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 //