LOCUS BC137169 5668 bp mRNA linear HUM 12-MAY-2008 DEFINITION Homo sapiens ataxia telangiectasia mutated, mRNA (cDNA clone MGC:168789 IMAGE:9021166), complete cds. ACCESSION BC137169 VERSION BC137169.1 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 5668) 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 5668) CONSRTM NIH MGC Project TITLE Direct Submission JOURNAL Submitted (29-MAR-2007) National Institutes of Health, Mammalian Gene Collection (MGC), Bethesda, MD 20892-2590, USA REMARK NIH-MGC Project URL: http://mgc.nci.nih.gov COMMENT Contact: MGC help desk Email: cgapbs-r@mail.nih.gov Tissue Procurement: Mike Brownstein, NIMH cDNA Library Preparation: British Columbia Cancer Research Center cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL) DNA Sequencing by: Genome Sequence Centre, BC Cancer Agency, Vancouver, BC, Canada info@bcgsc.bc.ca Martin Hirst, Thomas Zeng, Ryan Morin, Michelle Moksa, Johnson Pang, Diana Mah, Jing Wang, Kieth Fichter, Eric Chuah, Allen Delaney, Rob Kirkpatrick, Agnes Baross, Sarah Barber, Mabel Brown-John, Steve S. Chand, William Chow, Ryan Babakaiff, Dave Wong, Corey Matsuo, Jaclyn Beland, Susan Gibson, Luis delRio, Ruth Featherstone, Malachi Griffith, Obi Griffith, Ran Guin, Nancy Liao, Kim MacDonald, Mike R. Mayo, Josh Moran, Diana Palmquist, JR Santos, Duane Smailus, Jeff Stott, Miranda Tsai, George Yang, Jacquie Schein, Asim Siddiqui,Steven Jones, Rob Holt, Marco Marra. Clone distribution: MGC clone distribution information can be found through the I.M.A.G.E. Consortium/LLNL at: http://image.llnl.gov Series: LLDM Plate: 672 Row: g Column: 20. FEATURES Location/Qualifiers source 1..5668 /db_xref="H-InvDB:HIT000501127" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /clone="MGC:168789 IMAGE:9021166" /tissue_type="Brain, cerebellum, PCR rescued clones" /clone_lib="NIH_MGC_313" /note="Vector: pCR-XL-TOPO with reversed insert; Clone identification sequence tag: TGTGTGGG" gene 1..5668 /gene="ATM" /gene_synonym="AT1" /gene_synonym="ATE" /gene_synonym="TEL1" /gene_synonym="TELO1" /db_xref="GeneID:472" /db_xref="HGNC:HGNC:795" /db_xref="MIM:607585" CDS 68..5194 /gene="ATM" /gene_synonym="AT1" /gene_synonym="ATE" /gene_synonym="TEL1" /gene_synonym="TELO1" /codon_start=1 /product="ataxia telangiectasia mutated" /protein_id="AAI37170.1" /db_xref="GeneID:472" /db_xref="HGNC:HGNC:795" /db_xref="MIM:607585" /translation="MTLHEPANSSASQSTDLCDFSGDLDPAPNPPHFPSHVIKATFAY ISNCHKTKLKSILEILSKSPDSYQKILLAICEQAAETNNVYKKHRILKIYHLFVSLLL KDIKSGLGGAWAFVLRDVIYTLIHYINQRPSCIMDVSLRSFSLCCDLLSQVCQTAVTY CKDALENHLHVIVGTLIPLVYEQVEVQKQVLDLLKYLVIDNKDNENLYITIKLLDPFP DHVVFKDLRITQQKIKYSRGPFSLLEEINHFLSVSVYDALPLTRLEGLKDLRRQLELH KDQMVDIMRASQDNPQDGIMVKLVVNLLQLSKMAINHTGEKEVLEAVGSCLGEVGPID