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ATRataxia telangiectasia and Rad3 related |
Known also as: FRP1; MEC1; SCKL; SCKL1;
| NCBI Gene ID: | 545 |
| NCBI Ensembl Id: | ENSG00000175054 |
| MIM Id: (from NCBI OMIM database) | 601215 |
| Species: | Homo sapiens |
| The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Wang Y, Qin J | MSH2 and ATR form a signaling module and regulate two branches of the damage response to DNA methylation. | Proc Natl Acad Sci U S A Dec. 23, 2003 |
| Dodson GE, Tibbetts RS | DNA replication stress-induced phosphorylation of cyclic AMP response element-binding protein mediated by ATM. | J Biol Chem Feb. 20, 2006 |
| Yoshioka K, Yoshioka Y, Hsieh P | ATR kinase activation mediated by MutSalpha and MutLalpha in response to cytotoxic O6-methylguanine adducts. | Mol Cell May 19, 2006 |
| Ho GP, Margossian S, Taniguchi T, D'Andrea AD | Phosphorylation of FANCD2 on two novel sites is required for mitomycin C resistance. | Mol Cell Biol Sept. 1, 2006 |
Last modification of this entry: Oct. 6, 2010.
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