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ATM

Protein FULL name:

serine-protein kinase ATM isoform 1 [Homo sapiens].


ATM (Homo sapiens) is product of expression of ATM gene.

Human diseases related to this protein:

ATM is involved in:

DDS in Homo sapiens
     


Keywords:



FUNCTION: Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C. May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends.

CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein.

ENZYME REGULATION: Inhibited by wortmannin.

SUBUNIT: Dimers or tetramers in inactive state. On DNA damage, autophosphorylation dissociates ATM into monomers rendering them catalytically active. Binds p53/TP53, ABL1, BRCA1, NBN/nibrin and TERF1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBN protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with RAD17; DNA damage promotes the association. Interacts with EEF1E1; the interaction, induced on DNA damage, upregulates TP53. Interacts with DCLRE1C, MYST1, KAT5, OBFC2B, ATMIN and CEP164. Interacts with AP2B1 and AP3B2; the interaction occurs in cytoplasmic vesicles (By similarity). Interacts with TELO2 AND TTI1.

INTERACTION: Self; NbExp=1; IntAct=EBI-495465, EBI-495465; Q9NY61:AATF; NbExp=2; IntAct=EBI-495465, EBI-372428; P00519:ABL1; NbExp=1; IntAct=EBI-495465, EBI-375543; Q14676:MDC1; NbExp=1; IntAct=EBI-495465, EBI-495644; Q9BQ15:OBFC2B; NbExp=3; IntAct=EBI-495465, EBI-2120336; P62136:PPP1CA; NbExp=1; IntAct=EBI-495465, EBI-357253; P36873-1:PPP1CC; NbExp=1; IntAct=EBI-495465, EBI-356289; Q14683:SMC1A; NbExp=1; IntAct=EBI-495465, EBI-80690; Q9Y4R8:TELO2; NbExp=1; IntAct=EBI-495465, EBI-1043674; P54274:TERF1; NbExp=1; IntAct=EBI-495465, EBI-710997; P54274-1:TERF1; NbExp=1; IntAct=EBI-495465, EBI-711014; P54274-2:TERF1; NbExp=4; IntAct=EBI-495465, EBI-711018; P02340:Tp53 (xeno); NbExp=1; IntAct=EBI-495465, EBI-474016;

SUBCELLULAR LOCATION: Nucleus. Cytoplasmic vesicle. Note=Primarily nuclear. Found also in endocytic vesicles in association with beta-adaptin.

TISSUE SPECIFICITY: Found in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain, heart, spleen, thymus, testis, ovary, small intestine, colon and leukocytes.

INDUCTION: By ionizing radiation.

DOMAIN: The FATC domain is required for interaction with KAT5.

PTM: Phosphorylated by NUAK1/ARK5. Autophosphorylation on Ser-367, Ser-1983, Ser-1981 correlates with DNA damage-mediated activation of the kinase.

PTM: Acetylation, on DNA damage, is required for activation of the kinase activity, dimer-monomer transition, and subsequent autophosphorylation on Ser-1981. Acetylated in vitro by KAT5/TIP60.

DISEASE: Defects in ATM are the cause of ataxia telangiectasia (AT) [MIM:208900]; also known as Louis-Bar syndrome, which includes four complementation groups: A, C, D and E. This rare recessive disorder is characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. AT patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.

DISEASE: Note=Defects in ATM contribute to T-cell acute lymphoblastic leukemia (TALL) and T-prolymphocytic leukemia (TPLL). TPLL is characterized by a high white blood cell count, with a predominance of prolymphocytes, marked splenomegaly, lymphadenopathy, skin lesions and serous effusion. The clinical course is highly aggressive, with poor response to chemotherapy and short survival time. TPLL occurs both in adults as a sporadic disease and in younger AT patients.

DISEASE: Note=Defects in ATM contribute to B-cell non-Hodgkin lymphomas (BNHL), including mantle cell lymphoma (MCL).

DISEASE: Note=Defects in ATM contribute to B-cell chronic lymphocytic leukemia (BCLL). BCLL is the commonest form of leukemia in the elderly. It is characterized by the accumulation of mature CD5+ B lymphocytes, lymphadenopathy, immunodeficiency and bone marrow failure.

SIMILARITY: Belongs to the PI3/PI4-kinase family. ATM subfamily.

