ATM
Entrez ID: 472
Full name: ATM serine/threonine kinase
External links: HGNC UniprotKB Ensembl RefSeq COSMIC
Family: Atypical: PIKK: ATM
Chromosomal location: 11q22.3
Substructure location: Gatekeeper: A-loop: G-loop: αC-helix:
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ATM
Serine/threonine protein kinase which 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. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of h...
Serine/threonine protein kinase which 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. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2, CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9, UBQLN4 and DCLRE1C (PubMed:9843217, PubMed:9733515, PubMed:10550055, PubMed:10766245, PubMed:10839545, PubMed:10910365, PubMed:10802669, PubMed:10973490, PubMed:11375976, PubMed:12086603, PubMed:15456891, PubMed:19965871, PubMed:30612738). May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends. Phosphorylation of DYRK2 in nucleus in response to genotoxic stress prevents its MDM2-mediated ubiquitination and subsequent proteasome degradation. Phosphorylates ATF2 which stimulates its function in DNA damage response. Phosphorylates ERCC6 which is essential for its chromatin remodeling activity at DNA double-strand breaks (PubMed:29203878).
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GO - Biological processes (BP):
brain development, cell cycle arrest, cellular response to DNA damage stimulus, cellular response to gamma radiation, cellular response to nitrosative stress, cellular response to retinoic acid, cellular response to X-ray, determination of adult lifespan, DNA damage checkpoint, DNA damage induced pr...
brain development, cell cycle arrest, cellular response to DNA damage stimulus, cellular response to gamma radiation, cellular response to nitrosative stress, cellular response to retinoic acid, cellular response to X-ray, determination of adult lifespan, DNA damage checkpoint, 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 replication, double-strand break repair via homologous recombination, double-strand break repair via nonhomologous end joining, establishment of protein-containing complex localization to telomere, establishment of RNA localization to telomere, female meiotic nuclear division, heart development, histone mRNA catabolic process, histone phosphorylation, immunoglobulin production, intrinsic apoptotic signaling pathway in response to DNA damage, lipoprotein catabolic process, male meiotic nuclear division, meiotic telomere clustering, mitotic spindle assembly checkpoint, multicellular organism growth, negative regulation of B cell proliferation, negative regulation of telomere capping, negative regulation of TORC1 signaling, neuron apoptotic process, oocyte development, ovarian follicle development, peptidyl-serine autophosphorylation, peptidyl-serine phosphorylation, positive regulation of apoptotic process, positive regulation of cell adhesion, positive regulation of cell migration, positive regulation of DNA catabolic process, positive regulation of DNA damage response, signal transduction by p53 class mediator, positive regulation of gene expression, positive regulation of histone phosphorylation, positive regulation of neuron apoptotic process, positive regulation of telomerase catalytic core complex assembly, positive regulation of telomere maintenance via telomerase, positive regulation of telomere maintenance via telomere lengthening, positive regulation of transcription by RNA polymerase II, post-embryonic development, pre-B cell allelic exclusion, protein autophosphorylation, protein phosphorylation, reciprocal meiotic recombination, regulation of apoptotic process, regulation of autophagy, regulation of cellular response to gamma radiation, regulation of cellular response to heat, regulation of microglial cell activation, regulation of signal transduction by p53 class mediator, regulation of telomere maintenance via telomerase, replicative senescence, response to hypoxia, response to ionizing radiation, signal transduction, signal transduction involved in mitotic G2 DNA damage checkpoint, somitogenesis, telomere maintenance, thymus development, V(D)J recombination
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GO - Molecular function (MF):
1-phosphatidylinositol-3-kinase activity, ATP binding, DNA binding, DNA-dependent protein kinase activity, identical protein binding, protein-containing complex binding, protein N-terminus binding, protein serine/threonine kinase activity...
1-phosphatidylinositol-3-kinase activity, ATP binding, DNA binding, DNA-dependent protein kinase activity, identical protein binding, protein-containing complex binding, protein N-terminus binding, protein serine/threonine kinase activity
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GO - Cellular component (CC):
spindle, nucleolus, nucleoplasm, nucleus, cell, cytoplasmic vesicle, DNA repair complex, intracellular membrane-bounded organelle...
spindle, nucleolus, nucleoplasm, nucleus, cell, cytoplasmic vesicle, DNA repair complex, intracellular membrane-bounded organelle
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ATM serine/threonine kinase
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*NOTE: the Kaplan plots were collected from OncoLnc