LOCUS       NM_015488               2987 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens PNKD metallo-beta-lactamase domain containing (PNKD),
            transcript variant 1, mRNA.
ACCESSION   NM_015488
VERSION     NM_015488.5
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 2987)
  AUTHORS   Zhao,W., Li,Y., Cheng,H., Wang,M., Zhang,Z., Cai,M., Zhao,C.,
            Xi,X., Zhao,X., Zhao,W., Yang,Y. and Shao,R.
  TITLE     Myofibrillogenesis Regulator-1 Regulates the Ubiquitin Lysosomal
            Pathway of Notch3 Intracellular Domain Through E3 Ubiquitin-Protein
            Ligase Itchy Homolog in the Metastasis of Non-Small Cell Lung
            Cancer
  JOURNAL   Adv Sci (Weinh) 11 (15), e2306472 (2024)
   PUBMED   38342606
  REMARK    GeneRIF: Myofibrillogenesis Regulator-1 Regulates the Ubiquitin
            Lysosomal Pathway of Notch3 Intracellular Domain Through E3
            Ubiquitin-Protein Ligase Itchy Homolog in the Metastasis of
            Non-Small Cell Lung Cancer.
REFERENCE   2  (bases 1 to 2987)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   3  (bases 1 to 2987)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2987)
  AUTHORS   Sun,N., Nasello,C., Deng,L., Wang,N., Zhang,Y., Xu,Z., Song,Z.,
            Kwan,K., King,R.A., Pang,Z.P., Xing,J., Heiman,G.A. and
            Tischfield,J.A.
  TITLE     The PNKD gene is associated with Tourette Disorder or Tic disorder
            in a multiplex family
  JOURNAL   Mol Psychiatry 23 (6), 1487-1495 (2018)
   PUBMED   28894297
  REMARK    GeneRIF: A rare heterozygous nonsense mutation (C to T transition)
            was identified in a Tourette Disorder multiplex family by whole
            exome sequencing. Tourette or Tic Disorder-affected family members
            shared a heterozygous nonsense mutation (chr2: 219204814 C/T),
            which is not present in the unaffected individuals and absent in
            the background sample
REFERENCE   5  (bases 1 to 2987)
  AUTHORS   Raskind,W.H., Bolin,T., Wolff,J., Fink,J., Matsushita,M., Litt,M.,
            Lipe,H. and Bird,T.D.
  TITLE     Further localization of a gene for paroxysmal dystonic
            choreoathetosis to a 5-cM region on chromosome 2q34
  JOURNAL   Hum Genet 102 (1), 93-97 (1998)
   PUBMED   9490305
REFERENCE   6  (bases 1 to 2987)
  AUTHORS   Fink,J.K., Rainer,S., Wilkowski,J., Jones,S.M., Kume,A., Hedera,P.,
            Albin,R., Mathay,J., Girbach,L., Varvil,T., Otterud,B. and
            Leppert,M.
  TITLE     Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q
  JOURNAL   Am J Hum Genet 59 (1), 140-145 (1996)
   PUBMED   8659518
REFERENCE   7  (bases 1 to 2987)
  AUTHORS   Fouad,G.T., Servidei,S., Durcan,S., Bertini,E. and Ptacek,L.J.
  TITLE     A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome
            2q
  JOURNAL   Am J Hum Genet 59 (1), 135-139 (1996)
   PUBMED   8659517
REFERENCE   8  (bases 1 to 2987)
  AUTHORS   Sparkes,R.S., Lee,R.H., Shinohara,T., Craft,C.M., Kojis,T.,
            Klisak,I., Heinzmann,C. and Bateman,J.B.
  TITLE     Assignment of the phosducin (PDC) gene to human chromosome
            1q25-1q32.1 by somatic cell hybridization and in situ hybridization
  JOURNAL   Genomics 18 (2), 426-428 (1993)
   PUBMED   8288249
REFERENCE   9  (bases 1 to 2987)
  AUTHORS   Erro,R.
  TITLE     Familial Paroxysmal Nonkinesigenic Dyskinesia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301400
REFERENCE   10 (bases 1 to 2987)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF318057.1, AB033010.1,
            BC002937.2 and BC036457.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_015488.4.
