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    ATM ATM serine/threonine kinase [ Homo sapiens (human) ]

    Gene ID: 472, updated on 15-Jun-2016
    Official Symbol
    ATMprovided by HGNC
    Official Full Name
    ATM serine/threonine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:795
    See related
    Ensembl:ENSG00000149311 HPRD:06347; MIM:607585; Vega:OTTHUMG00000166480
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1
    Summary
    The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
    Orthologs
    Location:
    11q22-q23
    Exon count:
    69
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (108222484..108369102)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (108093559..108239829)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene cullin 5 Neighboring gene uncharacterized LOC107984383 Neighboring gene acetyl-CoA acetyltransferase 1 Neighboring gene nuclear protein, coactivator of histone transcription Neighboring gene chromosome 11 open reading frame 65 Neighboring gene uncharacterized LOC101928561 Neighboring gene KDEL motif containing 2 Neighboring gene exophilin 5

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes.
    NHGRI GWA Catalog
    Does metformin work for everyone? A genome-wide association study for metformin response.
    NHGRI GWA Catalog
    Genome-wide association study identifies three new melanoma susceptibility loci.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env PML, TopBP1, NBS1 or ATM-induced activation of phosphorylation of Chk2 participates in the DNA damage-elicited pro-apoptotic cascade that leads to the demise of Env-elicited syncytia PubMed
    env Interactions between tumor suppressor protein PML, TopBP1 and ATM exhibit in HIV-1 Env-elicited syncytia PubMed
    env Tumor suppressor protein PML is required for the activating phosphorylation of ATM, p38 MAPK, and p53 in HIV-1 Env-elicited syncytia PubMed
    Rev rev Ataxia-telangiectasia-mutated (ATM) kinase enhances HIV-1 replication by stimulating the action of the HIV-1 Rev viral posttranscriptional regulator PubMed
    Tat tat HIV-1 Tat upregulates ATM expression in Tat-infected Jurkat T cells PubMed
    Vif vif A3G upregulates NKG2D ligands through an ATM pathway and in which HIV-1 Vif counteracts this upregulation by decreasing A3G expression PubMed
    Vpr vpr HIV-1 Vpr activates ATM, a DNA double-strand break kinase that is required for cell response to DNA damage and for genome stability PubMed
    integrase gag-pol DNA double-strand breaks enhance integration of HIV-1 into macrophages in an IN D64A mutant, which has defective integrase catalytic activity. This IN-D64A-independent viral transduction is blocked by an inhibitor of ATM PubMed
    gag-pol ATM is proposed to play a role in the prevention of HIV-1 Integrase mediated cell killing PubMed

    Go to the HIV-1, Human Interaction Database

    • Apoptosis, organism-specific biosystem (from KEGG)
      Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Apoptosis, conserved biosystem (from KEGG)
      Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Autodegradation of the E3 ubiquitin ligase COP1, organism-specific biosystem (from REACTOME)
      Autodegradation of the E3 ubiquitin ligase COP1, organism-specific biosystemCOP1 is one of several E3 ubiquitin ligases responsible for the tight regulation of p53 abundance. Following DNA damage, COP1 dissociates from p53 and is inactivated by autodegradation via a path...
    • BARD1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      BARD1 signaling events, organism-specific biosystem
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    • BRCA1-associated genome surveillance complex (BASC), organism-specific biosystem (from KEGG)
      BRCA1-associated genome surveillance complex (BASC), organism-specific biosystemStructural complex; Genetic information processing; Repair system
    • BRCA1-associated genome surveillance complex (BASC), conserved biosystem (from KEGG)
      BRCA1-associated genome surveillance complex (BASC), conserved biosystemStructural complex; Genetic information processing; Repair system
    • Canonical NF-kappaB pathway, organism-specific biosystem (from Pathway Interaction Database)
      Canonical NF-kappaB pathway, organism-specific biosystem
      Canonical NF-kappaB pathway
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
      Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
    • Cell cycle, organism-specific biosystem (from WikiPathways)
      Cell cycle, organism-specific biosystemThe cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle involves processes crucial to the survival of a c...
    • Cell cycle, organism-specific biosystem (from KEGG)
      Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Cell cycle, conserved biosystem (from KEGG)
      Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Cellular Senescence, organism-specific biosystem (from REACTOME)
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    • Cellular response to heat stress, organism-specific biosystem (from REACTOME)
      Cellular response to heat stress, organism-specific biosystemIn response to exposure to elevated temperature and certain other proteotoxic stimuli (e.g., hypoxia, free radicals) cells activate a number of cytoprotective mechanisms known collectively as "heat s...
