LOCUS       NM_004943               3410 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens DM1 locus, WD repeat containing (DMWD), mRNA.
ACCESSION   NM_004943 XM_496318
VERSION     NM_004943.2
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 3410)
  AUTHORS   Olazabal-Herrero,A., Bilbao-Arribas,M., Carlevaris,O., Sendino,M.,
            Varela-Martinez,E., Jugo,B.M., Berra,E. and Rodriguez,J.A.
  TITLE     The dystrophia myotonica WD repeat-containing protein DMWD and
            WDR20 differentially regulate USP12 deubiquitinase
  JOURNAL   FEBS J 288 (20), 5943-5963 (2021)
   PUBMED   33844468
REFERENCE   2  (bases 1 to 3410)
  AUTHORS   Santoro,M., Masciullo,M., Silvestri,G., Novelli,G. and Botta,A.
  TITLE     Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions
            within DMPK alleles in the pathogenesis and molecular diagnosis
  JOURNAL   Clin Genet 92 (4), 355-364 (2017)
   PUBMED   27991661
  REMARK    Review article
REFERENCE   3  (bases 1 to 3410)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   4  (bases 1 to 3410)
  AUTHORS   Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
            Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   5  (bases 1 to 3410)
  AUTHORS   Grimwood,J., Gordon,L.A., Olsen,A., Terry,A., Schmutz,J.,
            Lamerdin,J., Hellsten,U., Goodstein,D., Couronne,O.,
            Tran-Gyamfi,M., Aerts,A., Altherr,M., Ashworth,L., Bajorek,E.,
            Black,S., Branscomb,E., Caenepeel,S., Carrano,A., Caoile,C.,
            Chan,Y.M., Christensen,M., Cleland,C.A., Copeland,A., Dalin,E.,
            Dehal,P., Denys,M., Detter,J.C., Escobar,J., Flowers,D.,
            Fotopulos,D., Garcia,C., Georgescu,A.M., Glavina,T., Gomez,M.,
            Gonzales,E., Groza,M., Hammon,N., Hawkins,T., Haydu,L., Ho,I.,
            Huang,W., Israni,S., Jett,J., Kadner,K., Kimball,H., Kobayashi,A.,
            Larionov,V., Leem,S.H., Lopez,F., Lou,Y., Lowry,S., Malfatti,S.,
            Martinez,D., McCready,P., Medina,C., Morgan,J., Nelson,K.,
            Nolan,M., Ovcharenko,I., Pitluck,S., Pollard,M., Popkie,A.P.,
            Predki,P., Quan,G., Ramirez,L., Rash,S., Retterer,J., Rodriguez,A.,
            Rogers,S., Salamov,A., Salazar,A., She,X., Smith,D., Slezak,T.,
            Solovyev,V., Thayer,N., Tice,H., Tsai,M., Ustaszewska,A., Vo,N.,
            Wagner,M., Wheeler,J., Wu,K., Xie,G., Yang,J., Dubchak,I.,
            Furey,T.S., DeJong,P., Dickson,M., Gordon,D., Eichler,E.E.,
            Pennacchio,L.A., Richardson,P., Stubbs,L., Rokhsar,D.S.,
            Myers,R.M., Rubin,E.M. and Lucas,S.M.
  TITLE     The DNA sequence and biology of human chromosome 19
  JOURNAL   Nature 428 (6982), 529-535 (2004)
   PUBMED   15057824
REFERENCE   6  (bases 1 to 3410)
  AUTHORS   Groenen,P. and Wieringa,B.
  TITLE     Expanding complexity in myotonic dystrophy
  JOURNAL   Bioessays 20 (11), 901-912 (1998)
   PUBMED   9872056
  REMARK    Review article
REFERENCE   7  (bases 1 to 3410)
  AUTHORS   Jansen,G., Bachner,D., Coerwinkel,M., Wormskamp,N., Hameister,H.
            and Wieringa,B.
  TITLE     Structural organization and developmental expression pattern of the
            mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic
            dystrophy locus
  JOURNAL   Hum Mol Genet 4 (5), 843-852 (1995)
   PUBMED   7633444
REFERENCE   8  (bases 1 to 3410)
  AUTHORS   Shaw,D.J., McCurrach,M., Rundle,S.A., Harley,H.G., Crow,S.R.,
            Sohn,R., Thirion,J.P., Hamshere,M.G., Buckler,A.J., Harper,P.S. et
            al.