SIMILARITY: Contains 1 FAT domain.

SIMILARITY: Contains 1 FATC domain.

SIMILARITY: Contains 1 PI3K/PI4K domain.

WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; [LINK]

WEB RESOURCE: Name=GeneReviews; [LINK]

WEB RESOURCE: Name=NIEHS-SNPs; [LINK]

WEB RESOURCE: Name=Wikipedia; Note=Ataxia telangiectasia mutated entry; [LINK]


NCBI GenPept GI number(s): 71902540
Species: Homo sapiens

Links to other databases:

Database ID Link
Uniprot Q13315 Q13315
PFAM: - Q13315 (Link - using uniprot id)
InterPro: - Q13315 (Link - using uniprot id)
CATH: None  
SCOP: None  
PDB: - -


Protein sequence:
MSLVLNDLLICCRQLEHDRATERKKEVEKFKRLIRDPETIKHLDRHSDSK
QGKYLNWDAVFRFLQKYIQKETECLRIAKPNVSASTQASRQKKMQEISSL
VKYFIKCANRRAPRLKCQELLNYIMDTVKDSSNGAIYGADCSNILLKDIL
SVRKYWCEISQQQWLELFSVYFRLYLKPSQDVHRVLVARIIHAVTKGCCS
QTDGLNSKFLDFFSKAIQCARQEKSSSGLNHILAALTIFLKTLAVNFRIR
VCELGDEILPTLLYIWTQHRLNDSLKEVIIELFQLQIYIHHPKGAKTQEK
GAYESTKWRSILYNLYDLLVNEISHIGSRGKYSSGFRNIAVKENLIELMA
DICHQVFNEDTRSLEISQSYTTTQRESSDYSVPCKRKKIELGWEVIKDHL
QKSQNDFDLVPWLQIATQLISKYPASLPNCELSPLLMILSQLLPQQRHGE
RTPYVLRCLTEVALCQDKRSNLESSQKSDLLKLWNKIWCITFRGISSEQI
QAENFGLLGAIIQGSLVEVDREFWKLFTGSACRPSCPAVCCLTLALTTSI
VPGTVKMGIEQNMCEVNRSFSLKESIMKWLLFYQLEGDLENSTEVPPILH
SNFPHLVLEKILVSLTMKNCKAAMNFFQSVPECEHHQKDKEELSFSEVEE
LFLQTTFDKMDFLTIVRECGIEKHQSSIGFSVHQNLKESLDRCLLGLSEQ
LLNNYSSEITNSETLVRCSRLLVGVLGCYCYMGVIAEEEAYKSELFQKAK
SLMQCAGESITLFKNKTNEEFRIGSLRNMMQLCTRCLSNCTKKSPNKIAS
GFFLRLLTSKLMNDIADICKSLASFIKKPFDRGEVESMEDDTNGNLMEVE
DQSSMNLFNDYPDSSVSDANEPGESQSTIGAINPLAEEYLSKQDLLFLDM
LKFLCLCVTTAQTNTVSFRAADIRRKLLMLIDSSTLEPTKSLHLHMYLML
LKELPGEEYPLPMEDVLELLKPLSNVCSLYRRDQDVCKTILNHVLHVVKN
LGQSNMDSENTRDAQGQFLTVIGAFWHLTKERKYIFSVRMALVNCLKTLL
EADPYSKWAILNVMGKDFPVNEVFTQFLADNHHQVRMLAAESINRLFQDT
KGDSSRLLKALPLKLQQTAFENAYLKAQEGMREMSHSAENPETLDEIYNR
KSVLLTLIAVVLSCSPICEKQALFALCKSVKENGLEPHLVKKVLEKVSET
FGYRRLEDFMASHLDYLVLEWLNLQDTEYNLSSFPFILLNYTNIEDFYRS
