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ATM

ataxia telangiectasia mutated

On chromosome: 11q22-q23
Known also as: AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1; MGC74674; DKFZp781A0353;

NCBI Gene ID:	472
NCBI Ensembl Id:	ENSG00000149311
MIM Id: (from NCBI OMIM database)	607585
Species:	Homo sapiens

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. [provided by RefSeq]

Gene sequence:

[Download sequence]

Proteins coded by this gene:

ATM (Homo sapiens)

Diseases related to this gene:

References:

Authors	Title	Journal
Maya R, Balass M, Kim ST, Shkedy D, Leal JF, Shifman O, Moas M, Buschmann T, Ronai Z, Shiloh Y, Kastan MB, Katzir E, Oren M	ATM-dependent phosphorylation of Mdm2 on serine 395: role in p53 activation by DNA damage.	Genes Dev May 1, 2001
Kishi S, Zhou XZ, Ziv Y, Khoo C, Hill DE, Shiloh Y, Lu KP	Telomeric protein Pin2/TRF1 as an important ATM target in response to double strand DNA breaks.	J Biol Chem Aug. 3, 2001
Lee JH, Paull TT	ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex.	Science April 22, 2005

Last modification of this entry: Oct. 6, 2010.

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