  TITLE     Genomic organization and transcriptional units at the myotonic
            dystrophy locus
  JOURNAL   Genomics 18 (3), 673-679 (1993)
   PUBMED   7905855
REFERENCE   9  (bases 1 to 3410)
  AUTHORS   Mahadevan,M.S., Amemiya,C., Jansen,G., Sabourin,L., Baird,S.,
            Neville,C.E., Wormskamp,N., Segers,B., Batzer,M., Lamerdin,J. et
            al.
  TITLE     Structure and genomic sequence of the myotonic dystrophy (DM
            kinase) gene
  JOURNAL   Hum Mol Genet 2 (3), 299-304 (1993)
   PUBMED   8499920
REFERENCE   10 (bases 1 to 3410)
  AUTHORS   Jansen,G., Mahadevan,M., Amemiya,C., Wormskamp,N., Segers,B.,
            Hendriks,W., O'Hoy,K., Baird,S., Sabourin,L., Lennon,G. et al.
  TITLE     Characterization of the myotonic dystrophy region predicts multiple
            protein isoform-encoding mRNAs
  JOURNAL   Nat Genet 1 (4), 261-266 (1992)
   PUBMED   1302022
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC011530.6, BM922103.1, L19267.1, BG106514.1, BC019266.1,
            CD106470.1, BX283745.1, BC041034.1 and BQ189202.1.
            
            On Nov 22, 2018 this sequence version replaced NM_004943.1.
            
            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 :: L19267.1, ERR3218378.45696.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000270223.7/ ENSP00000270223.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-43                AC011530.6         16064-16106
            44-455              BM922103.1         1-412
            456-943             L19267.1           1-488
            944-1304            BG106514.1         93-453
            1305-1339           L19267.1           853-887
            1340-1450           BC019266.1         380-490
            1451-1991           CD106470.1         61-601
            1992-2479           L19267.1           1540-2027
            2480-2751           BX283745.1         218-489
            2752-3188           L19267.1           2299-2735
            3189-3348           BC041034.1         478-637
            3349-3351           BQ189202.1         581-583
            3352-3410           AC011530.6         25904-25962
FEATURES             Location/Qualifiers
     source          1..3410
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..3410
                     /gene="DMWD"
                     /gene_synonym="D19S593E; DMR-N9; DMRN9; gene59"
                     /note="DM1 locus, WD repeat containing"
                     /db_xref="GeneID:1762"
                     /db_xref="HGNC:HGNC:2936"
                     /db_xref="MIM:609857"
     exon            1..530
                     /gene="DMWD"
                     /gene_synonym="D19S593E; DMR-N9; DMRN9; gene59"
                     /inference="alignment:Splign:2.1.0"
     CDS             90..2114
                     /gene="DMWD"
                     /gene_synonym="D19S593E; DMR-N9; DMRN9; gene59"
                     /note="protein 59; dystrophia myotonica-containing WD
                     repeat motif protein; dystrophia myotonica, WD repeat
                     containing"
                     /codon_start=1
                     /product="dystrophia myotonica WD repeat-containing
                     protein"
                     /protein_id="NP_004934.1"
                     /db_xref="CCDS:CCDS33054.1"
                     /db_xref="GeneID:1762"
                     /db_xref="HGNC:HGNC:2936"
                     /db_xref="MIM:609857"