CYKVLIPHLVIRSHFDEVKSIANQIQEDWKSLLTDCFPKILVNILPYFAY
EGTRDSGMAQQRETATKVYDMLKSENLLGKQIDHLFISNLPEIVVELLMT
LHEPANSSASQSTDLCDFSGDLDPAPNPPHFPSHVIKATFAYISNCHKTK
LKSILEILSKSPDSYQKILLAICEQAAETNNVYKKHRILKIYHLFVSLLL
KDIKSGLGGAWAFVLRDVIYTLIHYINQRPSCIMDVSLRSFSLCCDLLSQ
VCQTAVTYCKDALENHLHVIVGTLIPLVYEQVEVQKQVLDLLKYLVIDNK
DNENLYITIKLLDPFPDHVVFKDLRITQQKIKYSRGPFSLLEEINHFLSV
SVYDALPLTRLEGLKDLRRQLELHKDQMVDIMRASQDNPQDGIMVKLVVN
LLQLSKMAINHTGEKEVLEAVGSCLGEVGPIDFSTIAIQHSKDASYTKAL
KLFEDKELQWTFIMLTYLNNTLVEDCVKVRSAAVTCLKNILATKTGHSFW
EIYKMTTDPMLAYLQPFRTSRKKFLEVPRFDKENPFEGLDDINLWIPLSE
NHDIWIKTLTCAFLDSGGTKCEILQLLKPMCEVKTDFCQTVLPYLIHDIL
LQDTNESWRNLLSTHVQGFFTSCLRHFSQTSRSTTPANLDSESEHFFRCC
LDKKSQRTMLAVVDYMRRQKRPSSGTIFNDAFWLDLNYLEVAKVAQSCAA
HFTALLYAEIYADKKSMDDQEKRSLAFEEGSQSTTISSLSEKSKEETGIS
LQDLLLEIYRSIGEPDSLYGCGGGKMLQPITRLRTYEHEAMWGKALVTYD
LETAIPSSTRQAGIIQALQNLGLCHILSVYLKGLDYENKDWCPELEELHY
QAAWRNMQWDHCTSVSKEVEGTSYHESLYNALQSLRDREFSTFYESLKYA
RVKEVEEMCKRSLESVYSLYPTLSRLQAIGELESIGELFSRSVTHRQLSE
VYIKWQKHSQLLKDSDFSFQEPIMALRTVILEILMEKEMDNSQRECIKDI
LTKHLVELSILARTFKNTQLPERAIFQIKQYNSVSCGVSEWQLEEAQVFW
AKKEQSLALSILKQMIKKLDASCAANNPSLKLTYTECLRVCGNWLAETCL
ENPAVIMQTYLEKAVEVAGNYDGESSDELRNGKMKAFLSLARFSDTQYQR
IENYMKSSEFENKQALLKRAKEEVGLLREHKIQTNRYTVKVQRELELDEL
ALRALKEDRKRFLCKAVENYINCLLSGEEHDMWVFRLCSLWLENSGVSEV
NGMMKRDGMKIPTYKFLPLMYQLAARMGTKMMGGLGFHEVLNNLISRISM
DHPHHTLFIILALANANRDEFLTKPEVARRSRITKNVPKQSSQLDEDRTE
AANRIICTIRSRRPQMVRSVEALCDAYIILANLDATQWKTQRKGINIPAD
QPITKLKNLEDVVVPTMEIKVDHTGEYGNLVTIQSFKAEFRLAGGVNLPK
IIDCVGSDGKERRQLVKGRDDLRQDAVMQQVFQMCNTLLQRNTETRKRKL
TICTYKVVPLSQRSGVLEWCTGTVPIGEFLVNNEDGAHKRYRPNDFSAFQ
CQKKMMEVQKKSFEEKYEVFMDVCQNFQPVFRYFCMEKFLDPAIWFEKRL
AYTRSVATSSIVGYILGLGDRHVQNILINEQSAELVHIDLGVAFEQGKIL
PTPETVPFRLTRDIVDGMGITGVEGVFRRCCEKTMEVMRNSQETLLTIVE
VLLYDPLFDWTMNPLKALYLQQRPEDETELHPTLNADDQECKRNLSDIDQ
SFNKVAERVLMRLQEKLKGVEEGTVLSVGGQVNLLIQQAIDPKNLSRLFP
GWKAWV

ATM (Homo sapiens) is able to recognize following damages:
References:

