LOCUS       NM_001030307            2803 bp    mRNA    linear   ROD 03-APR-2024
DEFINITION  Mus musculus dyskeratosis congenita 1, dyskerin (Dkc1), transcript
            variant 3, mRNA.
ACCESSION   NM_001030307 XM_903794
VERSION     NM_001030307.2
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 2803)
  AUTHORS   Yang,J., Liu,X., Zhao,Y., Dong,W., Xue,Y., Ruan,X., Wang,P.,
            Liu,L., E,T., Song,J., Cui,Z. and Liu,Y.
  TITLE     Mechanism of Dcp2/RNCR3/Dkc1/Snora62 axis regulating neuronal
            apoptosis in chronic cerebral ischemia
  JOURNAL   Cell Biol Toxicol 39 (6), 2881-2898 (2023)
   PUBMED   37097350
  REMARK    GeneRIF: Mechanism of Dcp2/RNCR3/Dkc1/Snora62 axis regulating
            neuronal apoptosis in chronic cerebral ischemia.
REFERENCE   2  (bases 1 to 2803)
  AUTHORS   Wang,X.H., Zhang,S.F., Wu,H.Y., Gao,J., Wang,L., Wang,X.H. and
            Gao,T.H.
  TITLE     miRNA326-5p Targets DKC1 Gene to Regulate Apoptosis-Related
            Proteins and Intervene in the Development of Neuroblastoma
  JOURNAL   Anal Cell Pathol (Amst) 2023, 6761894 (2023)
   PUBMED   37426487
  REMARK    GeneRIF: miRNA326-5p Targets DKC1 Gene to Regulate
            Apoptosis-Related Proteins and Intervene in the Development of
            Neuroblastoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2803)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2803)
  AUTHORS   Nelson,N.D. and Bertuch,A.A.
  TITLE     Dyskeratosis congenita as a disorder of telomere maintenance
  JOURNAL   Mutat Res 730 (1-2), 43-51 (2012)
   PUBMED   21745483
  REMARK    Review article
REFERENCE   5  (bases 1 to 2803)
  AUTHORS   Mason,P.J. and Bessler,M.
  TITLE     The genetics of dyskeratosis congenita
  JOURNAL   Cancer Genet 204 (12), 635-645 (2011)
   PUBMED   22285015
  REMARK    Review article
REFERENCE   6  (bases 1 to 2803)
  AUTHORS   Dokal,I.
  TITLE     Dyskeratosis congenita
  JOURNAL   Hematology Am Soc Hematol Educ Program 2011, 480-486 (2011)
   PUBMED   22160078
  REMARK    Review article
REFERENCE   7  (bases 1 to 2803)
  AUTHORS   Savage,S.A. and Bertuch,A.A.
  TITLE     The genetics and clinical manifestations of telomere biology
            disorders
  JOURNAL   Genet Med 12 (12), 753-764 (2010)
   PUBMED   21189492
  REMARK    Review article
REFERENCE   8  (bases 1 to 2803)
  AUTHORS   Salowsky,R., Heiss,N.S., Benner,A., Wittig,R. and Poustka,A.
  TITLE     Basal transcription activity of the dyskeratosis congenita gene is
            mediated by Sp1 and Sp3 and a patient mutation in a Sp1 binding
            site is associated with decreased promoter activity
  JOURNAL   Gene 293 (1-2), 9-19 (2002)
   PUBMED   12137939
REFERENCE   9  (bases 1 to 2803)
  AUTHORS   Heiss,N.S., Bachner,D., Salowsky,R., Kolb,A., Kioschis,P. and
            Poustka,A.
  TITLE     Gene structure and expression of the mouse dyskeratosis congenita
            gene, dkc1
  JOURNAL   Genomics 67 (2), 153-163 (2000)
   PUBMED   10903840
REFERENCE   10 (bases 1 to 2803)
  AUTHORS   Yang,Y., Isaac,C., Wang,C., Dragon,F., Pogacic,V. and Meier,U.T.
  TITLE     Conserved composition of mammalian box H/ACA and box C/D small
            nucleolar ribonucleoprotein particles and their interaction with
            the common factor Nopp140
  JOURNAL   Mol Biol Cell 11 (2), 567-577 (2000)
   PUBMED   10679015
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY126448.1, AK136418.1 and AL808110.7.
            
            On Oct 31, 2009 this sequence version replaced NM_001030307.1.