                     /translation="MAAGGAEGGSGPGAAMGDCAEIKSQFRTREGFYKLLPGDGAARR
                     SGPASAQTPVPPQPPQPPPGPASASGPGAAGPASSPPPAGPGPGPALPAVRLSLVRLG
                     EPDSAGAGEPPATPAGLGSGGDRVCFNLGRELYFYPGCCRRGSQRSIDLNKPIDKRIY
                     KGTQPTCHDFNQFTAATETISLLVGFSAGQVQYLDLIKKDTSKLFNEERLIDKTKVTY
                     LKWLPESESLFLASHASGHLYLYNVSHPCASAPPQYSLLKQGEGFSVYAAKSKAPRNP
                     LAKWAVGEGPLNEFAFSPDGRHLACVSQDGCLRVFHFDSMLLRGLMKSYFGGLLCVCW
                     SPDGRYVVTGGEDDLVTVWSFTEGRVVARGHGHKSWVNAVAFDPYTTRAEEAATAAGA
                     DGERSGEEEEEEPEAAGTGSAGGAPLSPLPKAGSITYRFGSAGQDTQFCLWDLTEDVL
                     YPHPPLARTRTLPGTPGTTPPAASSSRGGEPGPGPLPRSLSRSNSLPHPAGGGKAGGP
                     GVAAEPGTPFSIGRFATLTLQERRDRGAEKEHKRYHSLGNISRGGSGGSGSGGEKPSG
                     PVPRSRLDPAKVLGTALCPRIHEVPLLEPLVCKKIAQERLTVLLFLEDCIITACQEGL
                     ICTWARPGKAFTDEETEAQTGEGSWPRSPSKSVVEGISSQPGNSPSGTVV"
     exon            531..713
                     /gene="DMWD"
                     /gene_synonym="D19S593E; DMR-N9; DMRN9; gene59"
                     /inference="alignment:Splign:2.1.0"
     exon            714..1991
                     /gene="DMWD"
                     /gene_synonym="D19S593E; DMR-N9; DMRN9; gene59"
                     /inference="alignment:Splign:2.1.0"
     exon            1992..2066
                     /gene="DMWD"
                     /gene_synonym="D19S593E; DMR-N9; DMRN9; gene59"
                     /inference="alignment:Splign:2.1.0"
     exon            2067..3410
                     /gene="DMWD"
                     /gene_synonym="D19S593E; DMR-N9; DMRN9; gene59"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2576
                     /gene="DMWD"
                     /gene_synonym="D19S593E; DMR-N9; DMRN9; gene59"
     regulatory      2606..2611
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DMWD"
                     /gene_synonym="D19S593E; DMR-N9; DMRN9; gene59"
                     /note="hexamer: ACTAAA"
     polyA_site      2627
                     /gene="DMWD"
                     /gene_synonym="D19S593E; DMR-N9; DMRN9; gene59"
                     /note="major polyA site"
     regulatory      3379..3384
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DMWD"
                     /gene_synonym="D19S593E; DMR-N9; DMRN9; gene59"
                     /note="hexamer: TATAAA"
     polyA_site      3410
                     /gene="DMWD"
                     /gene_synonym="D19S593E; DMR-N9; DMRN9; gene59"
ORIGIN      
        1 accttttccg gcgcgggcca gcggcttccg ggagggggcc cggctgcggg cggcagtccg
       61 gcagtggcgg ggcccggggg gcgcccaaga tggcggcggg cggcgcggag ggcggctcgg
      121 gccccggcgc cgccatgggg gactgcgcgg agattaagtc gcaattccgc acgcgcgagg
      181 gtttctacaa gctactcccg ggcgacggcg ccgctcgcag gtcgggtccg gcttccgccc
      241 agactccggt gccgcctcag ccaccgcagc ccccgcccgg ccctgcctcc gcctccggtc
      301 ccggcgctgc aggccccgcg tcgtccccgc cgcccgcagg ccccggaccc gggcccgccc
      361 tgcccgccgt gcgcctcagc ctcgtgcgcc tcggggagcc ggacagcgcc ggggccgggg
      421 agccgcccgc cacgcccgcg gggctgggct cggggggaga ccgcgtctgc ttcaacttgg
      481 gccgtgagct ctatttctac ccaggctgct gtcgtcgtgg gagccaacgg tccattgacc
      541 tcaacaagcc aattgacaag cggatctaca agggcaccca gcccacctgc cacgatttca
      601 accagttcac tgctgccacc gagaccatct cgctgctggt gggcttctca gcgggtcaag
      661 tgcagtacct ggatctcatc aaaaaggaca ccagcaagct gttcaatgag gagcggttga
