LOCUS       NM_001039509            2956 bp    mRNA    linear   ROD 21-AUG-2024
DEFINITION  Mus musculus paroxysmal nonkinesiogenic dyskinesia (Pnkd),
            transcript variant 3, mRNA.
ACCESSION   NM_001039509
VERSION     NM_001039509.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2956)
  AUTHORS   Nelson,A.B., Girasole,A.E., Lee,H.Y., Ptacek,L.J. and Kreitzer,A.C.
  TITLE     Striatal Indirect Pathway Dysfunction Underlies Motor Deficits in a
            Mouse Model of Paroxysmal Dyskinesia
  JOURNAL   J Neurosci 42 (13), 2835-2848 (2022)
   PUBMED   35165171
REFERENCE   2  (bases 1 to 2956)
  AUTHORS   Shen,Y., Ge,W.P., Li,Y., Hirano,A., Lee,H.Y., Rohlmann,A.,
            Missler,M., Tsien,R.W., Jan,L.Y., Fu,Y.H. and Ptacek,L.J.
  TITLE     Protein mutated in paroxysmal dyskinesia interacts with the active
            zone protein RIM and suppresses synaptic vesicle exocytosis
  JOURNAL   Proc Natl Acad Sci U S A 112 (10), 2935-2941 (2015)
   PUBMED   25730884
  REMARK    GeneRIF: PNKD KO mice, RIM1/2 protein levels are reduced and
            synaptic strength is impaired. Thus, PNKD is a novel synaptic
            protein with a regulatory role in neurotransmitter release
REFERENCE   3  (bases 1 to 2956)
  AUTHORS   Lee,H.Y., Nakayama,J., Xu,Y., Fan,X., Karouani,M., Shen,Y.,
            Pothos,E.N., Hess,E.J., Fu,Y.H., Edwards,R.H. and Ptacek,L.J.
  TITLE     Dopamine dysregulation in a mouse model of paroxysmal
            nonkinesigenic dyskinesia
  JOURNAL   J Clin Invest 122 (2), 507-518 (2012)
   PUBMED   22214848
  REMARK    GeneRIF: These findings support the hypothesis that the PNKD
            protein functions to modulate striatal neuro-transmitter release in
            response to stress and other precipitating factors.
REFERENCE   4  (bases 1 to 2956)
  AUTHORS   Shen,Y., Lee,H.Y., Rawson,J., Ojha,S., Babbitt,P., Fu,Y.H. and
            Ptacek,L.J.
  TITLE     Mutations in PNKD causing paroxysmal dyskinesia alters protein
            cleavage and stability
  JOURNAL   Hum Mol Genet 20 (12), 2322-2332 (2011)
   PUBMED   21487022
REFERENCE   5  (bases 1 to 2956)
  AUTHORS   Tang,T., Li,L., Tang,J., Li,Y., Lin,W.Y., Martin,F., Grant,D.,
            Solloway,M., Parker,L., Ye,W., Forrest,W., Ghilardi,N., Oravecz,T.,
            Platt,K.A., Rice,D.S., Hansen,G.M., Abuin,A., Eberhart,D.E.,
            Godowski,P., Holt,K.H., Peterson,A., Zambrowicz,B.P. and de
            Sauvage,F.J.
  TITLE     A mouse knockout library for secreted and transmembrane proteins
  JOURNAL   Nat Biotechnol 28 (7), 749-755 (2010)
   PUBMED   20562862
REFERENCE   6  (bases 1 to 2956)
  AUTHORS   Desai,J., Shannon,M.E., Johnson,M.D., Ruff,D.W., Hughes,L.A.,
            Kerley,M.K., Carpenter,D.A., Johnson,D.K., Rinchik,E.M. and
            Culiat,C.T.
  TITLE     Nell1-deficient mice have reduced expression of extracellular
            matrix proteins causing cranial and vertebral defects
  JOURNAL   Hum Mol Genet 15 (8), 1329-1341 (2006)
   PUBMED   16537572
REFERENCE   7  (bases 1 to 2956)
  AUTHORS   Li,T.B., Hu,Y., Wang,Y.G. and Xia,H.Z.
  TITLE     [Cloning of mMR-1 gene and expression in Pichia pastoris systems]
  JOURNAL   Sheng Wu Gong Cheng Xue Bao 21 (1), 25-29 (2005)
   PUBMED   15859324
REFERENCE   8  (bases 1 to 2956)
  AUTHORS   Lee,H.Y., Xu,Y., Huang,Y., Ahn,A.H., Auburger,G.W., Pandolfo,M.,
            Kwiecinski,H., Grimes,D.A., Lang,A.E., Nielsen,J.E., Averyanov,Y.,
            Servidei,S., Friedman,A., Van Bogaert,P., Abramowicz,M.J.,
            Bruno,M.K., Sorensen,B.F., Tang,L., Fu,Y.H. and Ptacek,L.J.