FSTIAIQHSKDASYTKALKLFEDKELQWTFIMLTYLNNTLVEDCVKVRSAAVTCLKNI LATKTGHSFWEIYKMTTDPMLAYLQPFRTSRKKFLEVPRFDKENPFEGLDDINLWIPL SENHDIWIKTLTCAFLDSGGTKCEILQLLKPMCEVKTDFCQTVLPYLIHDILLQDTNE SWRNLLSTHVQGFFTSCLRHFSQTSRSTTPANLDSESEHFFRCCLDKKSQRTMLAVVD YMRRQKRPSSGTIFNDAFWLDLNYLEVAKVAQSCAAHFTALLYAEIYADKKSMDDQEK RSLAFEEGSQSTTISSLSEKSKEETGISLQDLLLEIYRSIGEPDSLYGCGGGKMLQPI TRLRTYEHEAMWGKALVTYDLETAIPSSTRQAGIIQALQNLGLCHILSVYLKGLDYEN KDWCPELEELHYQAAWRNMQWDHCTSVSKEVEGTSYHESLYNALQSLRDREFSTFYES LKYARVKEVEEMCKRSLESVYSLYPTLSRLQAIGELESIGELFSRSVTHRQLSEVYIK WQKHSQLLKDSDFSFQEPIMALRTVILEILMEKEMDNSQRECIKDILTKHLVELSILA RTFKNTQLPERAIFQIKQYNSVSCGVSEWQLEEAQVFWAKKEQSLALSILKQMIKKLD ASCAANNPSLKLTYTECLRVCGNWLAETCLENPAVIMQTYLEKAVEVAGNYDGESSDE LRNGKMKAFLSLARFSDTQYQRIENYMKSSEFENKQALLKRAKEEVGLLREHKIQTNR YTVKVQRELELDELALRALKEDRKRFLCKAVENYINCLLSGEEHDMWVFRLCSLWLEN SGVSEVNGMMKRDGMKIPTYKFLPLMYQLAARMGTKMMGGLGFHEVLNNLISRISMDH PHHTLFIILALANANRDEFLTKPEVARRSRITKNVPKQSSQLDEDRTEAANRIICTIR SRRPQMVRSVEALCDAYIILANLDATQWKTQRKGINIPADQPITKLKNLEDVVVPTME IKVDHTGEYGNLVTIQSFKAEFRLAGGVNLPKIIDCVGSDGKERRQLVKGRDDLRQDA VMQQVFQMCNTLLQRNTETRKRKLTICTYKVVPLSQRSGVLEWCTGTVPIGEFLVNNE DGAHKRYRPNDFSAFQCQKKMMEVQKKSFEEKYEVFMDVCQNFQPVFRYFCMEKFLDP AIWFEKRLAYTRSVATSSIVGYILGLGDRHVQNILINEQSAELVHIDLGVAFEQGKIL PTPETVPFRLTRDIVDGMGITGVEGVFRRCCEKTMEVMRNSQETLLTIVEVLLYDPLF DWTMNPLKALYLQQRPEDETELHPTLNADDQECKRNLSDIDQSFNKVAERVLMRLQEK LKGVEEGTVLSVGGQVNLLIQQAIDPKNLSRLFPGWKAWV" BASE COUNT 1791 a 1044 c 1258 g 1575 t ORIGIN 1 ttttgtgccc ttgcagattg atcacttatt cattagtaat ttaccagaga ttgtggtgga 61 gttattgatg acgttacatg agccagcaaa ttctagtgcc agtcagagca ctgacctctg 121 tgacttttca ggggatttgg atcctgctcc taatccacct cattttccat cgcatgtgat 181 taaagcaaca tttgcctata tcagcaattg tcataaaacc aagttaaaaa gcattttaga 241 aattctttcc aaaagccctg attcctatca gaaaattctt cttgccatat gtgagcaagc 301 agctgaaaca aataatgttt ataagaagca cagaattctt aaaatatatc acctgtttgt 361 tagtttatta ctgaaagata taaaaagtgg cttaggagga gcttgggcct ttgttcttcg 421 agacgttatt tatactttga ttcactatat caaccaaagg ccttcttgta tcatggatgt 481 gtcattacgt agcttctccc tttgttgtga cttattaagt caggtttgcc agacagccgt 541 gacttactgt aaggatgctc tagaaaacca tcttcatgtt attgttggta cacttatacc 601 ccttgtgtat gagcaggtgg aggttcagaa acaggtattg gacttgttga aatacttagt 661 gatagataac aaggataatg aaaacctcta tatcacgatt aagcttttag atccttttcc 721 tgaccatgtt gtttttaagg atttgcgtat tactcagcaa aaaatcaaat acagtagagg 781 acccttttca ctcttggagg aaattaacca ttttctctca gtaagtgttt atgatgcact 841 tccattgaca agacttgaag gactaaagga tcttcgaaga caactggaac tacataaaga 901 tcagatggtg gacattatga gagcttctca ggataatccg caagatggga ttatggtgaa 961 actagttgtc aatttgttgc agttatccaa gatggcaata aaccacactg gtgaaaaaga 1021 agttctagag gctgttggaa gctgcttggg agaagtgggt cctatagatt