            
            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 :: BC068171.1, AK167973.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849380, SAMN00849384
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-216               BY126448.1         1-216
            217-2427            AK136418.1         2-2212
            2428-2803           AL808110.7         59603-59978
FEATURES             Location/Qualifiers
     source          1..2803
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 38.15 cM"
     gene            1..2803
                     /gene="Dkc1"
                     /note="dyskeratosis congenita 1, dyskerin"
                     /db_xref="GeneID:245474"
                     /db_xref="MGI:MGI:1861727"
     exon            1..274
                     /gene="Dkc1"
                     /inference="alignment:Splign:2.1.0"
     CDS             259..1788
                     /gene="Dkc1"
                     /note="isoform 3 is encoded by transcript variant 3; h/ACA
                     ribonucleoprotein complex subunit 4; dyskerin; snoRNP
                     protein DKC1; nucleolar protein NAP57; nucleolar protein
                     family A member 4; nopp140-associated protein of 57 kDa;
                     dyskeratosis congenita 1, dyskerin homolog; H/ACA
                     ribonucleoprotein complex subunit DKC1"
                     /codon_start=1
                     /product="H/ACA ribonucleoprotein complex subunit DKC1
                     isoform 3"
                     /protein_id="NP_001025478.1"
                     /db_xref="CCDS:CCDS41029.1"
                     /db_xref="GeneID:245474"
                     /db_xref="MGI:MGI:1861727"
                     /translation="MADAEVITFPKKHKKKKDRKPLQEDDVAEIQHAEEFLIKPESKV
                     AQLDTSQWPLLLKNFDKLNVRTAHYTPLPCGSNPLKREIGDYIRTGFINLDKPSNPSS
                     HEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLH
                     NAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWV
                     SCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNH
                     KDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGLLRYEDGIEVNQEIV
                     VITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKMM
                     IKQGLLDKHGKPTDNTPATWKQDYIDYSDSGKNTLVTEAVQAPQLAAEAVNVIKRKRD
                     SESESDETPTVPQLKEKKKKKDKKPKTVLESGGETGDGDNDTTKKKKKKKVKVVEEMS
                     E"
     exon            275..342
                     /gene="Dkc1"
                     /inference="alignment:Splign:2.1.0"
     exon            343..429
                     /gene="Dkc1"
                     /inference="alignment:Splign:2.1.0"
     exon            430..521
                     /gene="Dkc1"
                     /inference="alignment:Splign:2.1.0"
     exon            522..706
                     /gene="Dkc1"
                     /inference="alignment:Splign:2.1.0"
     exon            707..771
                     /gene="Dkc1"
                     /inference="alignment:Splign:2.1.0"
     exon            772..898
                     /gene="Dkc1"
                     /inference="alignment:Splign:2.1.0"
     exon            899..1029
                     /gene="Dkc1"
                     /inference="alignment:Splign:2.1.0"
     exon            1030..1173
                     /gene="Dkc1"
                     /inference="alignment:Splign:2.1.0"
     exon            1174..1294
                     /gene="Dkc1"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..1413
                     /gene="Dkc1"
                     /inference="alignment:Splign:2.1.0"
     exon            1414..1517
                     /gene="Dkc1"
                     /inference="alignment:Splign:2.1.0"
     exon            1518..1596
                     /gene="Dkc1"
