LOCUS HSU26455 5912 bp mRNA linear HUM 02-FEB-1996
DEFINITION Human phosphatidylinositol 3-kinase homolog (ATM) mRNA, complete
cds.
ACCESSION U26455
VERSION U26455.1
KEYWORDS .
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 5912)
AUTHORS Savitsky,K., Bar-Shira,A., Gilad,S., Rotman,G., Ziv,Y.,
Vanagaite,L., Tagle,D.A., Smith,S., Uziel,T., Sfez,S.,
Ashkenazi,M., Pecker,I., Frydman,M., Harnik,R., Patanjali,S.R.,
Simmons,A., Clines,G.A., Sartiel,A., Gatti,R.A., Chessa,L.,
Sanal,O., Lavin,M.F., Jaspers,N.J., Taylor,A.R., Arlett,C.F.,
Miki,T., Weissman,S.M., Lovett,M., Collins,F.S. and Shiloh,Y.
TITLE A single ataxia telangiectasia gene with a product similar to PI-3
kinase
JOURNAL Science 268 (5218), 1749-1753 (1995)
PUBMED 7792600
REFERENCE 2 (bases 1 to 5912)
AUTHORS Shiloh,Y., Savitsky,K., Bar-Shira,A., Gilad,S., Rotman,G., Ziv,Y.,
Vanagaite,L., Pecker,I., Uziel,T., Ashkenazi,M., Sfez,S., Smith,S.,
Sartiel,A. and Harnik,R.
TITLE Direct Submission
JOURNAL Submitted (08-MAY-1995) Yossi Shiloh, Human Genetics, Sackler
School of Medicine, Tel-Aviv University, Ramat-Aviv, Tel-Aviv
69978, Israel
COMMENT This clone may represent either splicing intermediate or
alternatively spliced transcript of this gene, in which sequences
of the adjacent intron were left to serve as an untranslated
leader.
FEATURES Location/Qualifiers
source 1..5912
/db_xref="H-InvDB:HIT000218801"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q22-23"
/clone="7-9"
gene 1..5912
/gene="ATM"
misc_feature 1..259
/gene="ATM"
/note="unspliced adjacent intron"
CDS 260..5386
/gene="ATM"
/note="similar to yeast phosphatidylinositol 3-kinase
Tor1p, Swiss-Prot Accession Number P35169, and Tor2p,
Swiss-Prot Accession Number P32600, and Esr1p, Swiss-Prot
Accession Number P38111"
/codon_start=1
/product="phosphatidylinositol 3-kinase homolog"
/protein_id="AAA86520.1"
/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
DWTMNPLKALYLQQRPEDETELHPTLNADDQECKRNLSDIDQSFDKVAERVLMRLQEK
LKGVEEGTVLSVGGQVNLLIQQAIDPKNLSRLFPGWKAWV"
repeat_region 5610..5912
/gene="ATM"
/note="Alu-Sq subfamily"
/rpt_family="Alu"
/rpt_type=dispersed
BASE COUNT 1885 a 1085 c 1281 g 1661 t
ORIGIN
1 catacttttt cctcttagtc tacaggttgg ctgcatagaa gaaaaaggta gagttattta
61 taatcttgta aatcttggac tttgagtcat ctattttctt ttacagtcat cgaatacttt
121 tggaaataag gtaatatatg ccttttgagc tgtcttgacg ttcacagata taaaatatta
181 aatatatttt aattttgtgc ccttgcagat tgatcactta ttcattagta atttaccaga
241 gattgtggtg gagttattga tgacgttaca tgagccagca aattctagtg ccagtcagag
301 cactgacctc tgtgactttt caggggattt ggatcctgct cctaatccac ctcattttcc
361 atcgcatgtg attaaagcaa catttgccta tatcagcaat tgtcataaaa ccaagttaaa
421 aagcatttta gaaattcttt ccaaaagccc tgattcctat cagaaaattc ttcttgccat
481 atgtgagcaa gcagctgaaa caaataatgt ttataagaag cacagaattc ttaaaatata
541 tcacctgttt gttagtttat tactgaaaga tataaaaagt ggcttaggag gagcttgggc
601 ctttgttctt cgagacgtta tttatacttt gattcactat atcaaccaaa ggccttcttg
661 tatcatggat gtgtcattac gtagcttctc cctttgttgt gacttattaa gtcaggtttg
721 ccagacagcc gtgacttact gtaaggatgc tctagaaaac catcttcatg ttattgttgg