tctctaccat 1081 agctatacaa catagtaaag atgcatctta taccaaggcc cttaagttat ttgaagataa 1141 agaacttcag tggaccttca taatgctgac ctacctgaat aacacactgg tagaagattg 1201 tgtcaaagtt cgatcagcag ctgttacctg tttgaaaaac attttagcca caaagactgg 1261 acatagtttc tgggagattt ataagatgac aacagatcca atgctggcct atctacagcc 1321 ttttagaaca tcaagaaaaa agtttttaga agtacccaga tttgacaaag aaaacccttt 1381 tgaaggcctg gatgatataa atctgtggat tcctctaagt gaaaatcatg acatttggat 1441 aaagacactg acttgtgctt ttttggacag tggaggcaca aaatgtgaaa ttcttcaatt 1501 attaaagcca atgtgtgaag tgaaaactga cttttgtcag actgtacttc catacttgat 1561 tcatgatatt ttactccaag atacaaatga atcatggaga aatctgcttt ctacacatgt 1621 tcagggattt ttcaccagct gtcttcgaca cttctcgcaa acgagccgat ccacaacccc 1681 tgcaaacttg gattcagagt cagagcactt tttccgatgc tgtttggata aaaaatcaca 1741 aagaacaatg cttgctgttg tggactacat gagaagacaa aagagacctt cttcaggaac 1801 aatttttaat gatgctttct ggctggattt aaattatcta gaagttgcca aggtagctca 1861 gtcttgtgct gctcacttta cagctttact ctatgcagaa atctatgcag ataagaaaag 1921 tatggatgat caagagaaaa gaagtcttgc atttgaagaa ggaagccaga gtacaactat 1981 ttctagcttg agtgaaaaaa gtaaagaaga aactggaata agtttacagg atcttctctt 2041 agaaatctac agaagtatag gggagccaga tagtttgtat ggctgtggtg gagggaagat 2101 gttacaaccc attactagac tacgaacata tgaacacgaa gcaatgtggg gcaaagccct 2161 agtaacatat gacctcgaaa cagcaatccc ctcatcaaca cgccaggcag gaatcattca 2221 ggccttgcag aatttgggac tctgccatat tctttccgtc tatttaaaag gattggatta 2281 tgaaaataaa gactggtgtc ctgaactaga agaacttcat taccaagcag catggaggaa 2341 tatgcagtgg gaccattgca cttccgtcag caaagaagta gaaggaacca gttaccatga 2401 atcattgtac aatgctctac aatctctaag agacagagaa ttctctacat tttatgaaag 2461 tctcaaatat gccagagtaa aagaagtgga agagatgtgt aagcgcagcc ttgagtctgt 2521 gtattcgctc tatcccacac ttagcaggtt gcaggccatt ggagagctgg aaagcattgg 2581 ggagcttttc tcaagatcag tcacacatag acaactctct gaagtatata ttaagtggca 2641 gaaacactcc cagcttctca aggacagtga ttttagtttt caggagccta tcatggctct 2701 acgcacagtc attttggaga tcctgatgga aaaggaaatg gacaactcac aaagagaatg 2761 tattaaggac attctcacca aacaccttgt agaactctct atactggcca gaactttcaa 2821 gaacactcag ctccctgaaa gggcaatatt tcaaattaaa cagtacaatt cagttagctg 2881 tggagtctct gagtggcagc tggaagaagc acaagtattc tgggcaaaaa aggagcagag 2941 tcttgccctg agtattctca agcaaatgat caagaagttg gatgccagct gtgcagcgaa 3001 caatcccagc ctaaaactta catacacaga atgtctgagg gtttgtggca actggttagc 3061 agaaacgtgc ttagaaaatc ctgcggtcat catgcagacc tatctagaaa aggcagtaga 3121 agttgctgga aattatgatg gagaaagtag tgatgagcta agaaatggaa aaatgaaggc 3181 atttctctca ttagcccggt tttcagatac tcaataccaa agaattgaaa actacatgaa 3241 atcatcggaa tttgaaaaca agcaagctct cctgaaaaga gccaaagagg aagtaggtct 3301 ccttagggaa cataaaattc agacaaacag atacacagta aaggttcagc gagagctgga 3361 gttggatgaa