Serine-protein kinase ATM
ATM is a member of PI3/PI4-kinase family. ATM acts as a sensor for DNA damage and is important for the phosphorylation of H2A.X as part of the DNA damage response (PMID: 11571274). ATM and DNA-PK are both known to mediate the same reaction and hence have a redundant function (PMID: 15059890). A small fraction of the total ATM is always present in the nucleus and is speculated to be bound to the double stranded break site (PMID: 11454856). ATM is heavily implicated in DNA damage response, tumorigenesis, senescence and cell cycle control (PMID: 15829956, PMID: 15149599, PMID: 19996108).
| UniprotKB Accession | Q13315 |
|---|---|
| Alternative Name(s) | Ataxia telangiectasia mutated (A-T mutated) |
| Writer for PTM/s | H2AS139ph |
| EC number | 2.7.11.1 |
| No. of coding genes | Serine-protein kinase ATM is coded by following 1 non-allelic gene/s |
| Gene name | ataxia telangiectasia mutated |
| Gene symbol | ATM |
| Promoter region (-700 TSS +300) | Get sequence |
| Previous Symbol/s | ATA, ATDC, ATC, ATD |
| Aliases | TEL1, TELO1 |
| GeneID | 472 |
| Chromosomal location | 11q22-q23 |
| HGNC | 795 |
| Unigene | Hs.367437 |
| MIM | 607585 |
| RefSeq mRNA | NM_000051.3 |
| RefSeq Protein | NP_000042.3 |
| Disease associations | Cancer: Breast cancer; PMID: 11505391 Genetic disorder: Ataxia telangiectasia (AT); PMID: 9887333 Cancer: Diffuse large B-cell lymphomas (DLBCLs); PMID: 12149228 |
Serine/threonine/tyrosine kinases Cyclin-dependent kinase 17, Cyclin-dependent kinase 3, Cyclin-dependent kinase 5, Death-associated protein kinase 3, DNA-dependent protein kinase catalytic subunit, Glycogen synthase kinase-3 beta, Inhibitor of nuclear factor kappa-B kinase subunit alpha, LIM domain kinase 2, Microtubule-associated serine/threonine-protein kinase-like, Mitogen-activated protein kinase kinase kinase 8, Mitogen-activated protein kinase kinase kinase MLT, Mitotic checkpoint serine/threonine-protein kinase BUB1, Protein kinase C beta type, Protein kinase C delta type, Ribosomal protein S6 kinase alpha-4, Ribosomal protein S6 kinase alpha-5, Serine-protein kinase ATM, Serine/threonine-protein kinase 10, Serine/threonine-protein kinase 12, Serine/threonine-protein kinase 4, Serine/threonine-protein kinase ATR, Serine/threonine-protein kinase haspin, Serine/threonine-protein kinase N1, Serine/threonine-protein kinase Nek6, Serine/threonine-protein kinase Nek9, Serine/threonine-protein kinase PAK 2, Serine/threonine-protein kinase tousled-like 1, Tyrosine-protein kinase BAZ1B, Tyrosine-protein kinase JAK2