Ataxia Telangiectasia Mutated (ATM)


AT1; ATD; ATA; ATC; ATDC; ATE; TEL1; TELO1; Serine-protein kinase ATM

Ataxia Telangiectasia Mutated (ATM)

Ataxia telangiectasia mutated (ATM) is a protein  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. Two transcript variants encoding different isoforms have been found for this gene.

Organism species: Homo sapiens (Human)

Proteins RPB361Hu01 Recombinant Ataxia Telangiectasia Mutated (ATM) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB361Hu01 Polyclonal Antibody to Ataxia Telangiectasia Mutated (ATM) WB; IHC; ICC; IP.
MAB361Hu22 Monoclonal Antibody to Ataxia Telangiectasia Mutated (ATM) WB; IHC; ICC; IP.
Assay Kits SEB361Hu ELISA Kit for Ataxia Telangiectasia Mutated (ATM) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

Proteins RPB361Mu01 Recombinant Ataxia Telangiectasia Mutated (ATM) Positive Control; Immunogen; SDS-PAGE; WB.
RPB361Mu02 Recombinant Ataxia Telangiectasia Mutated (ATM) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAB361Mu01 Polyclonal Antibody to Ataxia Telangiectasia Mutated (ATM) WB; IHC; ICC; IP.
PAB361Mu02 Polyclonal Antibody to Ataxia Telangiectasia Mutated (ATM) WB; IHC; ICC; IP.
Assay Kits SEB361Mu ELISA Kit for Ataxia Telangiectasia Mutated (ATM) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

