splign:2.1.0"
     exon            62..3981
                     /gene="PRND"
                     /gene_synonym="dJ1068H6.4; DOPPEL; DPL; PrPLP"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..603
                     /gene="PRND"
                     /gene_synonym="dJ1068H6.4; DOPPEL; DPL; PrPLP"
                     /note="prion gene complex, downstream; prion protein 2
                     (dublet); downstream prion protein-like"
                     /codon_start=1
                     /product="prion-like protein doppel preproprotein"
                     /protein_id="NP_036541.2"
                     /db_xref="CCDS:CCDS13081.1"
                     /db_xref="GeneID:23627"
                     /db_xref="HGNC:HGNC:15748"
                     /db_xref="MIM:604263"
                     /translation="MRKHLSWWWLATVCMLLFSHLSAVQTRGIKHRIKWNRKALPSTA
                     QITEAQVAENRPGAFIKQGRKLDIDFGAEGNRYYEANYWQFPDGIHYNGCSEANVTKE
                     AFVTGCINATQAANQGEFQKPDNKLHQQVLWRLVQELCSLKHCEFWLERGAGLRVTMH
                     QPVLLCLLALIWLTVK"
     regulatory      3959..3964
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PRND"
                     /gene_synonym="dJ1068H6.4; DOPPEL; DPL; PrPLP"
                     /note="hexamer: AATAAA"
     polyA_site      3981
                     /gene="PRND"
                     /gene_synonym="dJ1068H6.4; DOPPEL; DPL; PrPLP"
                     /note="major polyA site"
ORIGIN      
        1 agggtgtgct gggggactgt gcagctcgag gctccagagg cacactccag agagagccaa
       61 ggttctgacg cgatgaggaa gcacctgagc tggtggtggc tggccactgt ctgcatgctg
      121 ctcttcagcc acctctctgc ggtccagacg aggggcatca agcacagaat caagtggaac
      181 cggaaggccc tgcccagcac tgcccagatc actgaggccc aggtggctga gaaccgcccg
      241 ggagccttca tcaagcaagg ccgcaagctc gacattgact tcggagccga gggcaacagg
      301 tactacgagg ccaactactg gcagttcccc gatggcatcc actacaacgg ctgctctgag
      361 gctaatgtga ccaaggaggc atttgtcacc ggctgcatca atgccaccca ggcggcgaac
      421 cagggggagt tccagaagcc agacaacaag ctccaccagc aggtgctctg gcggctggtc
      481 caggagctct gctccctcaa gcattgcgag ttttggttgg agaggggcgc aggacttcgg
      541 gtcaccatgc accagccagt gctcctctgc cttctggctt tgatctggct cacggtgaaa
      601 taagcttgcc aggaggctgg cagtacagag tgcagcagcg agcaaatcct ggcaagtgac
      661 ccagctcttc tcccccaaac ccacgcgtgt tctgaaggtg cccaggagcg gcgatgcact
      721 cgcactgcaa atgccgctct cacgtatgcg ccctggtatg tgcctgcgtt ctgatagatg
      781 ggggactgtg gcttctccgt cactccattc tcagccccta gcagagcgtc tggcacacta
      841 gattagtagt aaatgcttga tgagaagaac acatcaggca ctgcgccacc tgcttcacag
      901 tacttcccaa caactcttag aggtaggtgt attcccgttt tacagataag gaaactgagg
      961 cccagagagc tgaagtactg cacccagcat caccagctag aaagtggcag agccaggatt
     1021 caaccctggc ttgtctaacc ccaggttttc tgctctgtcc aattccagag ctgtctggtg
     1081 atcactttat gtctcacagg gacccacatc caaacatgta tctctaatga aattgtgaaa
     1141 gctccatgtt tagaaataaa tgaaaacacc tgagctggtg gctgtgtact ttgactggta
     1201 catggaggct attttaatcc ttctaactaa actaaaatag attaaaggaa ttaaactaaa
     1261 atacaagtaa agctagacaa aggcccagaa atcatactgt aaggaaatgt tattggaagc
     1321 tgattcccag agcagaccac atatacagca ggatgtgcct gtggcatgaa gattttcttt
     1381 ctcttttttt ttttttttta gatggagttt tactcttgtt gcccaggctg gagtgcaacg