  TITLE     The gene for paroxysmal non-kinesigenic dyskinesia encodes an
            enzyme in a stress response pathway
  JOURNAL   Hum Mol Genet 13 (24), 3161-3170 (2004)
   PUBMED   15496428
  REMARK    GeneRIF: Paroxysmal non-kinesigenic dyskinesia (PNKD) is
            characterized by spontaneous hyperkinetic attacks that are
            precipitated by alcohol, coffee, stress and fatigue.
REFERENCE   9  (bases 1 to 2956)
  AUTHORS   Okazaki,N., F-Kikuno,R., Ohara,R., Inamoto,S., Koseki,H.,
            Hiraoka,S., Saga,Y., Seino,S., Nishimura,M., Kaisho,T., Hoshino,K.,
            Kitamura,H., Nagase,T., Ohara,O. and Koga,H.
  TITLE     Prediction of the coding sequences of mouse homologues of KIAA
            gene: IV. The complete nucleotide sequences of 500 mouse
            KIAA-homologous cDNAs identified by screening of terminal sequences
            of cDNA clones randomly sampled from size-fractionated libraries
  JOURNAL   DNA Res 11 (3), 205-218 (2004)
   PUBMED   15368895
REFERENCE   10 (bases 1 to 2956)
  AUTHORS   Liu,M., Liu,Y., Cheng,J., Zhang,S.L., Wang,L., Shao,Q., Zhang,J.
            and Yang,Q.
  TITLE     Transactivating effect of hepatitis C virus core protein: a
            suppression subtractive hybridization study
  JOURNAL   World J Gastroenterol 10 (12), 1746-1749 (2004)
   PUBMED   15188498
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF318058.1, AK173125.1 and BU604861.1.
            
            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 :: SRR1660821.123058.1,
                                           SRR1660817.225998.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                AF318058.1         105-130
            27-2948             AK173125.1         1-2922
            2949-2956           BU604861.1         475-482
FEATURES             Location/Qualifiers
     source          1..2956
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10090"
                     /chromosome="1"
                     /map="1 38.53 cM"
     gene            1..2956
                     /gene="Pnkd"
                     /gene_synonym="2210013N15Rik; 2810403H05Rik; Brp17;
                     MNCb-5687; MR-1; Tahccp2"
                     /note="paroxysmal nonkinesiogenic dyskinesia"
                     /db_xref="GeneID:56695"
                     /db_xref="MGI:MGI:1930773"
     exon            1..104
                     /gene="Pnkd"
                     /gene_synonym="2210013N15Rik; 2810403H05Rik; Brp17;
                     MNCb-5687; MR-1; Tahccp2"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..1195
                     /gene="Pnkd"
                     /gene_synonym="2210013N15Rik; 2810403H05Rik; Brp17;
                     MNCb-5687; MR-1; Tahccp2"
                     /EC_number="3.1.2.6"
                     /note="isoform 3 is encoded by transcript variant 3; brain
                     protein 17; probable hydrolase PNKD; trans-activated by
                     hepatitis C virus core protein 2; myofibrillogenesis
                     regulator 1; paroxysmal nonkinesiogenic dyskinesia
                     protein"
                     /codon_start=1
                     /product="probable hydrolase PNKD isoform 3"
                     /protein_id="NP_001034598.1"
                     /db_xref="CCDS:CCDS35613.1"
                     /db_xref="GeneID:56695"
                     /db_xref="MGI:MGI:1930773"
                     /translation="MAAVVAATALKGRGARNARVLRGILSGATANKASQNRTRALQSH
                     SSPECKEEPEPLSPELEYIPRKRGKNPMKAVGLAWYSLYTRTWLGYLFYRQQLRRARN