Title Authors Journal
A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, Tagle DA, Smith S, Uziel T, Sfez S, Ashkenazi M, Pecker I, Frydman M, Harnik R, Patanjali SR, Simmons A, Clines GA, Sartiel A, Gatti RA, Chessa L, Sanal O, Lavin MF, Jaspers NG, Taylor AM, Arlett CF, Miki T, Weissman SM, Lovett M, Collins FS, Shiloh Y Science June 23, 1995
The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. Savitsky K, Sfez S, Tagle DA, Ziv Y, Sartiel A, Collins FS, Shiloh Y, Rotman G Hum Mol Genet Nov. 1, 1995
Genomic organization of the ATM locus involved in ataxia-telangiectasia. Rasio D, Negrini M, Croce CM Cancer Res Dec. 15, 1995
Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia. Vorechovsky I, Luo L, Prudente S, Chessa L, Russo G, Kanariou M, James M, Negrini M, Webster AD, Hammarstrom L Eur J Hum Genet Jan. 1, 1996
Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia. Byrd PJ, McConville CM, Cooper P, Parkhill J, Stankovic T, McGuire GM, Thick JA, Taylor AM Hum Mol Genet Feb. 1, 1996
Predominance of null mutations in ataxia-telangiectasia. Gilad S, Khosravi R, Shkedy D, Uziel T, Ziv Y, Savitsky K, Rotman G, Smith S, Chessa L, Jorgensen TJ, Harnik R, Frydman M, Sanal O, Portnoi S, Goldwicz Z, Jaspers NG, Gatti RA, Lenoir G, Lavin MF, Tatsumi K, Wegner RD, Shiloh Y, Bar-Shira A Hum Mol Genet April 1, 1996
The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation. Vorechovsky I, Rasio D, Luo L, Monaco C, Hammarstrom L, Webster AD, Zaloudik J, Barbanti-Brodani G, James M, Russo G, et al. Cancer Res June 15, 1996
Mutations associated with variant phenotypes in ataxia-telangiectasia. McConville CM, Stankovic T, Byrd PJ, McGuire GM, Yao QY, Lennox GG, Taylor MR Am J Hum Genet Aug. 1, 1996
New mutations in the ataxia telangiectasia gene. Baumer A, Bernthaler U, Wolz W, Hoehn H, Schindler D Hum Genet Aug. 1, 1996
ATM mutations in cancer families. Vorechovsky I, Luo L, Lindblom A, Negrini M, Webster AD, Croce CM, Hammarstrom L Cancer Res Sept. 15, 1996
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. Wright J, Teraoka S, Onengut S, Tolun A, Gatti RA, Ochs HD, Concannon P Am J Hum Genet Oct. 1, 1996
The product of the ATM gene is a 370-kDa nuclear phosphoprotein. Chen G, Lee EYHP J Biol Chem Dec. 27, 1996
ATM gene product phosphorylates I kappa B-alpha. Jung M, Kondratyev A, Lee SA, Dimtchev A, Dritschilo A Cancer Res Feb. 1, 1997
The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage. Brown KD, Ziv Y, Sadanandan SN, Chessa L, Collins FS, Shiloh Y, Tagle DA Proc Natl Acad Sci U S A March 4, 1997
Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms. Watters D, Khanna KK, Beamish H, Birrell G, Spring K, Kedar P, Gatei M, Stenzel D, Hobson K, Kozlov S, Zhang N, Farrell A, Ramsay J, Gatti R, Lavin M Oncogene April 24, 1997
Ataxia-telangiectasia: structural diversity of untranslated sequences suggests complex post-transcriptional regulation of ATM gene expression. Savitsky K, Platzer M, Uziel T, Gilad S, Sartiel A, Rosenthal A, Elroy-Stein O, Shiloh Y, Rotman G Nucleic Acids Res May 1, 1997
Interaction between ATM protein and c-Abl in response to DNA damage. Shafman T, Khanna KK, Kedar P, Spring K, Kozlov S, Yen T, Hobson K, Gatei M, Zhang N, Watters D, Egerton M, Shiloh Y, Kharbanda S, Kufe D, Lavin MF Nature May 1, 1997
Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene. Platzer M, Rotman G, Bauer D, Uziel T, Savitsky K, Bar-Shira A, Gilad S, Shiloh Y, Rosenthal A Genome Res June 1, 1997
Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia. Vorechovsky I, Luo L, Dyer MJ, Catovsky D, Amlot PL, Yaxley JC, Foroni L, Hammarstrom L, Webster AD, Yuille MA Nat Genet Sept. 1, 1997