            
            Summary: This gene is thought to play a role in the regulation of
            myofibrillogenesis. Mutations in this gene have been associated
            with the movement disorder paroxysmal non-kinesigenic dyskinesia.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (1), alternately referred to as
            the long form (MR-1L), represents the longest transcript and
            encodes the longest isoform (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 :: BC036457.2, SRR1660803.2910.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142363, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000273077.9/
                                                  ENSP00000273077.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-32                AF318057.1         128-159
            33-2076             AB033010.1         1-2044
            2077-2985           BC002937.2         1988-2896
            2986-2987           BC036457.2         3016-3017
FEATURES             Location/Qualifiers
     source          1..2987
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..2987
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /note="PNKD metallo-beta-lactamase domain containing"
                     /db_xref="GeneID:25953"
                     /db_xref="HGNC:HGNC:9153"
                     /db_xref="MIM:609023"
     exon            1..84
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             18..1175
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /EC_number="3.1.2.6"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; probable hydrolase PNKD; trans-activated by
                     hepatitis C virus core protein 2; myofibrillogenesis
                     regulator 1; brain protein 17; PNKD, MBL domain
                     containing"
                     /codon_start=1
                     /product="probable hydrolase PNKD isoform 1 precursor"
                     /protein_id="NP_056303.3"
                     /db_xref="CCDS:CCDS2411.1"
                     /db_xref="GeneID:25953"
                     /db_xref="HGNC:HGNC:9153"
                     /db_xref="MIM:609023"
                     /translation="MAAVVAATALKGRGARNARVLRGILAGATANKASHNRTRALQSH
                     SSPEGKEEPEPLSPELEYIPRKRGKNPMKAVGLAWYSLYTRTWLGYLFYRQQLRRARN
                     RYPKGHSKTQPRLFNGVKVLPIPVLSDNYSYLIIDTQAQLAVAVDPSDPRAVQASIEK
                     EGVTLVAILCTHKHWDHSGGNRDLSRRHRDCRVYGSPQDGIPYLTHPLCHQDVVSVGR
                     LQIRALATPGHTQGHLVYLLDGEPYKGPSCLFSGDLLFLSGCGRTFEGNAETMLSSLD
                     TVLGLGDDTLLWPGHEYAEENLGFAGVVEPENLARERKMQWVQRQRLERKGTCPSTLG
                     EERSYNPFLRTHCLALQEALGPGPGPTGDDDYSRAQLLEELRRLKDMHKSK"
     exon            85..253
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /inference="alignment:Splign:2.1.0"
     exon            254..369
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /inference="alignment:Splign:2.1.0"
     exon            370..482
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /inference="alignment:Splign:2.1.0"
     exon            483..541
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /inference="alignment:Splign:2.1.0"
     exon            542..634
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /inference="alignment:Splign:2.1.0"
     exon            635..798
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /inference="alignment:Splign:2.1.0"
     exon            799..885
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /inference="alignment:Splign:2.1.0"
     exon            886..1001
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1002..2987
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2953..2958
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /note="hexamer: AATAAA"
     regulatory      2964..2969
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /note="hexamer: AATGAA"
     regulatory      2968..2973
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /note="hexamer: AATGAA"
     polyA_site      2973
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /note="major polyA site"
     polyA_site      2981