                     /inference="alignment:Splign:2.1.0"
     exon            1597..1722
                     /gene="Dkc1"
                     /inference="alignment:Splign:2.1.0"
     exon            1723..2803
                     /gene="Dkc1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ggtcacacct ccgtggccga atcagccaat gggattgagt agacagtccg cgggttcgta
       61 gagattcctg cccccgtacc ccgtcctgtc ctcctcctcc tcctcctctt ctctacgtcc
      121 cttttttata tcagcaagct aggggcggtg caacggtggg cgggtcctaa tgacgtgccc
      181 ggacgggtct cacaccatag gagtctacag ttcttagttt gtggcggctt gggcgggacg
      241 cacgcggtgc agttcaagat ggcggatgca gaagtaatta cattcccaaa gaagcataag
      301 aagaaaaaag accggaagcc attacaagaa gatgatgttg ccgaaataca acatgctgaa
      361 gaatttctta tcaaaccaga atctaaagtg gctcaattag acacttctca gtggcccttg
      421 ttactaaaga attttgataa gctaaatgta aggacagcac actatacacc tcttccttgt
      481 ggttcaaatc ctctgaagag ggagattggg gactatatca ggaccggttt cattaatctt
      541 gacaagccct ctaacccctc ttcccatgag gtggtagcct ggatccgacg aatacttcgg
      601 gtagagaaga ctggccacag tggcacacta gatcccaaag tgactggttg tttaattgtg
      661 tgcattgaac gagccactcg tttggtgaaa tcacaacaga gtgcaggcaa agagtatgtt
      721 ggaattgtcc ggctgcacaa tgctattgaa gggggtactc agctttctag ggccctagaa
      781 actctgacag gtgccctgtt tcagcgaccc ccacttattg ctgcagtaaa gaggcagctt
      841 cgagtgagga ctatctacga gagcaaaatg atagaatatg atcctgagag aagattagga
      901 atcttttggg taagctgtga agctggcacc tacattcgga cactatgcgt acaccttggc
      961 ttgttactgg gagttggtgg tcagatgcag gaacttcgga gggtgcgttc tggagtcatg
     1021 agtgaaaagg accacatggt gacaatgcat gatgtactcg atgctcagtg gctgtatgat
     1081 aaccataagg atgagagtta cttgcggcgt gttgtttacc ctttggaaaa gctgttgaca
     1141 tctcataaac gtctggttat gaaagatagt gcagtgaatg caatctgcta tggggccaag
     1201 atcatgcttc ctggtcttct tcgatatgaa gatggcattg aggtcaacca ggagattgtg
     1261 gtcattacta ctaaggggga agctatctgc atggcaattg cattgatgac tacagcagtg
     1321 atttctacct gtgaccatgg tatagtagcc aaaataaaga gggtgatcat ggagagagac
     1381 acttatcctc gcaagtgggg tttaggtcca aaggcaagtc agaagaagat gatgatcaag
     1441 cagggccttc tggacaagca tggcaaaccc acagacaata cccctgccac atggaaacag
     1501 gattacattg actatagtga ttctggcaag aacacactgg ttaccgaagc agtacaagcc
     1561 cctcagttag ctgctgaagc agtaaatgtc ataaaaagga agcgggatag tgagagtgaa
     1621 agtgatgaga ccccaacagt tccccagttg aaggaaaaga agaagaagaa ggataagaag
     1681 cccaaaactg tgctagaaag tgggggcgaa actggagatg gggacaacga caccaccaaa
     1741 aagaaaaaga agaagaaagt aaaagtggta gaagagatgt ctgaatagtt taagccactt
     1801 ctggaagcat tatgtccagc tgggaagaaa aagaaaagcc ttattggaaa aactttttgt
     1861 tgagggagaa cagaggtccc agagtagaaa gttctggtat acttttagct gccacttgtg
     1921 acctcagtgg ttagctggtg tggccatctc atcccatcct gtcctgtttt aaggatatga
     1981 gagataaaat caggcctttg ccaccaaccc ctctgcttgc ttgaggaagc cacaccttta
     2041 gacatggcat ggcctagtaa ctatctgcag ctatttacta atgagcattt tcaacaatgc
     2101 catagatagt cctctcctac tttgcttttt aaaaagttgg taaaaattaa atctgctaca
     2161 taaaatggta tagaaccttc tgtgagagaa aaaatgtaat tgaactatgt tcactggggg
     2221 actcttatct ccagtgttct atgaggactg ctctattcag gtattaacct tgcctggtgg
     2281 tatctatgat atttaggcta gtactctgta tttttgtgta caacaggatt tctctatatg
     2341 gctacttgtg tttcttatgg aagccaaagc attcctgtac cttcctattt gttttctttt
     2401 aaagaatgga attgccgggc gtggtggcgc atgcctttaa tcccagcact tgggaggcag
     2461 aggcaggtgg atttctgagt tcaaagccag cctggtctac agagtgagtt ccaggacagt
     2521 ccaggctata cagagaaacc ctgtctcgaa aaaaaaaaaa ccaaaaaaac aaaaaacaaa
     2581 acaaaaaaac caaaaaacaa aaaaaacaaa aaaaaaaaca aaaaaacaaa aaaagaaaaa
     2641 aaaaagaatg gaattgttca gaatggaatt gttcattgct gaagaatgta atttgtagtt
     2701 tttttttttt taaaaagtat tcctgttaga tttactatga taatcttgga ctggcaacaa
     2761 aagtgagaga atatttttat taaaagtctg aggtttatgt cct
//
