Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.
| RefSeq Version | NM_000051.3, 71902539 |
| Length | 13147 bp |
| Structure | linear |
| Update Date | 12-NOV-2010 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens ataxia telangiectasia mutated (ATM), mRNA. |
| Product | serine-protein kinase ATM |
| Comment | Summary: The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq]. |
| RefSeq | NP_000042.3 |
| CDS | 386..9556 | Exon (1) | 1..355 | Exon (2) | 1..355 | Exon (3) | 356..457 | Exon (4) | 458..570 | Exon (5) | 571..716 | Exon (6) | 717..881 | Exon (7) | 882..1047 | Exon (8) | 1048..1286 | Exon (9) | 1287..1450 | Exon (10) | 1451..1620 | Exon (11) | 1621..1992 | Exon (12) | 1993..2187 | Exon (13) | 2188..2283 | Exon (14) | 2284..2509 | Exon (15) | 2510..2635 | Exon (16) | 2636..2761 | Exon (17) | 2762..2851 | Exon (18) | 2852..3023 | Exon (19) | 3024..3223 | Exon (20) | 3224..3306 | Exon (21) | 3307..3462 | Exon (22) | 3463..3538 | Exon (23) | 3539..3669 | Exon (24) | 3670..3787 | Exon (25) | 3788..3961 | Exon (26) | 3962..4131 | Exon (27) | 4132..4378 | Exon (28) | 4379..4494 | Exon (29) | 4495..4621 | Exon (30) | 4622..4821 | Exon (31) | 4822..4996 | Exon (32) | 4997..5161 | Exon (33) | 5162..5294 | Exon (34) | 5295..5390 | Exon (35) | 5391..5562 | Exon (36) | 5563..5704 | Exon (37) | 5705..5881 | Exon (38) | 5882..6059 | Exon (39) | 6060..6147 | Exon (40) | 6148..6303 | Exon (41) | 6304..6391 | Exon (42) | 6392..6480 | Exon (43) | 6481..6583 | Exon (44) | 6584..6732 | Exon (45) | 6733..6837 | Exon (46) | 6838..6957 | Exon (47) | 6958..7192 | Exon (48) | 7193..7360 | Exon (49) | 7361..7474 | Exon (50) | 7475..7692 | Exon (51) | 7693..7900 | Exon (52) | 7901..8014 | Exon (53) | 8015..8173 | Exon (54) | 8174..8312 | Exon (55) | 8313..8395 | Exon (56) | 8396..8536 | Exon (57) | 8537..8653 | Exon (58) | 8654..8803 | Exon (59) | 8804..8969 | Exon (60) | 8970..9056 | Exon (61) | 9057..9171 | Exon (62) | 9172..9235 | Exon (63) | 9236..9372 | Exon (64) | 9373..13147 |
| Translation | MSLVLNDLLICCRQLEHDRATERKKEVEKFKRLIRDPETIKHLDRHSDSKQGKYLNWDAV
FRFLQKYIQKETECLRIAKPNVSASTQASRQKKMQEISSLVKYFIKCANRRAPRLKCQEL
LNYIMDTVKDSSNGAIYGADCSNILLKDILSVRKYWCEISQQQWLELFSVYFRLYLKPSQ
DVHRVLVARIIHAVTKGCCSQTDGLNSKFLDFFSKAIQCARQEKSSSGLNHILAALTIFL
KTLAVNFRIRVCELGDEILPTLLYIWTQHRLNDSLKEVIIELFQLQIYIHHPKGAKTQEK
GAYESTKWRSILYNLYDLLVNEISHIGSRGKYSSGFRNIAVKENLIELMADICHQVFNED
TRSLEISQSYTTTQRESSDYSVPCKRKKIELGWEVIKDHLQKSQNDFDLVPWLQIATQLI
SKYPASLPNCELSPLLMILSQLLPQQRHGERTPYVLRCLTEVALCQDKRSNLESSQKSDL
LKLWNKIWCITFRGISSEQIQAENFGLLGAIIQGSLVEVDREFWKLFTGSACRPSCPAVC
CLTLALTTSIVPGTVKMGIEQNMCEVNRSFSLKESIMKWLLFYQLEGDLENSTEVPPILH
SNFPHLVLEKILVSLTMKNCKAAMNFFQSVPECEHHQKDKEELSFSEVEELFLQTTFDKM