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /note="major polyA site"
     polyA_site      2987
                     /gene="PNKD"
                     /gene_synonym="BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1;
                     MR-1S; MR1; PDC; PKND1; PNKD1; R1; TAHCCP2"
                     /note="major polyA site"
ORIGIN      
        1 gggggtggga tctgaacatg gcggcggtgg tagctgctac ggcgctgaag ggccgggggg
       61 cgagaaatgc ccgcgtcctc cgggggattc tcgcaggagc cacagctaac aaggcttctc
      121 ataacaggac ccgggccctg caaagccaca gctccccaga gggcaaggag gaacctgaac
      181 ccctatcccc ggagctggaa tacattccca gaaagagggg caagaacccc atgaaagctg
      241 tgggactggc ctggtacagc ctgtacaccc gcacctggct cgggtacctc ttctaccgac
      301 agcagctgcg cagggctcgg aatcgctacc ctaaaggcca ctcgaaaacc cagccccgcc
      361 tcttcaatgg agtgaaggtg cttcccatcc ctgtcctctc ggacaactac agctacctca
      421 tcatcgacac ccaggcccag ctggctgtgg ctgtggaccc ttcagaccct cgggctgtgc
      481 aggcttccat tgaaaaggaa ggggtcacct tggtcgccat tctgtgtact cacaagcact
      541 gggaccacag tggagggaac cgtgacctca gccggcggca ccgggactgt cgggtgtacg
      601 ggagccctca ggacggcatc ccctacctca cccatcccct gtgtcatcaa gatgtggtca
      661 gcgtgggacg gcttcagatc cgggccctgg ctacacctgg ccacacacaa ggccatctgg
      721 tctacctact ggatggggag ccctacaagg gtccctcctg cctcttctca ggggacctgc
      781 tcttcctctc tggctgtggg cggacctttg agggcaatgc agagaccatg ctgagctcac
      841 tggacactgt gctggggcta ggggatgaca cccttctgtg gcctggtcat gagtatgcag
      901 aggagaacct gggctttgca ggtgtggtgg agcccgagaa cctggcccgg gagaggaaga
      961 tgcagtgggt gcagcggcag cggctggagc gcaagggcac gtgcccatct accctgggag
     1021 aggagcgctc ctacaacccg ttcctgagaa cccactgcct ggcgctacag gaggctctgg
     1081 ggccggggcc gggccccact ggggatgatg actactcccg ggcccagctc ctggaagagc
     1141 tccgccggct gaaggatatg cacaagagca agtgatgccc ccagcgcccc cagcccagcc
     1201 cactccccgc atggggaggc cgccaccacc aacacctcat catccttctc atcgctaaca
     1261 ccaccacctc catcggcacc caagcgggca tcatcccccc acactgctca ggggagggga
     1321 gggatcaggc gatgagactg tgaggccaaa agaagggggc ctgttggagg ctgggaaccc
     1381 cgcagcgcga ggctgcctca tcaacggcaa gaggaaagga ggggtctcgg gacatctcca
     1441 gaccctacca actgggaggg tcccctcctc cttccctact cctgggacgg cagcaaggac
     1501 atgggggctg ctgttagctt ctccgtcagg aggcctcatc tcactgtagc cctggaaccc
     1561 agggtccatc ttgcccttcc cccatccatg gttgggaaag aagctcagcc cctcacagtg
     1621 gcctcaagtg tgatgcctta caaaagcacc actcagatgg gcagctggac tctggtgtcc
     1681 tgagactctg ccctcttccc acagcctccc tgccccaccc atccctgcaa agccattttt
     1741 cagacagagc cattcctaag aacactgaag ggctggaatg ctggctggcc actctctgcc
     1801 tcagtggcct ccctacagcc tggaagaagg agggtcctga ttgccaagga aacctcctca
     1861 ttgggctaag gagacactgg agtctggagt gtggagcccc acagtcttgc aggtcacatg
     1921 ctctccttgc acatctggcc tggttgtacc cactggcctc tgcctctgcc ctgggccaaa
     1981 agggcccctc cttgccaggg gagagacagc cacggtcctc tttggccgat gctgtattct
     2041 cattttggcc cttgttctta ggcccgtctg cccgccttcc tccatctaac ctttcctgtt
     2101 ttatccgcag cccttttctt ctttgagtta gtaaagattt attctgtaac ctgacactca
     2161 tctggccctt tgcagtttgc cagccatatt cccatgtgat ttcccactgg atccaggccc
     2221 ccatccggct ggcaggaggg ggctctgacg tgcaggttgg aaatcagaag tctgtgagag
     2281 cgcgggagtg catggcagct ctgggtccca gacctggccc gacccctctg cttcacctcc
     2341 agctctgctg ctcctctact cttgggtcga gatccctttg gagccacagc gaggaaccct
     2401 gtggtcctca ggcaggtgta ccttgagtca gccaggagcc ctcttttcct gtgtcaaagc
     2461 ctgccctcgg gctctgctca cctctggtga ccctccaaga tgcccctgcc ctcagtttcc
     2521 cctcatgatc tggcctctgc ccccttctct agccacagcc tctagtacac tttagcaata
     2581 ccaccagact agttagagtt ccccactcac caagcaagac atgcagtttc atgcctctgt
     2641 gccttcgctc atgctgtttc ttccgactgg aatgccttcc cctgctcctc ctgccttgtc
     2701 tgcctggcaa gttcatctct cacgatcccc tcaaaggccc cctcctccag gaaggcaacc
     2761 cctgtgcccc tcccctccag gctacctctg cactttgtca atgcttctct tgtggcactt
     2821 atcacactgt attttacttg tttacatgtt tgtctcccct tctagactgt gaatccttaa
     2881 gggcatggac tgtatcttat gcatctctgt atttctgcgc ctagcacggt gcctagcaca
     2941 cagtaggcgc tcaataaatg ttgaatgaat gaatgattta atcaaga
//