781 tacacttata ccccttgtgt atgagcaggt ggaggttcag aaacaggtat tggacttgtt
841 gaaatactta gtgatagata acaaggataa tgaaaacctc tatatcacga ttaagctttt
901 agatcctttt cctgaccatg ttgtttttaa ggatttgcgt attactcagc aaaaaatcaa
961 atacagtaga ggaccctttt cactcttgga ggaaattaac cattttctct cagtaagtgt
1021 ttatgatgca cttccattga caagacttga aggactaaag gatcttcgaa gacaactgga
1081 actacataaa gatcagatgg tggacattat gagagcttct caggataatc cgcaagatgg
1141 gattatggtg aaactagttg tcaatttgtt gcagttatcc aagatggcaa taaaccacac
1201 tggtgaaaaa gaagttctag aggctgttgg aagctgcttg ggagaagtgg gtcctataga
1261 tttctctacc atagctatac aacatagtaa agatgcatct tataccaagg cccttaagtt
1321 atttgaagat aaagaacttc agtggacctt cataatgctg acctacctga ataacacact
1381 ggtagaagat tgtgtcaaag ttcgatcagc agctgttacc tgtttgaaaa acattttagc
1441 cacaaagact ggacatagtt tctgggagat ttataagatg acaacagatc caatgctggc
1501 ctatctacag ccttttagaa catcaagaaa aaagttttta gaagtaccca gatttgacaa
1561 agaaaaccct tttgaaggcc tggatgatat aaatctgtgg attcctctaa gtgaaaatca
1621 tgacatttgg ataaagacac tgacttgtgc ttttttggac agtggaggca caaaatgtga
1681 aattcttcaa ttattaaagc caatgtgtga agtgaaaact gacttttgtc agactgtact
1741 tccatacttg attcatgata ttttactcca agatacaaat gaatcatgga gaaatctgct
1801 ttctacacat gttcagggat ttttcaccag ctgtcttcga cacttctcgc aaacgagccg
1861 atccacaacc cctgcaaact tggattcaga gtcagagcac tttttccgat gctgtttgga
1921 taaaaaatca caaagaacaa tgcttgctgt tgtggactac atgagaagac aaaagagacc
1981 ttcttcagga acaattttta atgatgcttt ctggctggat ttaaattatc tagaagttgc
2041 caaggtagct cagtcttgtg ctgctcactt tacagcttta ctctatgcag aaatctatgc
2101 agataagaaa agtatggatg atcaagagaa aagaagtctt gcatttgaag aaggaagcca
2161 gagtacaact atttctagct tgagtgaaaa aagtaaagaa gaaactggaa taagtttaca
2221 ggatcttctc ttagaaatct acagaagtat aggggagcca gatagtttgt atggctgtgg
2281 tggagggaag atgttacaac ccattactag actacgaaca tatgaacacg aagcaatgtg
2341 gggcaaagcc ctagtaacat atgacctcga aacagcaatc ccctcatcaa cacgccaggc
2401 aggaatcatt caggccttgc agaatttggg actctgccat attctttccg tctatttaaa
2461 aggattggat tatgaaaata aagactggtg tcctgaacta gaagaacttc attaccaagc
2521 agcatggagg aatatgcagt gggaccattg cacttccgtc agcaaagaag tagaaggaac
2581 cagttaccat gaatcattgt acaatgctct acaatctcta agagacagag aattctctac
2641 attttatgaa agtctcaaat atgccagagt aaaagaagtg gaagagatgt gtaagcgcag
2701 ccttgagtct gtgtattcgc tctatcccac acttagcagg ttgcaggcca ttggagagct
2761 ggaaagcatt ggggagcttt tctcaagatc agtcacacat agacaactct ctgaagtata
2821 tattaagtgg cagaaacact cccagcttct caaggacagt gattttagtt ttcaggagcc
2881 tatcatggct ctacgcacag tcattttgga gatcctgatg gaaaaggaaa tggacaactc
2941 acaaagagaa tgtattaagg acattctcac caaacacctt gtagaactct ctatactggc
3001 cagaactttc aagaacactc agctccctga aagggcaata tttcaaatta aacagtacaa
3061 ttcagttagc tgtggagtct ctgagtggca gctggaagaa gcacaagtat tctgggcaaa
3121 aaaggagcag agtcttgccc tgagtattct caagcaaatg atcaagaagt tggatgccag
3181 ctgtgcagcg aacaatccca gcctaaaact tacatacaca gaatgtctga gggtttgtgg
3241 caactggtta gcagaaacgt gcttagaaaa tcctgcggtc atcatgcaga cctatctaga
3301 aaaggcagta gaagttgctg gaaattatga tggagaaagt agtgatgagc taagaaatgg