DFLTIVRECGIEKHQSSIGFSVHQNLKESLDRCLLGLSEQLLNNYSSEITNSETLVRCSR
LLVGVLGCYCYMGVIAEEEAYKSELFQKAKSLMQCAGESITLFKNKTNEEFRIGSLRNMM
QLCTRCLSNCTKKSPNKIASGFFLRLLTSKLMNDIADICKSLASFIKKPFDRGEVESMED
DTNGNLMEVEDQSSMNLFNDYPDSSVSDANEPGESQSTIGAINPLAEEYLSKQDLLFLDM
LKFLCLCVTTAQTNTVSFRAADIRRKLLMLIDSSTLEPTKSLHLHMYLMLLKELPGEEYP
LPMEDVLELLKPLSNVCSLYRRDQDVCKTILNHVLHVVKNLGQSNMDSENTRDAQGQFLT
VIGAFWHLTKERKYIFSVRMALVNCLKTLLEADPYSKWAILNVMGKDFPVNEVFTQFLAD
NHHQVRMLAAESINRLFQDTKGDSSRLLKALPLKLQQTAFENAYLKAQEGMREMSHSAEN
PETLDEIYNRKSVLLTLIAVVLSCSPICEKQALFALCKSVKENGLEPHLVKKVLEKVSET
FGYRRLEDFMASHLDYLVLEWLNLQDTEYNLSSFPFILLNYTNIEDFYRSCYKVLIPHLV
IRSHFDEVKSIANQIQEDWKSLLTDCFPKILVNILPYFAYEGTRDSGMAQQRETATKVYD
MLKSENLLGKQIDHLFISNLPEIVVELLMTLHEPANSSASQSTDLCDFSGDLDPAPNPPH
FPSHVIKATFAYISNCHKTKLKSILEILSKSPDSYQKILLAICEQAAETNNVYKKHRILK
IYHLFVSLLLKDIKSGLGGAWAFVLRDVIYTLIHYINQRPSCIMDVSLRSFSLCCDLLSQ
VCQTAVTYCKDALENHLHVIVGTLIPLVYEQVEVQKQVLDLLKYLVIDNKDNENLYITIK
LLDPFPDHVVFKDLRITQQKIKYSRGPFSLLEEINHFLSVSVYDALPLTRLEGLKDLRRQ
LELHKDQMVDIMRASQDNPQDGIMVKLVVNLLQLSKMAINHTGEKEVLEAVGSCLGEVGP
IDFSTIAIQHSKDASYTKALKLFEDKELQWTFIMLTYLNNTLVEDCVKVRSAAVTCLKNI
LATKTGHSFWEIYKMTTDPMLAYLQPFRTSRKKFLEVPRFDKENPFEGLDDINLWIPLSE
NHDIWIKTLTCAFLDSGGTKCEILQLLKPMCEVKTDFCQTVLPYLIHDILLQDTNESWRN
LLSTHVQGFFTSCLRHFSQTSRSTTPANLDSESEHFFRCCLDKKSQRTMLAVVDYMRRQK
RPSSGTIFNDAFWLDLNYLEVAKVAQSCAAHFTALLYAEIYADKKSMDDQEKRSLAFEEG
SQSTTISSLSEKSKEETGISLQDLLLEIYRSIGEPDSLYGCGGGKMLQPITRLRTYEHEA
MWGKALVTYDLETAIPSSTRQAGIIQALQNLGLCHILSVYLKGLDYENKDWCPELEELHY
QAAWRNMQWDHCTSVSKEVEGTSYHESLYNALQSLRDREFSTFYESLKYARVKEVEEMCK
RSLESVYSLYPTLSRLQAIGELESIGELFSRSVTHRQLSEVYIKWQKHSQLLKDSDFSFQ
EPIMALRTVILEILMEKEMDNSQRECIKDILTKHLVELSILARTFKNTQLPERAIFQIKQ
YNSVSCGVSEWQLEEAQVFWAKKEQSLALSILKQMIKKLDASCAANNPSLKLTYTECLRV
CGNWLAETCLENPAVIMQTYLEKAVEVAGNYDGESSDELRNGKMKAFLSLARFSDTQYQR
IENYMKSSEFENKQALLKRAKEEVGLLREHKIQTNRYTVKVQRELELDELALRALKEDRK
RFLCKAVENYINCLLSGEEHDMWVFRLCSLWLENSGVSEVNGMMKRDGMKIPTYKFLPLM
YQLAARMGTKMMGGLGFHEVLNNLISRISMDHPHHTLFIILALANANRDEFLTKPEVARR
SRITKNVPKQSSQLDEDRTEAANRIICTIRSRRPQMVRSVEALCDAYIILANLDATQWKT
QRKGINIPADQPITKLKNLEDVVVPTMEIKVDHTGEYGNLVTIQSFKAEFRLAGGVNLPK
IIDCVGSDGKERRQLVKGRDDLRQDAVMQQVFQMCNTLLQRNTETRKRKLTICTYKVVPL
SQRSGVLEWCTGTVPIGEFLVNNEDGAHKRYRPNDFSAFQCQKKMMEVQKKSFEEKYEVF
MDVCQNFQPVFRYFCMEKFLDPAIWFEKRLAYTRSVATSSIVGYILGLGDRHVQNILINE
QSAELVHIDLGVAFEQGKILPTPETVPFRLTRDIVDGMGITGVEGVFRRCCEKTMEVMRN
SQETLLTIVEVLLYDPLFDWTMNPLKALYLQQRPEDETELHPTLNADDQECKRNLSDIDQ
SFNKVAERVLMRLQEKLKGVEEGTVLSVGGQVNLLIQQAIDPKNLSRLFPGWKAWV
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| Gene Symbol | ATM |
| Gene Synonym | AT1; ATA; ATC; ATD; ATDC; ATE; DKFZp781A0353; MGC74674; TEL1; TELO1 |
| Chromosome | 11 |
| Locus Map | 11q22-q23 |
