Ataxia telangiectasia mutated

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Ataxia telangiectasia mutated (includes complementation groups A, C and D)
Identifiers
Symbol(s) ATM; AT1; ATD; ATA; ATC; ATDC; ATE; DKFZp781A0353; MGC74674; TEL1; TELO1
External IDs OMIM: 607585 MGI: 107202 HomoloGene: 30952
Orthologs
Human Mouse
Entrez 472 11920
Ensembl n/a ENSMUSG00000034218
Uniprot n/a Q3UT15
Refseq NM_000051 (mRNA)
NP_000042 (protein)		 NM_007499 (mRNA)
NP_031525 (protein)
Location n/a Chr 9: 53.2 - 53.3 Mb
Pubmed search [1] [2]

Ataxia telangiectasia mutated (ATM) is a serine/threonine-specific protein kinase (EC 2.7.11.1) that is recruited and activated by DNA double-strand breaks. It phosphorylates several key proteins that initiate activation of the DNA damage checkpoint, leading to cell cycle arrest, DNA repair or apoptosis. Several of these targets, including p53, CHK2, BRCA1, and H2AX are tumor suppressors.


The protein is named for the disorder Ataxia telangiectasia caused by mutations of ATM.


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. Two transcript variants encoding different isoforms have been found for this gene.[1]

[edit] References

  1. ^ Entrez Gene: ATM ataxia telangiectasia mutated (includes complementation groups A, C and D).

[edit] Further reading

  • Giaccia AJ, Kastan MB (1998). "The complexity of p53 modulation: emerging patterns from divergent signals.". Genes Dev. 12 (19): 2973–83. PMID 9765199. 
  • Kastan MB, Lim DS (2001). "The many substrates and functions of ATM.". Nat. Rev. Mol. Cell Biol. 1 (3): 179–86. doi:10.1038/35043058. PMID 11252893. 
  • Shiloh Y (2002). "ATM: from phenotype to functional genomics--and back.". Ernst Schering Res. Found. Workshop (36): 51–70. PMID 11859564. 
  • Redon C, Pilch D, Rogakou E, et al. (2002). "Histone H2A variants H2AX and H2AZ.". Curr. Opin. Genet. Dev. 12 (2): 162–9. PMID 11893489. 
  • Tang Y (2003). "[ATM and Cancer]". Zhongguo Shi Yan Xue Ye Xue Za Zhi 10 (1): 77–80. PMID 12513844. 
  • Shiloh Y (2003). "ATM and related protein kinases: safeguarding genome integrity.". Nat. Rev. Cancer 3 (3): 155–68. doi:10.1038/nrc1011. PMID 12612651. 
  • Gumy-Pause F, Wacker P, Sappino AP (2004). "ATM gene and lymphoid malignancies.". Leukemia 18 (2): 238–42. doi:10.1038/sj.leu.2403221. PMID 14628072. 
  • Kurz EU, Lees-Miller SP (2005). "DNA damage-induced activation of ATM and ATM-dependent signaling pathways.". DNA Repair (Amst.) 3 (8-9): 889–900. doi:10.1016/j.dnarep.2004.03.029. PMID 15279774. 
  • Abraham RT (2005). "The ATM-related kinase, hSMG-1, bridges genome and RNA surveillance pathways.". DNA Repair (Amst.) 3 (8-9): 919–25. doi:10.1016/j.dnarep.2004.04.003. PMID 15279777. 
  • Lavin MF, Scott S, Gueven N, et al. (2005). "Functional consequences of sequence alterations in the ATM gene.". DNA Repair (Amst.) 3 (8-9): 1197–205. doi:10.1016/j.dnarep.2004.03.011. PMID 15279808. 
  • Meulmeester E, Pereg Y, Shiloh Y, Jochemsen AG (2006). "ATM-mediated phosphorylations inhibit Mdmx/Mdm2 stabilization by HAUSP in favor of p53 activation.". Cell Cycle 4 (9): 1166–70. PMID 16082221. 
  • Ahmed M, Rahman N (2006). "ATM and breast cancer susceptibility.". Oncogene 25 (43): 5906–11. doi:10.1038/sj.onc.1209873. PMID 16998505. 


[edit] External links

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v • d • e
Kinases: Serine/threonine-specific protein kinases (primarily EC 2.7.11)
2.7.11
2.7.12
MAP2K (1, 2, 3, 4, 5, 6, 7)
2.7.1.37, or unknown
Languages