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Overview |
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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.
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| Protein type: Protein kinase, Ser/Thr (non-receptor); EC 2.7.11.1; Protein kinase, ATYPICAL; Kinase, protein; ATYPICAL group; PIKK family |
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Cellular Component: nucleoplasm; chromosome, telomeric region; cytoplasmic membrane-bound vesicle; spindle
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Molecular Function: protein dimerization activity; protein serine/threonine kinase activity; protein binding; DNA binding; 1-phosphatidylinositol-3-kinase activity; protein complex binding; protein N-terminus binding; DNA-dependent protein kinase activity; histone serine kinase activity; ATP binding
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Biological Process: lipoprotein catabolic process; DNA damage induced protein phosphorylation; positive regulation of apoptosis; protein amino acid autophosphorylation; heart development; pre-B cell allelic exclusion; negative regulation of B cell proliferation; signal transduction; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; double-strand break repair; positive regulation of neuron apoptosis; mitotic cell cycle spindle assembly checkpoint; cell cycle arrest; telomere maintenance; somitogenesis; female gamete generation; DNA repair; double-strand break repair via homologous recombination; neuron apoptosis; peptidyl-serine phosphorylation; DNA damage response, signal transduction resulting in induction of apoptosis; meiotic recombination; response to hypoxia; positive regulation of DNA damage response, signal transduction by p53 class mediator; brain development; response to ionizing radiation; G2/M transition DNA damage checkpoint; response to DNA damage stimulus; cell cycle checkpoint; negative regulation of apoptosis
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Reference #:
NP_000042 (RefSeq)
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| 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 |
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Molecular weight: 350,687 Da
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Basal Isoelectric point: 6.39
Predict pI for various phosphorylation states
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CST Pathways:
Apoptosis
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Cell Cycle: G1/S Checkpoint
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Cell Cycle: G2/M DNA Damage Checkpoint
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Mitochondrial Control of Apoptosis
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NF-kB Signaling
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Protein Acetylation
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Protein-Specific Antibodies or siRNAs from Cell Signaling Technology®
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Select Structure to View Below |
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ATM |
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Substrate Sequence Logo |
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