ttagccctgc gtgcactgaa agaggatcgt aaacgcttct tatgtaaagc 3421 agttgaaaat tatatcaact gcttattaag tggagaagaa catgatatgt gggtattccg 3481 actttgttcc ctctggcttg aaaattctgg agtttctgaa gtcaatggca tgatgaagag 3541 agacggaatg aagattccaa catataaatt tttgcctctt atgtaccaat tggctgctag 3601 aatggggacc aagatgatgg gaggcctagg atttcatgaa gtcctcaata atctaatctc 3661 tagaatttca atggatcacc cccatcacac tttgtttatt atactggcct tagcaaatgc 3721 aaacagagat gaatttctga ctaaaccaga ggtagccaga agaagcagaa taactaaaaa 3781 tgtgcctaaa caaagctctc agcttgatga ggatcgaaca gaggctgcaa atagaataat 3841 atgtactatc agaagtagga gacctcagat ggtcagaagt gttgaggcac tttgtgatgc 3901 ttatattata ttagcaaact tagatgccac tcagtggaag actcagagaa aaggcataaa 3961 tattccagca gaccagccaa ttactaaact taagaattta gaagatgttg ttgtccctac 4021 tatggaaatt aaggtggacc acacaggaga atatggaaat ctggtgacta tacagtcatt 4081 taaagcagaa tttcgcttag caggaggtgt aaatttacca aaaataatag attgtgtagg 4141 ttccgatggc aaggagagga gacagcttgt taagggccgt gatgacctga gacaagatgc 4201 tgtcatgcaa caggtcttcc agatgtgtaa tacattactg cagagaaaca cggaaactag 4261 gaagaggaaa ttaactatct gtacttataa ggtggttccc ctctctcagc gaagtggtgt 4321 tcttgaatgg tgcacaggaa ctgtccccat tggtgaattt cttgttaaca atgaagatgg 4381 tgctcataaa agatacaggc caaatgattt cagtgccttt cagtgccaaa agaaaatgat 4441 ggaggtgcaa aaaaagtctt tcgaagagaa atatgaagtc ttcatggatg tttgccaaaa 4501 ttttcaacca gttttccgtt acttctgcat ggaaaaattc ttggatccag ctatttggtt 4561 tgagaagcga ttggcttata cgcgcagtgt agctacttct tctattgttg gttacatact 4621 tggacttggt gatagacatg tacagaatat cttgataaat gagcagtcag cagaacttgt 4681 acatatagat ctaggtgttg cttttgaaca gggcaaaatc cttcctactc ctgagacagt 4741 tccttttaga ctcaccagag atattgtgga tggcatgggc attacgggtg ttgaaggtgt 4801 cttcagaaga tgctgtgaga aaaccatgga agtgatgaga aactctcagg aaactctgtt 4861 aaccattgta gaggtccttc tatatgatcc actctttgac tggaccatga atcctttgaa 4921 agctttgtat ttacagcaga ggccggaaga tgaaactgag cttcacccta ctctgaatgc 4981 agatgaccaa gaatgcaaac gaaatctcag tgatattgac cagagtttca acaaagtagc 5041 tgaacgtgtc ttaatgagac tacaagagaa actgaaagga gtggaagaag gcactgtgct 5101 cagtgttggt ggacaagtga atttgctcat acagcaggcc atagacccca aaaatctcag 5161 ccgacttttc ccaggatgga aagcttgggt gtgatcttca gtatatgaat taccctttca 5221 ttcagccttt agaaattata ttttagcctt tatttttaac ctgccaacat actttaagta 5281 gggattaata tttaagtgaa ctattgtggg tttttttgaa tgttggtttt aatacttgat 5341 ttaatcacca ctcaaaaatg ttttgatggt cttaaggaac atctctgctt tcactcttta 5401 gaaataatgg tcattcgggc tgggcgcagc ggctcacgcc tgtaatccca gcactttggg 5461 gggccgaggt gggcgggtcg cggggtcggg agttcgagac cagcctggcc aagagaccag 5521 cctggccggt atggtggagc cctgtctcta ctaaaagtgc aaaaattggc cgagcgtggt 5581 ggcgggcacc tgtggtcccg gctactcgag aggctgaggc gggagagtct cttgaacctg 5641 ggaggtggag gttgctgtgg gccaaaat //