                     RYPKGHSKTQPRLFNGVKVLPIPVLSDNYSYLIIDTQAGLAVAVDPSDPRAVQASIEK
                     ERVNLVAILCTHKHWDHSGGNRDLSRRHRDCRVYGSPQDGIPYLTHPLCHQDVVSVGR
                     LQIRALATPGHTQGHLVYLLDGEPYKGPSCLFSGDLLFLSGCGRTFEGTAETMLSSLD
                     TVLDLGDDTLLWPGHEYAEENLGFAGVVEPENLARERKMQWVQRQRMERKSTCPSTLG
                     EERAYNPFLRTHCLELQEALGPGPGPTSDDGCSRAQLLEELRRLKDMHKSK"
     exon            105..273
                     /gene="Pnkd"
                     /gene_synonym="2210013N15Rik; 2810403H05Rik; Brp17;
                     MNCb-5687; MR-1; Tahccp2"
                     /inference="alignment:Splign:2.1.0"
     exon            274..389
                     /gene="Pnkd"
                     /gene_synonym="2210013N15Rik; 2810403H05Rik; Brp17;
                     MNCb-5687; MR-1; Tahccp2"
                     /inference="alignment:Splign:2.1.0"
     exon            390..502
                     /gene="Pnkd"
                     /gene_synonym="2210013N15Rik; 2810403H05Rik; Brp17;
                     MNCb-5687; MR-1; Tahccp2"
                     /inference="alignment:Splign:2.1.0"
     exon            503..561
                     /gene="Pnkd"
                     /gene_synonym="2210013N15Rik; 2810403H05Rik; Brp17;
                     MNCb-5687; MR-1; Tahccp2"
                     /inference="alignment:Splign:2.1.0"
     exon            562..654
                     /gene="Pnkd"
                     /gene_synonym="2210013N15Rik; 2810403H05Rik; Brp17;
                     MNCb-5687; MR-1; Tahccp2"
                     /inference="alignment:Splign:2.1.0"
     exon            655..818
                     /gene="Pnkd"
                     /gene_synonym="2210013N15Rik; 2810403H05Rik; Brp17;
                     MNCb-5687; MR-1; Tahccp2"
                     /inference="alignment:Splign:2.1.0"
     exon            819..905
                     /gene="Pnkd"
                     /gene_synonym="2210013N15Rik; 2810403H05Rik; Brp17;
                     MNCb-5687; MR-1; Tahccp2"
                     /inference="alignment:Splign:2.1.0"
     exon            906..1021
                     /gene="Pnkd"
                     /gene_synonym="2210013N15Rik; 2810403H05Rik; Brp17;
                     MNCb-5687; MR-1; Tahccp2"
                     /inference="alignment:Splign:2.1.0"
     exon            1022..2956
                     /gene="Pnkd"
                     /gene_synonym="2210013N15Rik; 2810403H05Rik; Brp17;
                     MNCb-5687; MR-1; Tahccp2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2926..2931
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pnkd"
                     /gene_synonym="2210013N15Rik; 2810403H05Rik; Brp17;
                     MNCb-5687; MR-1; Tahccp2"
                     /note="hexamer: AATAAA"
     regulatory      2937..2942
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pnkd"
                     /gene_synonym="2210013N15Rik; 2810403H05Rik; Brp17;
                     MNCb-5687; MR-1; Tahccp2"
                     /note="hexamer: AATGAA"
     polyA_site      2950
                     /gene="Pnkd"
                     /gene_synonym="2210013N15Rik; 2810403H05Rik; Brp17;
                     MNCb-5687; MR-1; Tahccp2"
                     /note="major polyA site"
     polyA_site      2954
                     /gene="Pnkd"
                     /gene_synonym="2210013N15Rik; 2810403H05Rik; Brp17;
                     MNCb-5687; MR-1; Tahccp2"
ORIGIN      
        1 cgacggggag cgcagtgaag gggggtggga cccgaacatg gcggcggtgg tagctgctac
       61 ggcgctgaag ggccgggggg cgagaaatgc ccgcgtcctc cgggggatcc tctctggagc
