LOCUS       BC009928                2580 bp    mRNA    linear   HUM 15-JUL-2006
DEFINITION  Homo sapiens dyskeratosis congenita 1, dyskerin, mRNA (cDNA clone
            MGC:4843 IMAGE:3604732), complete cds.
ACCESSION   BC009928
VERSION     BC009928.2
KEYWORDS    MGC.
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 2580)
  AUTHORS   Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G.,
            Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D.,
            Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K.,
            Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F.,
            Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L.,
            Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L.,
            Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S.,
            Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J.,
            Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J.,
            McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S.,
            Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W.,
            Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A.,
            Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S.,
            Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y.,
            Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D.,
            Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M.,
            Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E.,
            Schnerch,A., Schein,J.E., Jones,S.J. and Marra,M.A.
  CONSRTM   Mammalian Gene Collection Program Team
  TITLE     Generation and initial analysis of more than 15,000 full-length
            human and mouse cDNA sequences
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 99 (26), 16899-16903 (2002)
   PUBMED   12477932
REFERENCE   2  (bases 1 to 2580)
  CONSRTM   NIH MGC Project
  TITLE     Direct Submission
  JOURNAL   Submitted (02-JUL-2001) National Institutes of Health, Mammalian
            Gene Collection (MGC), Bethesda, MD 20892-2590, USA
  REMARK    NIH-MGC Project URL: http://mgc.nci.nih.gov
COMMENT     On Aug 19, 2003 this sequence version replaced BC009928.1.
            Contact: MGC help desk
            Email: cgapbs-r@mail.nih.gov
            Tissue Procurement: ATCC
            cDNA Library Preparation: Rubin Laboratory
            cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL)
            DNA Sequencing by: Institute for Systems Biology
            http://www.systemsbiology.org
            contact: amadan@systemsbiology.org
            Anup Madan, Jessica Fahey, Erin Helton, Mark Ketteman, Anuradha
            Madan, Stephanie Rodrigues, Amy Sanchez and Michelle Whiting
            
            Clone distribution: MGC clone distribution information can be found
            through the I.M.A.G.E. Consortium/LLNL at: http://image.llnl.gov
            Series: IRAL Plate: 11 Row: b Column: 20.
FEATURES             Location/Qualifiers
     source          1..2580
                     /db_xref="H-InvDB:HIT000034677"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /clone="MGC:4843 IMAGE:3604732"
                     /tissue_type="Uterus, endometrium adenocarcinoma"
                     /clone_lib="NIH_MGC_44"
                     /lab_host="DH10B-R"
                     /note="Vector: pOTB7"
     gene            1..2580
                     /gene="DKC1"
                     /gene_synonym="dyskerin"
                     /gene_synonym="NAP57"
                     /gene_synonym="NOLA4"
                     /gene_synonym="XAP101"
                     /db_xref="GeneID:1736"
                     /db_xref="HGNC:HGNC:2890"
                     /db_xref="MIM:300126"
     CDS             203..1747
                     /gene="DKC1"
                     /gene_synonym="dyskerin"
                     /gene_synonym="NAP57"
                     /gene_synonym="NOLA4"
                     /gene_synonym="XAP101"
                     /codon_start=1
                     /product="dyskeratosis congenita 1, dyskerin"
                     /protein_id="AAH09928.1"
                     /db_xref="GeneID:1736"