Proteins n/a Recombinant Ataxia Telangiectasia Mutated (ATM) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ataxia Telangiectasia Mutated (ATM) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ataxia Telangiectasia Mutated (ATM) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ataxia Telangiectasia Mutated (ATM) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ataxia Telangiectasia Mutated (ATM) ELISA Kit Customized Service Offer
  1. "The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species."Hum. Mol. Genet. 4:2025-2032(1995) [PubMed] [Europe PMC] [Abstract]
  2. "The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation."Cancer Res. 56:2726-2732(1996) [PubMed] [Europe PMC] [Abstract]
  3. "Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene."Genome Res. 7:592-605(1997) [PubMed] [Europe PMC] [Abstract]
  4. "Human chromosome 11 DNA sequence and analysis including novel gene identification." Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
  5. "Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia."Hum. Mol. Genet. 5:145-149(1996) [PubMed] [Europe PMC] [Abstract]
  6. "Ataxia-telangiectasia: structural diversity of untranslated sequences suggests complex post-transcriptional regulation of ATM gene expression."Nucleic Acids Res. 25:1678-1684(1997) [PubMed] [Europe PMC] [Abstract]
  7. "A single ataxia telangiectasia gene with a product similar to PI-3 kinase." Science 268:1749-1753(1995) [PubMed] [Europe PMC] [Abstract]
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  9. "Genomic organization of the ATM locus involved in ataxia-telangiectasia."Cancer Res. 55:6053-6057(1995) [PubMed] [Europe PMC] [Abstract]
  10. "The product of the ATM gene is a 370-kDa nuclear phosphoprotein."J. Biol. Chem. 271:33693-33697(1996) [PubMed] [Europe PMC] [Abstract]
  11. "The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage."Proc. Natl. Acad. Sci. U.S.A. 94:1840-1845(1997) [PubMed] [Europe PMC] [Abstract]
  12. "Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms."Oncogene 14:1911-1921(1997) [PubMed] [Europe PMC] [Abstract]
  13. "ATM gene product phosphorylates I kappa B-alpha."Cancer Res. 57:24-27(1997) [PubMed] [Europe PMC] [Abstract]
  14. "Interaction between ATM protein and c-Abl in response to DNA damage."Nature 387:520-523(1997) [PubMed] [Europe PMC] [Abstract]
  15. "Inhibition of phosphoinositide 3-kinase related kinases by the radiosensitizing agent wortmannin."Cancer Res. 58:4375-4382(1998) [PubMed] [Europe PMC] [Abstract]
  16. "ATM associates with and phosphorylates p53: mapping the region of interaction."Nat. Genet. 20:398-400(1998) [PubMed] [Europe PMC] [Abstract]
  17. "ATM binds to beta-adaptin in cytoplasmic vesicles."Proc. Natl. Acad. Sci. U.S.A. 95:10146-10151(1998) [PubMed] [Europe PMC] [Abstract]
  18. "Enhanced phosphorylation of p53 by ATM in response to DNA damage."Science 281:1674-1677(1998) [PubMed] [Europe PMC] [Abstract]
  19. "Activation of the ATM kinase by ionizing radiation and phosphorylation of p53."Science 281:1677-1679(1998) [PubMed] [Europe PMC] [Abstract]
  20. "Purification and DNA binding properties of the ataxia-telangiectasia gene product ATM."Proc. Natl. Acad. Sci. U.S.A. 96:11134-11139(1999) [PubMed] [Europe PMC] [Abstract]
  21. "Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks."Science 286:1162-1166(1999) [PubMed] [Europe PMC] [Abstract]
  22. "BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures."Genes Dev. 14:927-939(2000) [PubMed] [Europe PMC] [Abstract]
  23. "ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway."Nature 404:613-617(2000) [PubMed] [Europe PMC] [Abstract]
  24. "ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response."Nature 405:477-482(2000) [PubMed] [Europe PMC] [Abstract]
  25. "Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response."Nature 406:210-215(2000) [PubMed] [Europe PMC] [Abstract]
  26. "ATM-dependent phosphorylation of nibrin in response to radiation exposure."Nat. Genet. 25:115-119(2000) [PubMed] [Europe PMC] [Abstract]
  27. "Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo and in vitro."Proc. Natl. Acad. Sci. U.S.A. 97:10389-10394(2000) [PubMed] [Europe PMC] [Abstract]
  28. "Telomeric protein Pin2/TRF1 as an important ATM target in response to double strand DNA breaks."J. Biol. Chem. 276:29282-29291(2001) [PubMed] [Europe PMC] [Abstract]
  29. "ATR/ATM-mediated phosphorylation of human Rad17 is required for genotoxic stress responses."Nature 411:969-974(2001) [PubMed] [Europe PMC] [Abstract]
  30. "Convergence of the Fanconi anemia and ataxia telangiectasia signaling pathways."Cell 109:459-472(2002) [PubMed] [Europe PMC] [Abstract]
  31. "Identification of a novel protein kinase mediating Akt survival signaling to the ATM protein."J. Biol. Chem. 278:48-53(2003) [PubMed] [Europe PMC] [Abstract]
  32. "DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation."Nature 421:499-506(2003) [PubMed] [Europe PMC] [Abstract]
  33. "Requirement of protein phosphatase 5 in DNA-damage-induced ATM activation."Genes Dev. 18:249-254(2004) [PubMed] [Europe PMC] [Abstract]
  34. "Artemis is a phosphorylation target of ATM and ATR and is involved in the G2/M DNA damage checkpoint response."Mol. Cell. Biol. 24:9207-9220(2004) [PubMed] [Europe PMC] [Abstract]
  35. "The haploinsufficient tumor suppressor p18 upregulates p53 via interactions with ATM/ATR."Cell 120:209-221(2005) [PubMed] [Europe PMC] [Abstract]
  36. "ATM-dependent phosphorylation of ATF2 is required for the DNA damage response."Mol. Cell 18:577-587(2005) [PubMed] [Europe PMC] [Abstract]
  37. "Involvement of human MOF in ATM function."Mol. Cell. Biol. 25:5292-5305(2005) [PubMed] [Europe PMC] [Abstract]
  38. "Regulated degradation of replication-dependent histone mRNAs requires both ATR and Upf1."Nat. Struct. Mol. Biol. 12:794-800(2005) [PubMed] [Europe PMC] [Abstract]
  39. "A role for the Tip60 histone acetyltransferase in the acetylation and activation of ATM."Proc. Natl. Acad. Sci. U.S.A. 102:13182-13187(2005) [PubMed] [Europe PMC] [Abstract]