      721 tcgacaagac caaggtgaca tatctgaagt ggctgcctga gtcggagagc ctgttcctgg
      781 catcacacgc cagtggccac ctgtacctgt acaacgtcag ccacccctgc gcctcggccc
      841 cgccccagta cagcctgctg aagcagggcg agggcttctc tgtctatgct gccaagagca
      901 aggcaccccg caacccgctg gccaagtggg cggtgggtga ggggcccctc aacgagttcg
      961 ccttctcgcc cgatggccgg cacctggcct gtgtgagcca ggatggctgc ctgcgcgtct
     1021 tccacttcga ctccatgctc ctgcgtgggc tcatgaagag ctactttggg ggcctgctgt
     1081 gtgtgtgctg gagccctgac ggccgctacg tggtgacggg tggcgaagat gacctggtca
     1141 ccgtgtggtc cttcaccgag ggccgcgtgg tggctcgagg ccatggccac aagtcctggg
     1201 tcaacgctgt ggcctttgac ccctacacca caagggcaga ggaggcggcg acagcagccg
     1261 gtgctgatgg ggagcggagc ggcgaagagg aggaggagga gcccgaggct gcgggcacag
     1321 gctcggccgg gggcgccccg ctctctccac tgcccaaggc tggctccatt acttaccgct
     1381 ttggctcggc gggccaggac acgcagttct gcctgtggga cctcactgaa gacgtgctct
     1441 acccgcaccc ccccctggcc cgcacccgca ccctccctgg cacacctggc accacgccac
     1501 cggccgccag cagctcgagg ggtggcgagc ctggcccagg ccccctgcct cgctcgctgt
     1561 cccgctccaa cagtctcccg cacccagctg gcgggggcaa ggcgggcggc ccgggtgtgg
     1621 cggcagagcc tggcacacca ttcagcattg gccgcttcgc cacgctcaca ctgcaggagc
     1681 ggcgggaccg gggggcagag aaggagcaca agcgctacca cagcctgggc aacatcagcc
     1741 ggggtggcag tggcggcagt ggcagtggtg gggagaagcc cagcggccct gttccccgca
     1801 gccgcctgga ccccgccaag gtgctgggca ctgcgctgtg cccgcgcatc cacgaggtgc
     1861 ccctgctgga gccccttgtg tgcaagaaga tcgcccagga gcggctcaca gtcctcctgt
     1921 tcctggagga ctgcatcatc actgcctgcc aggagggcct catctgcacc tgggcccggc
     1981 cgggcaaggc gttcacagac gaggagaccg aggcccagac aggggaagga agttggccca
     2041 ggtcacccag caagtcagtg gtagagggca tctcctccca accaggcaac tccccgagtg
     2101 gcacagtggt gtgaagccat ggatatcggg cccccccaac cccatgcccc cagcctccta
     2161 gccataaccc tccctgctga cctcacagat caacgtatta acaagactaa ccatgatgga
     2221 tggactgctc cagtcccccc acctgcacaa aatttggggg ccccccagac tggcccggac
     2281 acgggcgatg taatagccct tgtggcctca gccttgtccc ccacccactg ccaagtacaa
     2341 tgacctcttc ctctgaaaca tcagtgttac cctcatccct gtccccagca tgtgactggt
     2401 cactcctggg gagagactcc ccgcccctgc cacaagagcc ccaggtctgc agtgtgcccc
     2461 tcagttgagt gggcagggcc gggggtggtc cagccctcgc ccggccccca ccccagctgc
     2521 ccttgctatt gtctgtgctt ttgaagagtg ttaaattatg gaagcccctc aggttcctcc
     2581 ctgtcccgca ggacctctta tttatactaa agttccctgt tttctcagcg ggtctgtccc
     2641 cttcggagga gatgatgtag aggacctgtg tgtgtactct gtggttctag gcagtccgct
     2701 ttccccagag gaggagtgca ggcctgctcc cagcccagcg cctcccaccc cttttcatag
     2761 caggaaaagc cggagcccag ggagggaacg gacctgcgag tcacacaact ggtgacccac
     2821 accagcggct ggagcaggac cctcttgggg agaagagcat cctgcccgca gccagggccc
     2881 ctcatcaaag tcctcggtgt tttttaaatt atcagaactg cccaggacca cgtttcccag
     2941 gccctgccca gctgggactc ctcggtcctt gcctcctagt ttctcaggcc tggccctctc
     3001 aaggcccagg caccccaggc cggttggagg ccccgacttc cactctggag aaccgtccac
     3061 cctggaaaga agagctcaga ttcctcttgg ctctcggagc cgcagggagt gtgtcttccc
     3121 gcgccaccct ccaccccccg aaatgtttct gtttctaatc ccagcctggg caggaatgtg
     3181 gctccccggc caggggccaa ggagctattt tggggtctcg tttgcccagg gagggcttgg
     3241 ctccaccact ttcctccccc agcctttggg cagcaggtca cccctgttca ggctctgagg
     3301 gtgccccctc ctggtcctgt cctcaccacc ccttccccac ctcctgggaa aaaaaaaaaa
     3361 aaaaaaaaaa aaagctggta taaagcagag agcctgaggg ctaaatttaa
//
