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Gene Ontology Classifications
ataxia telangiectasia mutated

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GO curators for mouse genes have assigned the following annotations to the gene product of Atm. (This text reflects annotations as of Tuesday, May 26, 2015.)
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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, Aug 2010]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
  1. Chong MJ et al. (2000) Atm and Bax cooperate in ionizing radiation-induced apoptosis in the central nervous system. Proc Natl Acad Sci U S A, 97:889-94. (PubMed:10639175)
  2. Di Giacomo M et al. (2005) Distinct DNA-damage-dependent and -independent responses drive the loss of oocytes in recombination-defective mouse mutants. Proc Natl Acad Sci U S A, 102:737-42. (PubMed:15640358)
  3. Frappart PO et al. (2007) BRCA2 is required for neurogenesis and suppression of medulloblastoma. EMBO J, 26:2732-42. (PubMed:17476307)
  4. Gladdy RA et al. (2006) p53-Independent apoptosis disrupts early organogenesis in embryos lacking both ataxia-telangiectasia mutated and Prkdc. Mol Cancer Res, 4:311-8. (PubMed:16687486)
  5. Hewitt SL et al. (2009) RAG-1 and ATM coordinate monoallelic recombination and nuclear positioning of immunoglobulin loci. Nat Immunol, 10:655-64. (PubMed:19448632)
  6. Kirshner M et al. (2009) Analysis of the relationships between ATM and the Rad54 paralogs involved in homologous recombination repair. DNA Repair (Amst), 8:253-61. (PubMed:19061978)
  7. Lee BS et al. (2013) Functional intersection of ATM and DNA-dependent protein kinase catalytic subunit in coding end joining during V(D)J recombination. Mol Cell Biol, 33:3568-79. (PubMed:23836881)
  8. Lee Y et al. (2000) Defective neurogenesis resulting from DNA ligase IV deficiency requires Atm Genes Dev, 14:2576-80. (PubMed:11040211)
  9. Liu J et al. (2004) Serine-threonine kinases and transcription factors active in signal transduction are detected at high levels of phosphorylation during mitosis in preimplantation embryos and trophoblast stem cells. Reproduction, 128:643-654. (PubMed:15509711)
  10. Morita Y et al. (2001) Caspase-2 deficiency prevents programmed germ cell death resulting from cytokine insufficiency but not meiotic defects caused by loss of ataxia telangiectasia-mutated (Atm) gene function. Cell Death Differ, 8:614-20. (PubMed:11536012)
  11. Orii KE et al. (2006) Selective utilization of nonhomologous end-joining and homologous recombination DNA repair pathways during nervous system development. Proc Natl Acad Sci U S A, 103:10017-22. (PubMed:16777961)
  12. Park BJ et al. (2005) The haploinsufficient tumor suppressor p18 upregulates p53 via interactions with ATM/ATR. Cell, 120:209-21. (PubMed:15680327)
  13. Sekiguchi J et al. (2001) Genetic interactions between ATM and the nonhomologous end-joining factors in genomic stability and development. Proc Natl Acad Sci U S A, 98:3243-8. (PubMed:11248063)
  14. Sengupta S et al. (2004) Functional interaction between BLM helicase and 53BP1 in a Chk1-mediated pathway during S-phase arrest. J Cell Biol, 166:801-13. (PubMed:15364958)
  15. Shima N et al. (2004) The Mouse Genomic Instability Mutation chaos1 Is an Allele of Polq That Exhibits Genetic Interaction with Atm. Mol Cell Biol, 24:10381-9. (PubMed:15542845)
  16. Stern N et al. (2002) Accumulation of DNA damage and reduced levels of nicotine adenine dinucleotide in the brains of Atm-deficient mice. J Biol Chem, 277:602-8. (PubMed:11679583)
  17. Wu D et al. (2005) Heterozygous mutation of ataxia-telangiectasia mutated gene aggravates hypercholesterolemia in apoE-deficient mice. J Lipid Res, 46:1380-7. (PubMed:15863839)
  18. Yuan L et al. (2003) DNA damage-induced G2/M checkpoint in SV40 large T antigen-immortalized embryonic fibroblast cells requires SHP-2 tyrosine phosphatase. J Biol Chem, 278:42812-20. (PubMed:12937170)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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