Biallelic mutations in the ATM gene in T-prolymphocytic leukemia. Stilgenbauer S, Schaffner C, Litterst A, Liebisch P, Gilad S, Bar-Shira A, James MR, Lichter P, Dohner H Nat Med Oct. 1, 1997
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Stankovic T, Kidd AM, Sutcliffe A, McGuire GM, Robinson P, Weber P, Bedenham T, Bradwell AR, Easton DF, Lennox GG, Haites N, Byrd PJ, Taylor AM Am J Hum Genet Jan. 1, 1998
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. van Belzen MJ, Hiel JA, Weemaes CM, Gabreels FJ, van Engelen BG, Smeets DF, van den Heuvel LP Hum Genet Jan. 1, 1998
ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. Sasaki T, Tian H, Kukita Y, Inazuka M, Tahira T, Imai T, Yamauchi M, Saito T, Hori T, Hashimoto-Tamaoki T, Komatsu K, Nikaido O, Hayashi K Hum Mutat Jan. 1, 1998
ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population. Broeks A, de Klein A, Floore AN, Muijtjens M, Kleijer WJ, Jaspers NG, van 't Veer LJ Hum Mutat Jan. 1, 1998
Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutations. Fukao T, Song XQ, Yoshida T, Tashita H, Kaneko H, Teramoto T, Inoue R, Katamura K, Mayumi M, Hiratani M, Taniguchi N, Arai J, Wakiguchi H, Bar-Shira A, Shiloh Y, Kondo N Hum Mutat Jan. 1, 1998
ATM is usually rearranged in T-cell prolymphocytic leukaemia. Yuille MA, Coignet LJ, Abraham SM, Yaqub F, Luo L, Matutes E, Brito-Babapulle V, Vorechovsky I, Dyer MJ, Catovsky D Oncogene Jan. 12, 1998
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. Telatar M, Teraoka S, Wang Z, Chun HH, Liang T, Castellvi-Bel S, Udar N, Borresen-Dale AL, Chessa L, Bernatowska-Matuszkiewicz E, Porras O, Watanabe M, Junker A, Concannon P, Gatti RA Am J Hum Genet Feb. 1, 1998
Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain. Toyoshima M, Hara T, Zhang H, Yamamoto T, Akaboshi S, Nanba E, Ohno K, Hori N, Sato K, Takeshita K Am J Med Genet Feb. 13, 1998
Genotype-phenotype relationships in ataxia-telangiectasia and variants. Gilad S, Chessa L, Khosravi R, Russell P, Galanty Y, Piane M, Gatti RA, Jorgensen TJ, Shiloh Y, Bar-Shira A Am J Hum Genet March 1, 1998
Inactivation of the ATM gene in T-cell prolymphocytic leukemias. Stoppa-Lyonnet D, Soulier J, Lauge A, Dastot H, Garand R, Sigaux F, Stern MH Blood May 15, 1998
ATM binds to beta-adaptin in cytoplasmic vesicles. Lim DS, Kirsch DG, Canman CE, Ahn JH, Ziv Y, Newman LS, Darnell RB, Shiloh Y, Kastan MB Proc Natl Acad Sci U S A Aug. 18, 1998
Enhanced phosphorylation of p53 by ATM in response to DNA damage. Banin S, Moyal L, Shieh S, Taya Y, Anderson CW, Chessa L, Smorodinsky NI, Prives C, Reiss Y, Shiloh Y, Ziv Y Science Sept. 11, 1998
Activation of the ATM kinase by ionizing radiation and phosphorylation of p53. Canman CE, Lim DS, Cimprich KA, Taya Y, Tamai K, Sakaguchi K, Appella E, Kastan MB, Siliciano JD Science Sept. 11, 1998
Inhibition of phosphoinositide 3-kinase related kinases by the radiosensitizing agent wortmannin. Sarkaria JN, Tibbetts RS, Busby EC, Kennedy AP, Hill DE, Abraham RT Cancer Res Oct. 1, 1998
ATM associates with and phosphorylates p53: mapping the region of interaction. Khanna KK, Keating KE, Kozlov S, Scott S, Gatei M, Hobson K, Taya Y, Gabrielli B, Chan D, Lees-Miller SP, Lavin MF Nat Genet Dec. 1, 1998
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. Hacia JG, Sun B, Hunt N, Edgemon K, Mosbrook D, Robbins C, Fodor SP, Tagle DA, Collins FS Genome Res Dec. 1, 1998
New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy. Castellvi-Bel S, Sheikhavandi S, Telatar M, Tai LQ, Hwang M, Wang Z, Yang Z, Cheng R, Gatti RA Hum Mutat Jan. 1, 1999
