Ataxia telangiectasia mutated


Ataxia telangiectasia mutated

Ataxia telangiectasia mutated (ATM) is a serine/threonine-specific protein kinase (EC number|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.

PBB_Summary
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summary_text = 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. [cite web | title = Entrez Gene: ATM ataxia telangiectasia mutated (includes complementation groups A, C and D)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=472| accessdate = ]

References

Further reading

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


External links

* http://www.hprd.org/protein/06347

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