                     /db_xref="HGNC:HGNC:2890"
                     /db_xref="MIM:300126"
                     /translation="MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKV
                     AKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSS
                     HEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLH
                     NAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWV
                     SCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNH
                     KDESYLRRFVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIV
                     VITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLM
                     IKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRE
                     SESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKE
                     VELVSE"
BASE COUNT          717 a          515 c          700 g          648 t
ORIGIN      
        1 gcattgcgca gacgaccagc gggcgcctcg gattccgccc ccgggatggc cccgcctcct
       61 cccgccccgc ggcaaggcac gcacagggca gtgcgcgggt gggtgggtcc tagcagcgcg
      121 gcctgacggg accaaggcgg cgggagtctg cggtcgttcc ctcggctgtg gaccgggcgg
      181 cacgcacgcg gtgcagggta acatggcgga tgcggaagta attattttgc caaagaaaca
      241 taagaagaaa aaggagcgga agtcattgcc agaagaagat gtagccgaaa tacaacacgc
      301 tgaagaattt cttatcaaac ctgaatccaa agttgctaag ttggacacgt ctcagtggcc
      361 ccttttgcta aagaattttg ataagctgaa tgtaaggaca acacactata cacctcttgc
      421 atgtggttca aatcctctga agagagagat tggggactat atcaggacag gtttcattaa
      481 tcttgacaag ccctctaacc cctcttccca tgaggtggta gcctggattc gacggatact
      541 tcgggtggag aagacagggc acagtggtac tctggatccc aaggtgactg gttgtttaat
      601 cgtgtgcata gaacgagcca ctcgcttggt gaagtcacaa cagagtgcag gcaaagagta
      661 tgtggggatt gtccggctgc acaatgctat tgaagggggg acccagcttt ctagggccct
      721 agaaactctg acaggtgcct tattccagcg acccccactt attgctgcag taaagaggca
      781 gctccgagtg aggaccatct acgagagcaa aatgattgaa tacgatcctg aaagaagatt
      841 aggaatcttt tgggtgagtt gtgaggctgg cacctacatt cggacattat gtgtgcacct
      901 tggtttgtta ttgggagttg gtggtcagat gcaggagctt cggagggttc gttctggagt
      961 catgagtgaa aaggaccaca tggtgacaat gcatgatgtg cttgatgctc agtggctgta
     1021 tgataaccac aaggatgaga gttacctgcg gcgatttgtt taccctttgg aaaagctgtt
     1081 gacatctcat aaacggctgg ttatgaaaga cagtgcagta aatgccatct gctatggggc
     1141 caagattatg cttccaggtg ttcttcgata tgaggacggc attgaggtca atcaggagat
     1201 tgtggttatc accaccaaag gagaagcaat ctgcatggct attgcattaa tgaccacagc
     1261 ggtcatctct acctgcgacc atggtatagt agccaagatc aagagagtga tcatggagag
     1321 agacacttac cctcggaagt ggggtttagg tccaaaggca agtcagaaga agctgatgat
     1381 caagcagggc cttctggaca agcatgggaa gcccacagac agcacacctg ccacctggaa
     1441 gcaggagtat gttgactaca gtgagtctgc caaaaaagag gtggttgctg aagtggtaaa
     1501 agccccgcag gtagttgccg aagcagcaaa aactgcgaag cggaagcgag agagtgagag
     1561 tgaaagtgac gagactcctc cagcagctcc tcagttgatc aagaaggaaa agaagaagag
     1621 taagaaggac aagaaggcca aagctggtct ggagagcggg gccgagcctg gagatgggga
     1681 cagtgatacc accaagaaga agaagaagaa gaagaaagca aaagaggtag aattggtttc
     1741 tgagtagtga aggccacttg aagctggagg agaaactaaa gccttattga gaaaacatgt
     1801 tatagatcct tttgttgctg agagagtgga acataggtcc tagacagggt gaagagttct
     1861 ggcacatttt agctgctact ttgagacctc ggtgatgtta cctggtgtgg tcatcccatc
     1921 ttgtcctgtt ttaaggatat gggtggtgaa agatgaaaga ggcagagttt atcccaatga
     1981 cttctctgtt tgagttggga agcctcacct tcagacccag taactgtccg cagctgtctg
     2041 ctagtggttg tcttaacatc gtagtcctag tttgcatttt ttaaatcccc tctgtttaaa
     2101 aggtttgtaa aacaaaaaca aaaaactaag tctgctcagt gaaatgctgt agaaccctaa
     2161 ataagtggta gaagagtgtc actgaatttt gtctctgaat tcagtataac tgagttttgt
     2221 ccatgctggt gtctgggtta taggcctgat gggcctggta gttttccatc ttgttctggc
     2281 ctagaggtca gtcctttgca cttcctcaaa gcttgtgtac agtgctcacc taaatccatc
     2341 tgactacttg ttcctgtgcc ctcttgtttt aggcctcgtt tacttttaaa aaatgaaatt
     2401 gttcattgct gggagaagaa tgttgtaatt tttacttatt aaagtcaact tgttaagttt
     2461 tttatgtatt cctgttgggt tttcttgttg atctcatgct agcagagcaa aaattgtaaa
     2521 atattttgat taaaaatcta gggaccttta tgtcctattt gaaaaaaaaa aaaaaaaaaa
//