LOCUS BC010015 2406 bp mRNA linear HUM 15-JUL-2006
DEFINITION Homo sapiens dyskeratosis congenita 1, dyskerin, mRNA (cDNA clone
MGC:15313 IMAGE:4303933), complete cds.
ACCESSION BC010015
VERSION BC010015.2
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 2406)
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 2406)
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 Dec 9, 2003 this sequence version replaced BC010015.1.
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: National Institutes of Health Intramural
Sequencing Center (NISC),
Gaithersburg, Maryland;
Web site: http://www.nisc.nih.gov/
Contact: nisc_mgc@nhgri.nih.gov
Akhter,N., Ayele,K., Beckstrom-Sternberg,S.M., Benjamin,B.,
Blakesley,R.W., Bouffard,G.G., Breen,K., Brinkley,C., Brooks,S.,
Dietrich,N.L., Granite,S., Guan,X., Gupta,J., Haghighi,P.,
Hansen,N., Ho,S.-L., Karlins,E., Kwong,P., Laric,P., Legaspi,R.,
Maduro,Q.L., Masiello,C., Maskeri,B., Mastrian,S.D.,McCloskey,J.C.,
McDowell,J., Pearson,R., Stantripop,S., Thomas,P.J., Touchman,J.W.,
Tsurgeon,C., Vogt,J.L., Walker,M.A., Wetherby,K.D., Wiggins,L.,
Young,A., Zhang,L.-H. and Green,E.D.
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: 26 Row: p Column: 18
This clone was selected for full length sequencing because it
passed the following selection criteria: matched mRNA gi: 15011921.
FEATURES Location/Qualifiers
source 1..2406
/db_xref="H-InvDB:HIT000034739"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/clone="MGC:15313 IMAGE:4303933"
/tissue_type="Uterus, leiomyosarcoma"
/clone_lib="NIH_MGC_46"
/lab_host="DH10B-R"
/note="Vector: pOTB7"
gene 1..2406
/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 27..1571
/gene="DKC1"
/gene_synonym="dyskerin"
/gene_synonym="NAP57"
/gene_synonym="NOLA4"
/gene_synonym="XAP101"
/codon_start=1
/product="dyskeratosis congenita 1, dyskerin"
/protein_id="AAH10015.1"
/db_xref="GeneID:1736"
/db_xref="HGNC:HGNC:2890"
/db_xref="MIM:300126"
/translation="MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKV
AKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSS
HEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLH
NAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWV
SCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNH
KDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIV
VITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLM
IKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRE
SESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKE
VELVSE"
BASE COUNT 698 a 451 c 632 g 625 t
ORIGIN
1 gcggcacgca cgcggtgcag ggtaacatgg cggatgcgga agtaattatt ttgccaaaga
61 aacataagaa gaaaaaggag cggaagtcat tgccagaaga agatgtagcc gaaatacaac
121 acgctgaaga atttcttatc aaacctgaat ccaaagttgc taagttggac acgtctcagt
181 ggcccctttt gctaaagaat tttgataagc tgaatgtaag gacaacacac tatacacctc
241 ttgcatgtgg ttcaaatcct ctgaagagag agattgggga ctatatcagg acaggtttca
301 ttaatcttga caagccctct aacccctctt cccatgaggt ggtagcctgg attcgacgga
361 tacttcgggt ggagaagaca gggcacagtg gtactctgga tcccaaggtg actggttgtt
421 taatcgtgtg catagaacga gccactcgct tggtgaagtc acaacagagt gcaggcaaag
481 agtatgtggg gattgtccgg ctgcacaatg ctattgaagg ggggacccag ctttctaggg
541 ccctagaaac tctgacaggt gccttattcc agcgaccccc acttattgct gcagtaaaga
601 ggcagctccg agtgaggacc atctacgaga gcaaaatgat tgaatacgat cctgaaagaa
661 gattaggaat cttttgggtg agttgtgagg ctggcaccta cattcggaca ttatgtgtgc
721 accttggttt gttattggga gttggtggtc agatgcagga gcttcggagg gttcgttctg
781 gagtcatgag tgaaaaggac cacatggtga caatgcatga tgtgcttgat gctcagtggc
841 tgtatgataa ccacaaggat gagagttacc tgcggcgagt tgtttaccct ttggaaaagc
901 tgttgacatc tcataaacgg ctggttatga aagacagtgc agtaaatgcc atctgctatg
961 gggccaagat tatgcttcca ggtgttcttc gatatgagga cggcattgag gtcaatcagg
1021 agattgtggt tatcaccacc aaaggagaag caatctgcat ggctattgca ttaatgacca
1081 cagcggtcat ctctacctgc gaccatggta tagtagccaa gatcaagaga gtgatcatgg
1141 agagagacac ttaccctcgg aagtggggtt taggtccaaa ggcaagtcag aagaagctga
1201 tgatcaagca gggccttctg gacaagcatg ggaagcccac agacagcaca cctgccacct
1261 ggaagcagga gtatgttgac tacagtgagt ctgccaaaaa agaggtggtt gctgaagtgg
1321 taaaagcccc gcaggtagtt gccgaagcag caaaaactgc gaagcggaag cgagagagtg
1381 agagtgaaag tgacgagact cctccagcag ctcctcagtt gatcaagaag gaaaagaaga
1441 agagtaagaa ggacaagaag gccaaagctg gtctggagag cggggccgag cctggagatg
1501 gggacagtga taccaccaag aagaagaaga agaagaagaa agcaaaagag gtagaattgg
1561 tttctgagta gtgaaggcca cttgaagctg gaggagaaac taaagcctta ttgagaaaac
1621 atgttataga tccttttgtt gctgagagag tggaacatag gtcctagaca gggtgaagag
1681 ttctggcaca ttttagctgc tactttgaga cctcggtgat gttacctggt gtggtcatcc
1741 catcttgtcc tgttttaagg atatgggtgg tgaaagatga aagaggcaga gtttatccca
1801 atgacttctc tgtttgagtt gggaagcctc accttcagac ccagtaactg tccgcagctg
1861 tctgctagtg gttgtcttaa catcgtagtc ctagtttgca ttttttaaat cccctctgtt
1921 taaaaggttt gtaaaacaaa aacaaaaaac taagtctgct cagtgaaatg ctgtagaacc
1981 ctaaataagt ggtagaagag tgtcactgaa ttttgtctct gaattcagta taactgagtt
2041 ttgtccatgc tggtgtctgg gttataggcc tgatgggcct ggtagttttc catcttgttc
2101 tggcctagag gtcagtcctt tgcacttcct caaagcttgt gtacagtgct cacctaaatc
2161 catctgacta cttgttcctg tgccctcttg ttttaggcct cgtttacttt taaaaaatga
2221 aattgttcat tgctgggaga agaatgttgt aatttttact tattaaagtc aacttgttaa
2281 gttttttatg tattcctgtt gggttttctt gttgatctca tgctagcaga gcaaaaattg
2341 taaaatattt tgattaaaaa tctagggacc tttatgtcct atttgaaaaa aaaaaaaaaa
2401 aaaaaa
//