  40. "Involvement of novel autophosphorylation sites in ATM activation."EMBO J. 25:3504-3514(2006) [PubMed] [Europe PMC] [Abstract]
  41. "ATMIN defines an NBS1-independent pathway of ATM signalling."EMBO J. 26:2933-2941(2007) [PubMed] [Europe PMC] [Abstract]
  42. "DNA damage-induced acetylation of lysine 3016 of ATM activates ATM kinase activity."Mol. Cell. Biol. 27:8502-8509(2007) [PubMed] [Europe PMC] [Abstract]
  43. "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
  44. "Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1."Genes Dev. 22:587-600(2008) [PubMed] [Europe PMC] [Abstract]
  45. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
  46. "Single-stranded DNA-binding protein hSSB1 is critical for genomic stability."Nature 453:677-681(2008) [PubMed] [Europe PMC] [Abstract]
  47. "A role for DEAD box 1 at DNA double-strand breaks."Mol. Cell. Biol. 28:6413-6425(2008) [PubMed] [Europe PMC] [Abstract]
  48. "Large-scale proteomics analysis of the human kinome."Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
  49. "ATM augments nuclear stabilization of DYRK2 by inhibiting MDM2 in the apoptotic response to DNA damage."J. Biol. Chem. 285:4909-4919(2010) [PubMed] [Europe PMC] [Abstract]
  50. "A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability."Genes Dev. 24:1939-1950(2010) [PubMed] [Europe PMC] [Abstract]
  51. "Tel2 structure and function in the Hsp90-dependent maturation of mTOR and ATR complexes."Genes Dev. 24:2019-2030(2010) [PubMed] [Europe PMC] [Abstract]
  52. "Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly."J. Biol. Chem. 285:20109-20116(2010) [PubMed] [Europe PMC] [Abstract]
  53. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  54. "Protein phosphatase 5 is necessary for ATR-mediated DNA repair."Biochem. Biophys. Res. Commun. 404:476-481(2011) [PubMed] [Europe PMC] [Abstract]
  55. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
  56. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  57. "Mutations associated with variant phenotypes in ataxia-telangiectasia."Am. J. Hum. Genet. 59:320-330(1996) [PubMed] [Europe PMC] [Abstract]
  58. "A high frequency of distinct ATM gene mutations in ataxia-telangiectasia."Am. J. Hum. Genet. 59:839-846(1996) [PubMed] [Europe PMC] [Abstract]
  59. "ATM mutations in cancer families."Cancer Res. 56:4130-4133(1996) [PubMed] [Europe PMC] [Abstract]
  60. "Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia."Eur. J. Hum. Genet. 4:352-355(1996) [PubMed] [Europe PMC] [Abstract]
  61. "New mutations in the ataxia telangiectasia gene."Hum. Genet. 98:246-249(1996) [PubMed] [Europe PMC] [Abstract]
  62. "Predominance of null mutations in ataxia-telangiectasia." Hum. Mol. Genet. 5:433-439(1996) [PubMed] [Europe PMC] [Abstract]
  63. "Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia."Nat. Genet. 17:96-99(1997) [PubMed] [Europe PMC] [Abstract]
  64. "Biallelic mutations in the ATM gene in T-prolymphocytic leukemia."Nat. Med. 3:1155-1159(1997) [PubMed] [Europe PMC] [Abstract]
  65. "Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations."Am. J. Hum. Genet. 62:86-97(1998) [PubMed] [Europe PMC] [Abstract]
  66. "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."Am. J. Hum. Genet. 62:334-345(1998) [PubMed] [Europe PMC] [Abstract]
  67. "Genotype-phenotype relationships in ataxia-telangiectasia and variants."Am. J. Hum. Genet. 62:551-561(1998) [PubMed] [Europe PMC] [Abstract]
  68. "Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain."Am. J. Med. Genet. 75:141-144(1998) [PubMed] [Europe PMC] [Abstract]
  69. "Inactivation of the ATM gene in T-cell prolymphocytic leukemias."Blood 91:3920-3926(1998) [PubMed] [Europe PMC] [Abstract]
  70. "Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays."Genome Res. 8:1245-1258(1998) [PubMed] [Europe PMC] [Abstract]
  71. "A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia."Hum. Genet. 102:187-191(1998) [PubMed] [Europe PMC] [Abstract]
  72. "ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy."Hum. Mutat. 12:186-195(1998) [PubMed] [Europe PMC] [Abstract]
  73. "ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population."Hum. Mutat. 12:330-337(1998) [PubMed] [Europe PMC] [Abstract]
  74. "Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutations."Hum. Mutat. 12:338-343(1998) [PubMed] [Europe PMC] [Abstract]
  75. "ATM is usually rearranged in T-cell prolymphocytic leukaemia."Oncogene 16:789-796(1998) [PubMed] [Europe PMC] [Abstract]
  76. ErratumOncogene 16:2955-2955(1998)
  77. "Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia."Blood 94:748-753(1999) [PubMed] [Europe PMC] [Abstract]
  78. "ATM mutations in B-cell chronic lymphocytic leukemia."Cancer Res. 59:24-27(1999) [PubMed] [Europe PMC] [Abstract]
  79. "Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations."Eur. J. Hum. Genet. 7:310-320(1999) [PubMed] [Europe PMC] [Abstract]
  80. "Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer."Genes Chromosomes Cancer 26:286-294(1999) [PubMed] [Europe PMC] [Abstract]
  81. "Characterization of ATM gene mutations in 66 ataxia telangiectasia families."Hum. Mol. Genet. 8:69-79(1999) [PubMed] [Europe PMC] [Abstract]
  82. "New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy."Hum. Mutat. 14:156-162(1999) [PubMed] [Europe PMC] [Abstract]
  83. "Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia."Lancet 353:26-29(1999) [PubMed] [Europe PMC] [Abstract]
  84. "Missense mutations at ATM gene and cancer risk."Lancet 353:1276-1276(1999) [PubMed] [Europe PMC] [Abstract]
  85. ErratumLancet 354:780-780(1999)
  86. "Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients."Am. J. Med. Genet. 92:170-177(2000) [PubMed] [Europe PMC] [Abstract]
  87. "Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity."Mol. Genet. Metab. 70:122-133(2000) [PubMed] [Europe PMC] [Abstract]
  88. "Mantle cell lymphoma is characterized by inactivation of the ATM gene."Proc. Natl. Acad. Sci. U.S.A. 97:2773-2778(2000) [PubMed] [Europe PMC] [Abstract]
  89. "Patterns of somatic mutation in human cancer genomes." Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]