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
//