3361 aaaaatgaag gcatttctct cattagcccg gttttcagat actcaatacc aaagaattga
3421 aaactacatg aaatcatcgg aatttgaaaa caagcaagct ctcctgaaaa gagccaaaga
3481 ggaagtaggt ctccttaggg aacataaaat tcagacaaac agatacacag taaaggttca
3541 gcgagagctg gagttggatg aattagccct gcgtgcactg aaagaggatc gtaaacgctt
3601 cttatgtaaa gcagttgaaa attatatcaa ctgcttatta agtggagaag aacatgatat
3661 gtgggtattc cgactttgtt ccctctggct tgaaaattct ggagtttctg aagtcaatgg
3721 catgatgaag agagacggaa tgaagattcc aacatataaa tttttgcctc ttatgtacca
3781 attggctgct agaatgggga ccaagatgat gggaggccta ggatttcatg aagtcctcaa
3841 taatctaatc tctagaattt caatggatca cccccatcac actttgttta ttatactggc
3901 cttagcaaat gcaaacagag atgaatttct gactaaacca gaggtagcca gaagaagcag
3961 aataactaaa aatgtgccta aacaaagctc tcagcttgat gaggatcgaa cagaggctgc
4021 aaatagaata atatgtacta tcagaagtag gagacctcag atggtcagaa gtgttgaggc
4081 actttgtgat gcttatatta tattagcaaa cttagatgcc actcagtgga agactcagag
4141 aaaaggcata aatattccag cagaccagcc aattactaaa cttaagaatt tagaagatgt
4201 tgttgtccct actatggaaa ttaaggtgga ccacacagga gaatatggaa atctggtgac
4261 tatacagtca tttaaagcag aatttcgctt agcaggaggt gtaaatttac caaaaataat
4321 agattgtgta ggttccgatg gcaaggagag gagacagctt gttaagggcc gtgatgacct
4381 gagacaagat gctgtcatgc aacaggtctt ccagatgtgt aatacattac tgcagagaaa
4441 cacggaaact aggaagagga aattaactat ctgtacttat aaggtggttc ccctctctca
4501 gcgaagtggt gttcttgaat ggtgcacagg aactgtcccc attggtgaat ttcttgttaa
4561 caatgaagat ggtgctcata aaagatacag gccaaatgat ttcagtgcct ttcagtgcca
4621 aaagaaaatg atggaggtgc aaaaaaagtc ttttgaagag aaatatgaag tcttcatgga
4681 tgtttgccaa aattttcaac cagttttccg ttacttctgc atggaaaaat tcttggatcc
4741 agctatttgg tttgagaagc gattggctta tacgcgcagt gtagctactt cttctattgt
4801 tggttacata cttggacttg gtgatagaca tgtacagaat atcttgataa atgagcagtc
4861 agcagaactt gtacatatag atctaggtgt tgcttttgaa cagggcaaaa tccttcctac
4921 tcctgagaca gttcctttta gactcaccag agatattgtg gatggcatgg gcattacggg
4981 tgttgaaggt gtcttcagaa gatgctgtga gaaaaccatg gaagtgatga gaaactctca
5041 ggaaactctg ttaaccattg tagaggtcct tctatatgat ccactctttg actggaccat
5101 gaatcctttg aaagctttgt atttacagca gaggccggaa gatgaaactg agcttcaccc
5161 tactctgaat gcagatgacc aagaatgcaa acgaaatctc agtgatattg accagagttt
5221 cgacaaagta gctgaacgtg tcttaatgag actacaagag aaactgaaag gagtggaaga
5281 aggcactgtg ctcagtgttg gtggacaggt gaatttgctc atacagcagg ccatagaccc
5341 caaaaatctc agccgacttt tcccaggatg gaaagcttgg gtgtgatctt cagtatatga
5401 attacccttt cattcagcct ttagaaatta tattttagcc tttattttta acctgccaac
5461 atactttaag tagggattaa tatttaagtg aactattgtg ggtttttttg aatgttggtt
5521 ttaatacttg atttaatcac cactcaaaaa tgttttgatg gtcttaagga acatctctgc
5581 tttcactctt tagaaataat ggtcattcgg gctgggcgca gcggctcacg cctgtaatcc
5641 cagcactttg ggaggccgag gtgagcggat cacaaggtca ggagttcgag accagcctgg
5701 ccaagagacc agcctggcca gtatggtgaa accctgtctc tactaaaaat acaaaaatta
5761 gccgagcatg gtggcgggca cctgtagtcc cagctactcg agaggctgag gcaggagaat
5821 ctcttgaacc tgggaggtga aggttgctgt gggccaaaat catgccattg cactccagcc
5881 tgggtgacaa gagcgaaact ccatctcaaa aa
//