ATM mutations in B-cell chronic lymphocytic leukemia. Bullrich F, Rasio D, Kitada S, Starostik P, Kipps T, Keating M, Albitar M, Reed JC, Croce CM Cancer Res Feb. 1, 1999
Characterization of ATM gene mutations in 66 ataxia telangiectasia families. Sandoval N, Platzer M, Rosenthal A, Dork T, Bendix R, Skawran B, Stuhrmann M, Wegner RD, Sperling K, Banin S, Shiloh Y, Baumer A, Bernthaler U, Sennefelder H, Brohm M, Weber BH, Schindler D Hum Mol Genet Feb. 1, 1999
Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia. Stankovic T, Weber P, Stewart G, Bedenham T, Murray J, Byrd PJ, Moss PA, Taylor AM Lancet Feb. 2, 1999
Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations. Izatt L, Vessey C, Hodgson SV, Solomon E Eur J Hum Genet April 1, 1999
Missense mutations at ATM gene and cancer risk. Vorechovsky I, Luo L, Ortmann E, Steinmann D, Dork T Lancet April 10, 1999
Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia. Schaffner C, Stilgenbauer S, Rappold GA, Dohner H, Lichter P Blood July 15, 1999
Purification and DNA binding properties of the ataxia-telangiectasia gene product ATM. Smith GC, Cary RB, Lakin ND, Hann BC, Teo SH, Chen DJ, Jackson SP Proc Natl Acad Sci U S A Sept. 28, 1999
Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks. Cortez D, Wang Y, Qin J, Elledge SJ Science Nov. 5, 1999
Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer. Izatt L, Greenman J, Hodgson S, Ellis D, Watts S, Scott G, Jacobs C, Liebmann R, Zvelebil MJ, Mathew C, Solomon E Genes Chromosomes Cancer Dec. 1, 1999
Mantle cell lymphoma is characterized by inactivation of the ATM gene. Schaffner C, Idler I, Stilgenbauer S, Dohner H, Lichter P Proc Natl Acad Sci U S A March 14, 2000
ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway. Lim DS, Kim ST, Xu B, Maser RS, Lin J, Petrini JH, Kastan MB Nature April 6, 2000
BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J Genes Dev April 15, 2000
ATM-dependent phosphorylation of nibrin in response to radiation exposure. Gatei M, Young D, Cerosaletti KM, Desai-Mehta A, Spring K, Kozlov S, Lavin MF, Gatti RA, Concannon P, Khanna K Nat Genet May 1, 2000
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. Li A, Swift M Am J Med Genet May 1, 2000
ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. Wu X, Ranganathan V, Weisman DS, Heine WF, Ciccone DN, O'Neill TB, Crick KE, Pierce KA, Lane WS, Rathbun G, Livingston DM, Weaver DT Nature May 25, 2000
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. Becker-Catania SG, Chen G, Hwang MJ, Wang Z, Sun X, Sanal O, Bernatowska-Matuszkiewicz E, Chessa L, Lee EY, Gatti RA Mol Genet Metab June 1, 2000
Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response. Li S, Ting NS, Zheng L, Chen PL, Ziv Y, Shiloh Y, Lee EY, Lee WH Nature July 13, 2000
ATR/ATM-mediated phosphorylation of human Rad17 is required for genotoxic stress responses. Bao S, Tibbetts RS, Brumbaugh KM, Fang Y, Richardson DA, Ali A, Chen SM, Abraham RT, Wang XF Nature June 21, 2001
Telomeric protein Pin2/TRF1 as an important ATM target in response to double strand DNA breaks. Kishi S, Zhou XZ, Ziv Y, Khoo C, Hill DE, Shiloh Y, Lu KP J Biol Chem Aug. 3, 2001
Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways. Taniguchi T, Garcia-Higuera I, Xu B, Andreassen PR, Gregory RC, Kim ST, Lane WS, Kastan MB, D'Andrea AD Cell May 17, 2002
DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. Bakkenist CJ, Kastan MB Nature Feb. 1, 2003
Identification of a novel protein kinase mediating Akt survival signaling to the ATM protein. Suzuki A, Kusakai G, Kishimoto A, Lu J, Ogura T, Lavin MF, Esumi H J Biol Chem Feb. 3, 2003