    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystem (from REACTOME)
      DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystemReactive oxygen species (ROS), whose concentration increases in senescent cells due to oncogenic RAS-induced mitochondrial dysfunction (Moiseeva et al. 2009) or due to environmental stress, cause DNA...
    • DNA Double Strand Break Response, organism-specific biosystem (from REACTOME)
      DNA Double Strand Break Response, organism-specific biosystemDNA double strand break (DSB) response involves sensing of DNA DSBs by the MRN complex which triggers ATM activation. ATM phosphorylates a number of proteins involved in DNA damage checkpoint signali...
    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • DNA damage response, organism-specific biosystem (from WikiPathways)
      DNA damage response, organism-specific biosystemThis is the first pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and ATR) which are connected to the sources of DNA damage (in blue). The two ...
    • DNA damage response (only ATM dependent), organism-specific biosystem (from WikiPathways)
      DNA damage response (only ATM dependent), organism-specific biosystemThis is the second pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and TP53) which are connected with the first DNA damage response pathway. In...
    • DNA damage-induced cell cycle checkpoints, organism-specific biosystem (from KEGG)
      DNA damage-induced cell cycle checkpoints, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • DNA damage-induced cell cycle checkpoints, conserved biosystem (from KEGG)
      DNA damage-induced cell cycle checkpoints, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • E2F transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      E2F transcription factor network, organism-specific biosystem
      E2F transcription factor network
    • FoxO signaling pathway, organism-specific biosystem (from KEGG)
      FoxO signaling pathway, organism-specific biosystemThe forkhead box O (FOXO) family of transcription factors regulates the expression of genes in cellular physiological events including apoptosis, cell-cycle control, glucose metabolism, oxidative str...
    • G1 to S cell cycle control, organism-specific biosystem (from WikiPathways)
      G1 to S cell cycle control, organism-specific biosystemIn the G1 phase there are two types of DNA damage responses, the p53-dependent and the p53-independent pathways. The p53-dependent responses inhibit CDKs through the up-regulation of genes encoding C...
    • G1/S DNA Damage Checkpoints, organism-specific biosystem (from REACTOME)
      G1/S DNA Damage Checkpoints, organism-specific biosystemIn the G1 phase there are two types of DNA damage responses, the p53-dependent and the p53-independent pathways. The p53-dependent responses inhibit CDKs through the up-regulation of genes encoding ...
    • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
      G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
    • G2/M DNA damage checkpoint, organism-specific biosystem (from REACTOME)
      G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
    • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
    • HDR through Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) through single strand annealing (SSA), similar to HDR through homologous recombination repair (HRR), involves extensive resection of DNA double strand break ends (DSBs)...
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Homologous DNA Pairing and Strand Exchange, organism-specific biosystem (from REACTOME)
      Homologous DNA Pairing and Strand Exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from 3'-ssDNA overhangs created by extensive resection of DNA double strand break (DSB) ends. R...
    • Homologous recombination, organism-specific biosystem (from WikiPathways)
      Homologous recombination, organism-specific biosystemHomologous recombination, also known as general recombination, is a type of genetic recombination in which nucleotide sequences are exchanged between two similar or identical strands of DNA. Source:...
    • Homology Directed Repair, organism-specific biosystem (from REACTOME)
      Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    • Integrated Cancer pathway, organism-specific biosystem (from WikiPathways)
      Integrated Cancer pathway, organism-specific biosystem
      Integrated Cancer pathway
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • Meiosis, organism-specific biosystem (from REACTOME)
      Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
    • Meiotic recombination, organism-specific biosystem (from REACTOME)
      Meiotic recombination, organism-specific biosystemMeiotic recombination exchanges segments of duplex DNA between chromosomal homologs, generating genetic diversity (reviewed in Handel and Schimenti 2010, Inagaki et al. 2010, Cohen et al. 2006). Ther...
    • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
      MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
    • MicroRNAs in cancer, conserved biosystem (from KEGG)
      MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
    • NF-kappa B signaling pathway, organism-specific biosystem (from KEGG)
      NF-kappa B signaling pathway, organism-specific biosystemNuclear factor-kappa B (NF-kappa B) is the generic name of a family of transcription factors that function as dimers and regulate genes involved in immunity, inflammation and cell survival. There are...
    • NF-kappa B signaling pathway, conserved biosystem (from KEGG)
      NF-kappa B signaling pathway, conserved biosystemNuclear factor-kappa B (NF-kappa B) is the generic name of a family of transcription factors that function as dimers and regulate genes involved in immunity, inflammation and cell survival. There are...
