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ATM an atypical kinase of the PIKK family. Regulates cell cycle checkpoints and DNA repair . May function as a tumor suppressor. Activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Involved in the activation of ABL1 and SAPK. Binds DNA ends and is part of the BRCA1- associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBN protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. DNA damage promotes association with RAD17. LOF mutations associated with ataxia telangiectasia, causing progressive loss of motor control (ataxia), dilation of superficial blood vessels (telangiectasia), cancer and immune deficiency. Approximately 30% of cases develop tumors, mostly lymphomas and leukemias, due to defects in DNA damage repair. Somatic mutations seen in leukemias and lymphomas. Note: This description may include information from UniProtKB.
Protein type: ATYPICAL group; DNA repair, damage; EC; Kinase, protein; PIKK family; Protein kinase, Ser/Thr (non-receptor); Protein kinase, atypical; Tumor suppressor
Chromosomal Location of Human Ortholog: 11q22.3
Cellular Component: chromosome, telomeric region; nuclear chromosome, telomeric region; nucleolus; nucleoplasm; nucleus
Molecular Function: 1-phosphatidylinositol-3-kinase activity; DNA-dependent protein kinase activity; protein binding; protein complex binding; protein dimerization activity; protein N-terminus binding; protein serine/threonine kinase activity
Biological Process: cell cycle arrest; DNA damage induced protein phosphorylation; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; DNA double-strand break processing; DNA repair; DNA replication; DNA synthesis during DNA repair; double-strand break repair via nonhomologous end joining; meiotic recombination; mitotic cell cycle spindle assembly checkpoint; negative regulation of B cell proliferation; peptidyl-serine phosphorylation; positive regulation of apoptosis; positive regulation of DNA damage response, signal transduction by p53 class mediator; positive regulation of telomere maintenance via telomerase; pre-B cell allelic exclusion; protein amino acid autophosphorylation; protein amino acid phosphorylation; regulation of apoptosis; regulation of autophagy; regulation of telomerase activity; regulation of telomere maintenance via telomerase; response to DNA damage stimulus; response to ionizing radiation; signal transduction; strand displacement
Disease: Ataxia-telangiectasia; Breast Cancer
Reference #:  Q13315 (UniProtKB)
Alt. Names/Synonyms: A-T mutated; AT mutated; AT1; ATA; Ataxia telangiectasia mutated; ataxia telangiectasia mutated (includes complementation groups A, C and D); ATC; ATD; ATDC; ATE; ATM; DKFZp781A0353; human phosphatidylinositol 3-kinase homolog; MGC74674; Serine-protein kinase ATM; TEL1; TEL1, telomere maintenance 1, homolog; TELO1
Gene Symbols: ATM
Molecular weight: 350,687 Da
Basal Isoelectric point: 6.39  Predict pI for various phosphorylation states
CST Pathways:  Apoptosis Regulation  |  G1/S Checkpoint  |  G2/M DNA Damage Checkpoint  |  Mitochondrial Control of Apoptosis  |  NF-kB Signaling  |  Protein Acetylation
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