ID   AT1ABR
AC   CVCL_M911
SY   Ataxia Telangiectasia 1 Australia BRisbane
DR   BTO; BTO:0006125
DR   Wikidata; Q54750838
RX   PubMed=2836804;
RX   PubMed=6197197;
RX   PubMed=6228733;
RX   PubMed=6504056;
RX   PubMed=7433105;
RX   PubMed=7792600;
RX   PubMed=8845835;
RX   PubMed=9150358;
RX   PubMed=9168117;
RX   PubMed=11080496;
RX   PubMed=12195425;
RX   PubMed=16166284;
RX   PubMed=21149446;
CC   From: Queensland Institute of Medical Research; Brisbane; Australia.
CC   Sequence variation: Mutation; HGNC; 795; ATM; Simple; p.Arg2547_Ser2549del (c.7638_7646delTAGAATTTC) (7636del9); ClinVar=VCV000003019; Zygosity=Homozygous (PubMed=7792600; PubMed=9150358).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2887; Ataxia telangiectasia syndrome
DI   ORDO; Orphanet_100; Ataxia telangiectasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Age unspecified
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 17
//
RX   PubMed=2836804; DOI=10.1093/nar/16.9.3919;
RA   Singh S.P., Mohamed R., Salmond C., Lavin M.F.;
RT   "Reduced DNA topoisomerase II activity in ataxia-telangiectasia
RT   cells.";
RL   Nucleic Acids Res. 16:3919-3929(1988).
//
RX   PubMed=6197197; DOI=10.1016/0009-2797(83)90167-9;
RA   Imray F.P., Kidson C.;
RT   "Responses of Huntington's disease and ataxia telangiectasia
RT   lymphoblastoid cells to bleomycin.";
RL   Chem. Biol. Interact. 47:325-336(1983).
//
RX   PubMed=6228733; DOI=10.1016/0167-8817(83)90030-5;
RA   Imray F.P., Kidson C.;
RT   "Perturbations of cell-cycle progression in gamma-irradiated ataxia
RT   telangiectasia and Huntington's disease cells detected by DNA flow
RT   cytometric analysis.";
RL   Mutat. Res. 112:369-382(1983).
//
RX   PubMed=6504056; DOI=10.1016/0027-5107(84)90149-0;
RA   Chen P., Imray F.P., Kidson C.;
RT   "Gene dosage and complementation analysis of ataxia telangiectasia
RT   lymphoblastoid cell lines assayed by induced chromosome
RT   aberrations.";
RL   Mutat. Res. 129:165-172(1984).
//
RX   PubMed=7433105; DOI=10.1093/nar/8.16.3709;
RA   Houldsworth J., Lavin M.F.;
RT   "Effect of ionizing radiation on DNA synthesis in ataxia
RT   telangiectasia cells.";
RL   Nucleic Acids Res. 8:3709-3720(1980).
//
RX   PubMed=7792600; DOI=10.1126/science.7792600;
RA   Savitsky K., Bar-Shira A., Gilad S., Rotman G., Ziv Y., Vanagaite L.,
RA   Tagle D.A., Smith S., Uziel T., Sfez S., Ashkenazi M., Pecker I.,
RA   Frydman M., Harnik R., Patanjali S.R., Simmons A.D., Clines G.A.,
RA   Sartiel A., Gatti R.A., Chessa L., Sanal O., Lavin M.F.,
RA   Jaspers N.G.J., Taylor A.M.R., Arlett C.F., Miki T., Weissman S.M.,
RA   Lovett M., Collins F.S., Shiloh Y.;
RT   "A single ataxia telangiectasia gene with a product similar to PI-3
RT   kinase.";
RL   Science 268:1749-1753(1995).
//
RX   PubMed=8845835; DOI=10.1093/hmg/5.4.433;
RA   Gilad S., Khosravi R., Shkedy D., Uziel T., Ziv Y., Savitsky K.,
RA   Rotman G., Smith S., Chessa L., Jorgensen T.J., Harnik R., Frydman M.,
RA   Sanal O., Portnoi S., Goldwicz Z., Jaspers N.G.J., Gatti R.A.,
RA   Lenoir G.M., Lavin M.F., Tatsumi K., Wegner R.-D., Shiloh Y.,
RA   Bar-Shira A.;
RT   "Predominance of null mutations in ataxia-telangiectasia.";
RL   Hum. Mol. Genet. 5:433-439(1996).
//
RX   PubMed=9150358; DOI=10.1038/sj.onc.1201037;
RA   Watters D., Khanna K.K., Beamish H.J., Birrell G., Spring K., Kedar P.,
RA   Gatei M., Stenzel D., Hobson K., Kozlov S., Zhang N., Farrell A.,
RA   Ramsay J., Gatti R.A., Lavin M.F.;
RT   "Cellular localisation of the ataxia-telangiectasia (ATM) gene product
RT   and discrimination between mutated and normal forms.";
RL   Oncogene 14:1911-1921(1997).
//
RX   PubMed=9168117; DOI=10.1038/387520a0;
RA   Shafman T., Khanna K.K., Kedar P., Spring K., Kozlov S., Yen T.J.,
RA   Hobson K., Gatei M., Zhang N., Watters D., Egerton M., Shiloh Y.,
RA   Kharbanda S., Kufe D.W., Lavin M.F.;
RT   "Interaction between ATM protein and c-Abl in response to DNA
RT   damage.";
RL   Nature 387:520-523(1997).
//
RX   PubMed=11080496; DOI=10.1074/jbc.M006190200;
RA   Gueven N., Keating K.E., Chen P., Fukao T., Khanna K.K., Watters D.,
RA   Rodemann P.H., Lavin M.F.;
RT   "Epidermal growth factor sensitizes cells to ionizing radiation by
RT   down-regulating protein mutated in ataxia-telangiectasia.";
RL   J. Biol. Chem. 276:8884-8891(2001).
//
RX   PubMed=12195425; DOI=10.1038/ng958;
RA   Spring K., Ahangari F., Scott S.P., Waring P., Purdie D.M., Chen P.C.,
RA   Hourigan K., Ramsay J., McKinnon P.J., Swift M., Lavin M.F.;
RT   "Mice heterozygous for mutation in Atm, the gene involved in
RT   ataxia-telangiectasia, have heightened susceptibility to cancer.";
RL   Nat. Genet. 32:185-190(2002).
//
RX   PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198;
RA   Araten D.J., Golde D.W., Zhang R.H., Thaler H.T., Gargiulo L.,
RA   Notaro R., Luzzatto L.;
RT   "A quantitative measurement of the human somatic mutation rate.";
RL   Cancer Res. 65:8111-8117(2005).
//
RX   PubMed=21149446; DOI=10.1074/jbc.M110.204065;
RA   Kozlov S.V., Graham M.E., Jakob B., Tobias F., Kijas A.W., Tanuji M.,
RA   Chen P., Robinson P.J., Taucher-Scholz G., Suzuki K., So S., Chen D.,
RA   Lavin M.F.;
RT   "Autophosphorylation and ATM activation: additional sites add to the
RT   complexity.";
RL   J. Biol. Chem. 286:9107-9119(2011).
//