      121 cacagctaac aaggcttccc agaacaggac cagagcactg cagagccaca gctcaccaga
      181 atgcaaggag gagcccgagc ccctctcccc tgagctagaa tacattccca gaaagagggg
      241 caagaacccc atgaaagccg tggggctagc ctggtatagc ctgtacaccc gaacctggct
      301 tgggtacctc ttctaccgac agcagcttcg gagggctcgg aatcgctatc ccaaaggcca
      361 ctccaaaact cagccccgcc tcttcaatgg agtgaaggtg cttcccatcc ctgtcctctc
      421 ggacaactac agctacctca tcatcgacac ccaggctggg ctggcagtgg ctgtggaccc
      481 ctcagacccg agggctgtgc aggcttccat tgaaaaggaa agagttaact tggttgccat
      541 tctctgcacc cacaagcact gggaccacag tggagggaac cgtgacctca gccggcggca
      601 cagggactgt cgagtgtatg ggagccctca ggatggtatc ccctacctca cccaccccct
      661 gtgtcatcaa gatgtggtca gcgtgggacg acttcagatt cgagccctag ccacccctgg
      721 ccacactcaa ggccatctgg tctacctgct ggatggggag ccctacaaag gtccttcctg
      781 cctcttctca ggggacctgc tcttcctctc tggctgtgga cggaccttcg aaggcacagc
      841 ggagaccatg ctgagctcac tggacactgt gttagacctg ggggatgaca ccctgctgtg
      901 gcctgggcat gaatacgcag aagagaacct gggctttgca ggcgtggtgg agcccgagaa
      961 cttggctcgt gagaggaaga tgcagtgggt acagaggcaa cggatggaac gcaagagcac
     1021 atgcccatcc accctgggag aggaacgcgc ctacaaccca ttcctgagaa cccattgcct
     1081 ggaactacag gaggctctgg ggccagggcc aggccccacc agtgatgacg gctgctcccg
     1141 ggcccagctc ctggaggagc tgcgccgcct gaaggacatg cataaaagca agtgaataat
     1201 aaccctcgcc caccccaatc cagggtctcc cagcagaggg gaggccaccc accacccaca
     1261 cttcaccatc ctcttcatca ctaataccac caccaccacc accattggtg ccctaggcag
     1321 cactaatcct ccagactggc cagggagggc agagcccagg caatgggacc tagaggagga
     1381 agcactggga ggctgagacc ccacacagta caggtggtgt ttagggtaag aggaaggaag
     1441 caactgaaac gtctccagac tttgctacct tggagggtct gcctcccctc ccccactcat
     1501 ggaccaatcg ccagatcatg aaggctgcat ttggctcctg ctccagaggc cacaccacca
     1561 ctagagccct agaacccagg agaagagagt cctgaccagg ctagtctatc ttccaccttc
     1621 ccccatgcag ggttgtaggg gaagctcacc ccaaaaatga tctaacgtgt ggtgcctggg
     1681 aaagtggtca tcaaccaggg cagccagact ctgggtgact gagactctaa gtcccaccct
     1741 acctaccttg ctaagacatt gccaggcaga gccattccta agaacaccta aggactggaa
     1801 gcctggttct ggcccatccc tgcctcagtg gatgtcctga aggccagaga gagaggttcc
     1861 tggttgccaa ggaatcttct gcttcaggcc agggagtcaa aggatgatgg cacacagagc
     1921 cacacaccac gcacatctgt tctgggtctg ccattgtccc gggtcataag ggcctgcctg
     1981 ccttcccagg ggagagtgaa ctgtggtctg cctcagagac ctgcttctcc tttccgccct
     2041 tgttcttagg aattcctgcc tgcctgctgt ctcacttaac ctctcttgct ctatcttcac
     2101 cccctttcct ctctgagtca ttaaaggctg actttcttcc agcctggtac tcatccggct
     2161 ctttgcagtt tgccaaaaac cttcattccc acgtcatttc ccactggatc ccagggccct
     2221 cttgttgtca gtgtgcagat agcagaggtc tgggaatagg aagctccagt gagtggcagc
     2281 ttccaggacc tcaggcctgg ccatacccca ctgctcatcc ccctccagat ctgcttgtcc
     2341 tctggtctca ggtcaagggc cctttgtggc cacaggagca ctatggtcgt tttgcaagca
     2401 caccttaggt gagttagcca ggagccacat ctttctgtgt cagagccttc cactgggctg
     2461 tgcagtgccc tctgttgttc ctctgagatg cccctgcctc agtttcccct ctcatttggc
     2521 ttcggctgcc ctctccaggc acagcctttg gaactcactc tagcaatacc accggactag
     2581 ttagccttcc cggccccaag acactcgcag tttcatgcct ttgtgccttt cgctcatgcg
     2641 gtttcttcag ctggaatgcc ttcccgctcc tgccgcctcc tctgcctggc aaacacctgt
     2701 tagcctctcc caggcccctc ccccaggaag gcacccttca cccctctctt ccaggctacc
     2761 tctgcacctg taaatgcttc tctcgtggca cctatcacac cgtactttac ttgtttacat
     2821 gtttgtctcc ccttctagac tgtgaatcct taagggcatg gactgtatct tatgcatctc
     2881 tgtatttctg cgcctagcac ggtgcctggc acacagtagg cgctcaataa atgttgaatg
     2941 aatgatttaa ccaagg
//