     1441 gcatgatttt ggctcactgc agcctctgcc tcccaggctc aagcactttt cctgtctcag
     1501 ccttccgagt agctgggatt acaggtgtgt gccatcatgc ctgactaatt ttgtattttt
     1561 agtagagaca gggtttcacc atgttggcca ggctggtctt gaactcctga cctcaggtga
     1621 tccacccacc tgggcctccc atagtgctgg gattcaattt tttttttttt tttttcaaaa
     1681 gaagggtaag tgcttgctgt tcccatccct gaaacattgc atgtatttaa gaaaaacaaa
     1741 atgttagtgg catatttgct tctaatgttc ccctaaccct acatgcatgt tttatgtgca
     1801 ctcatatgag tatctttaaa tataatccct ttacatctgt gttctatgca aagtctctca
     1861 tttctttcaa gacagcctaa tgaaggccat catctctgta aaccacttgt cactacaaaa
     1921 atacaattac tcaccaaaaa gctttaaaaa ataaagctgt gtctttaggg agacccaata
     1981 aagaatgcaa tccatgccat aagcaggagt tgatacacca ccttattagc taaaaatata
     2041 tataacacaa tatgagtaat gtttaagatc tgttttaaat ttaaaacaat gaattgaatg
     2101 ctctaagagg ctcctacagg cgctccaggc cactctcaga gactcccagg agttgttgaa
     2161 ctatatttgg agaaaacagc cactgaatat tatcatttct cctttaaaga gagtttgtaa
     2221 ggggggaaca tgcattttat cagacaattt atccaaagca ttgcagaaca tgagtgctga
     2281 tgagggcacc tcttgtgctg agtcccctca gctatcagtg ttcttctcaa ggacacattt
     2341 ggaaggtttt aacattgaaa gtgagcggag gacttggggg cagagcagca caaagaaaca
     2401 gccttacact gggcacatgg aggagacgtc caccctgcag ccaggactgg ggttcacgtc
     2461 actgccagag ctacactcgc cttctgcttc cacggtcctg ttaattctag atcagagagc
     2521 aagaaaaaag tacagaacat atcctctacg gttatttcct gctttctaat taaaaaaata
     2581 ataaccatgg caagagagaa agaaagagaa agtactcaga ggctgacact gacatttcac
     2641 ttcctcgctc tcctaagttt aattacaaca gcacgtgcag ccacgtcagc caaatgactt
     2701 catttctgat gtgaaaacgc ttaggccatg atgtcgttca ttttctgtaa ttgctgcctt
     2761 ttctcattct gttaatagtc ccggcaacca gatttcagtg gggcatgacg tgaatgtgta
     2821 tatggtgatt caaatgcaaa atttgtttat ggggctttta atcgaacgcg tgtgtgcctg
     2881 aacattcttg ctcaagttga tgaatcatgg ggtggaataa aggctgagtt tagtttttca
     2941 ctttagcaaa ggggcaatgg ggtgcctact atgtgcgaga cattgggagg ggcttctgaa
     3001 ttattctgga tatcgtcatt ttgcagtgtg cataattttg ccaaccgttg ctttcgtagc
     3061 ccctgctaag tgttgacttt ttaaaatata agtttattgt aaaagtgaca tgaaaattac
     3121 aacagatatt ccagaccaaa ataatacaac aatcccagca tctgattgag tcagtgtttg
     3181 ctgtttcccc tgcactttcc tagttcttaa gcatttgcgt atgtaaacat tcatatttgc
     3241 aataaaaaag tgagctttta tattctaaat ttttacttaa cttaattcaa tgctttctac
     3301 tcatttttct atactttttt ttttgaggca gagtctcatt ctgttgccca ggctggagtg
     3361 cagtggcgtg atcttggctc actacaacct ccaccttcca ggcttaagcg attctcatgc
     3421 ctcatcctcc caagtaggtg ggattacagg tgcccaccac caagccctgc aaattttttt
     3481 gtatttttag tagagacagt gttttgccat gttggccagg ctggtctcga actcctgaca
     3541 tcaggtgatc cacctgcctc ggcctcccaa agtgctggga ttacaggtgt gagccaccac
     3601 gccctgccta ctctttgttt tctttcctcc ccacccattt tcccccgtcc tgtcccctcc
     3661 ttccagcctg agatgtaggc tccaccttaa ctgtgctcag atacacaagt gagggctttt
     3721 taacttgatt atgcctttta aaaatactat gtatgtaaaa tatttattca tctgcaattt
     3781 ggcttcccta acttaacatt gcatcatgaa actctttgga acaacagcta tctagatagc
     3841 tgactcattc ttttggattg ctacgtaatc tcacttaata cagatgtatc atgattgatt
     3901 gaatcattgc cttgttgatg ggccttcaga ttatttccag ttttttgcca ctgcaaacaa
     3961 taaacatcct tgtacatact a
//