| All Transcripts | NM_000051 |
| Title | ATM- and NEMO-dependent ELKS ubiquitination coordinates TAK1-mediated IKK activation in response to genotoxic stress . |
| Author | Wu,Z.H., Wong,E.T., Shi,Y., Niu,J., Chen,Z., Miyamoto,S. and Tergaonkar,V. |
| Journal | Mol. Cell 40 (1), 75-86 (2010) |
| Title | A cytoplasmic ATM-TRAF6-cIAP1 module links nuclear DNA damage signaling to ubiquitin-mediated NF-kappaB activation . |
| Author | Hinz,M., Stilmann,M., Arslan,S.C., Khanna,K.K., Dittmar,G. and Scheidereit,C. |
| Journal | Mol. Cell 40 (1), 63-74 (2010) |
| Title | A functional single nucleotide polymorphism in promoter of ATM is associated with longevity . |
| Author | Chen,T., Dong,B., Lu,Z., Tian,B., Zhang,J., Zhou,J., Wu,H., Zhang,Y., Wu,J., Lin,P., Zhang,J., Xu,H. and Mo,X. |
| Journal | Mech. Ageing Dev. 131 (10), 636-640 (2010) |
| Title | A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability . |
| Author | Hurov,K.E., Cotta-Ramusino,C. and Elledge,S.J. |
| Journal | Genes Dev. 24 (17), 1939-1950 (2010) |
| Title | Mutational profiling of kinases in human tumours of pancreatic origin identifies candidate cancer genes in ductal and ampulla of vater carcinomas . |
| Author | Corbo,V., Ritelli,R., Barbi,S., Funel,N., Campani,D., Bardelli,A. and Scarpa,A. |
| Journal | PLoS ONE 5 (9), E12653 (2010) |
| Title | The product of the ataxia-telangiectasia group D complementing gene, ATDC, interacts with a protein kinase C substrate and inhibitor . |
| Author | Brzoska,P.M., Chen,H., Zhu,Y., Levin,N.A., Disatnik,M.H., Mochly-Rosen,D., Murnane,J.P. and Christman,M.F. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 92 (17), 7824-7828 (1995) |
| Title | Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome . |
| Author | Nagai,T., Nishimura,G., Kato,R., Hasegawa,T., Ohashi,H. and Fukushima,Y. |
| Journal | Am. J. Med. Genet. 55 (1), 16-18 (1995) |
| Title | Comparison of collagen propeptides as growth markers in children with inflammatory bowel disease . |
| Author | Hyams,J.S., Treem,W.R., Carey,D.E., Wyzga,N., Eddy,E., Goldberg,B.D. and Moore,R.E. |
| Journal | Gastroenterology 100 (4), 971-975 (1991) |
| Title | ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome . |
| Author | Curry,C.J., O'Lague,P., Tsai,J., Hutchison,H.T., Jaspers,N.G., Wara,D. and Gatti,R.A. |
| Journal | Am. J. Hum. Genet. 45 (2), 270-275 (1989) |
| Title | Localization of an ataxia-telangiectasia gene to chromosome 11q22-23 . |
| Author | Gatti,R.A., Berkel,I., Boder,E., Braedt,G., Charmley,P., Concannon,P., Ersoy,F., Foroud,T., Jaspers,N.G., Lange,K. et al. |
| Journal | Nature 336 (6199), 577-580 (1988) |
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