Large-scale characterization of HeLa cell nuclear phosphoproteins. Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP Proc Natl Acad Sci U S A Aug. 17, 2004
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J Genome Res Oct. 1, 2004
Artemis is a phosphorylation target of ATM and ATR and is involved in the G2/M DNA damage checkpoint response. Zhang X, Succi J, Feng Z, Prithivirajsingh S, Story MD, Legerski RJ Mol Cell Biol Oct. 1, 2004
The haploinsufficient tumor suppressor p18 upregulates p53 via interactions with ATM/ATR. Park BJ, Kang JW, Lee SW, Choi SJ, Shin YK, Ahn YH, Choi YH, Choi D, Lee KS, Kim S Cell Feb. 28, 2005
Involvement of human MOF in ATM function. Gupta A, Sharma GG, Young CS, Agarwal M, Smith ER, Paull TT, Lucchesi JC, Khanna KK, Ludwig T, Pandita TK Mol Cell Biol June 1, 2005
Regulated degradation of replication-dependent histone mRNAs requires both ATR and Upf1. Kaygun H, Marzluff WF Nat Struct Mol Biol Sept. 1, 2005
A role for the Tip60 histone acetyltransferase in the acetylation and activation of ATM. Sun Y, Jiang X, Chen S, Fernandes N, Price BD Proc Natl Acad Sci U S A Sept. 13, 2005
Human chromosome 11 DNA sequence and analysis including novel gene identification. Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E, Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K, Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC, Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES, Sakaki Y Nature March 23, 2006
Involvement of novel autophosphorylation sites in ATM activation. Kozlov SV, Graham ME, Peng C, Chen P, Robinson PJ, Lavin MF EMBO J Aug. 9, 2006
Patterns of somatic mutation in human cancer genomes. Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, Bignell G, Davies H, Teague J, Butler A, Stevens C, Edkins S, O'Meara S, Vastrik I, Schmidt EE, Avis T, Barthorpe S, Bhamra G, Buck G, Choudhury B, Clements J, Cole J, Dicks E, Forbes S, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, Webb T, West S, Widaa S, Yates A, Cahill DP, Louis DN, Goldstraw P, Nicholson AG, Brasseur F, Looijenga L, Weber BL, Chiew YE, DeFazio A, Greaves MF, Green AR, Campbell P, Birney E, Easton DF, Chenevix-Trench G, Tan MH, Khoo SK, Teh BT, Yuen ST, Leung SY, Wooster R, Futreal PA, Stratton MR Nature March 8, 2007
ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ Science May 25, 2007
ATMIN defines an NBS1-independent pathway of ATM signalling. Kanu N, Behrens A EMBO J June 20, 2007
DNA damage-induced acetylation of lysine 3016 of ATM activates ATM kinase activity. Sun Y, Xu Y, Roy K, Price BD Mol Cell Biol Dec. 1, 2007
Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1. Sivasubramaniam S, Sun X, Pan YR, Wang S, Lee EY Genes Dev March 1, 2008
Single-stranded DNA-binding protein hSSB1 is critical for genomic stability. Richard DJ, Bolderson E, Cubeddu L, Wadsworth RI, Savage K, Sharma GG, Nicolette ML, Tsvetanov S, McIlwraith MJ, Pandita RK, Takeda S, Hay RT, Gautier J, West SC, Paull TT, Pandita TK, White MF, Khanna KK Nature May 1, 2008
Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M Mol Cell Aug. 8, 2008
Large-scale proteomics analysis of the human kinome. Oppermann FS, Gnad F, Olsen JV, Hornberger R, Greff Z, Keri G, Mann M, Daub H Mol Cell Proteomics July 1, 2009
Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly. Kaizuka T, Hara T, Oshiro N, Kikkawa U, Yonezawa K, Takehana K, Iemura S, Natsume T, Mizushima N J Biol Chem June 25, 2010


Last modification of this entry: Oct. 18, 2010.

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