    • Nonhomologous End-Joining (NHEJ), organism-specific biosystem (from REACTOME)
      Nonhomologous End-Joining (NHEJ), organism-specific biosystemThe nonhomologous end joining (NHEJ) pathway is initiated in response to the formation of DNA double-strand breaks (DSBs) induced by DNA-damaging agents, such as ionizing radiation. DNA DSBs are reco...
    • Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
      Ovarian Infertility Genes, organism-specific biosystemOvarian bottleneck genes associated with infertility. A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertility ph...
    • Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystem (from REACTOME)
      Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange during homologous recombination repair (HRR) begins with the displacement of RPA from ssDNA (Thompson and Limoli 2003) by the joint...
    • Processing of DNA double-strand break ends, organism-specific biosystem (from REACTOME)
      Processing of DNA double-strand break ends, organism-specific biosystemHomology directed repair (HDR) through homologous recombination (HRR) or single strand annealing (SSA) requires extensive resection of DNA double strand break (DSB) ends (Thompson and Limoli 2003, Ci...
    • Prostate Cancer, organism-specific biosystem (from WikiPathways)
      Prostate Cancer, organism-specific biosystem
      Prostate Cancer
    • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystem (from REACTOME)
      Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystemActivated ATM phosphorylates a number of proteins involved in the DNA damage checkpoint and DNA repair (Thompson and Schild 2002, Ciccia and Elledge 2010), thereby triggering and coordinating accumul...
    • Regulation of HSF1-mediated heat shock response, organism-specific biosystem (from REACTOME)
      Regulation of HSF1-mediated heat shock response, organism-specific biosystemThe ability of HSF1 to respond to cellular stresses is under negative regulation by chaperones, modulation of nucleocytoplasmic shuttling, post-translational modifications and transition from monomer...
    • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
    • Regulation of TP53 Activity through Methylation, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity through Methylation, organism-specific biosystemTP53 (p53) undergoes methylation on several lysine and arginine residues, which modulates its transcriptional activity.PRMT5, recruited to TP53 as part of the ATM-activated complex that includes TTC5...
    • Regulation of TP53 Activity through Phosphorylation, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity through Phosphorylation, organism-specific biosystemPhosphorylation of TP53 (p53) at the N-terminal serine residues S15 and S20 plays a critical role in protein stabilization as phosphorylation at these sites interferes with binding of the ubiquitin l...
    • Regulation of TP53 Degradation, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Degradation, organism-specific biosystemIn unstressed cells, TP53 (p53) has a short half-life as it undergoes rapid ubiquitination and proteasome-mediated degradation. The E3 ubiquitin ligase MDM2, which is a transcriptional target of TP53...
    • Regulation of TP53 Expression and Degradation, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Expression and Degradation, organism-specific biosystemTP53 (p53) tumor suppressor protein is a transcription factor that functions as a homotetramer (Jeffrey et al. 1995). The protein levels of TP53 are low in unstressed cells due to MDM2-mediated ubiqu...
    • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of Telomerase, organism-specific biosystem
      Regulation of Telomerase
    • Resolution of D-Loop Structures, organism-specific biosystem (from REACTOME)
      Resolution of D-Loop Structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates or through synthesis-dependent strand-annealing (SDSA) (Prado and Aguilera 2003...
    • Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystem (from REACTOME)
      Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystemD-loops generated after strand invasion and DNA repair synthesis during homologous recombination repair (HRR) can be resolved through Holliday junction intermediates.A D-loop can be cleaved by the co...
    • Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystem (from REACTOME)
      Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystemIn the synthesis-dependent strand-annealing (SDSA) model of D-loop resolution, D-loop strands extended by DNA repair synthesis dissociate from their sister chromatid complements and reanneal with the...
    • Sensing of DNA Double Strand Breaks, organism-specific biosystem (from REACTOME)
      Sensing of DNA Double Strand Breaks, organism-specific biosystemDetection of DNA double-strand breaks (DSBs) involves sensor proteins of the MRN complex, composed of MRE11A, RAD50 and NBN (NBS1). Binding of the MRN complex to DNA DSBs activates ATM-dependent DNA ...
    • Signaling Pathways in Glioblastoma, organism-specific biosystem (from WikiPathways)
      Signaling Pathways in Glioblastoma, organism-specific biosystemThe most frequently altered genes in glioblastoma. This pathway originally accompanied the 2008 Nature publication on the comprehensive genomic characterization of human glioblastoma genes and core p...
    • Stabilization of p53, organism-specific biosystem (from REACTOME)
      Stabilization of p53, organism-specific biosystemLater studies pin-pointed that a single serine (Ser-15) was phosphorylated by ATM and phosphorylation of Ser-15 was rapidly-induced in IR-treated cells and this response was ATM-dependent (Canman et ...
    • TP53 Regulates Transcription of Caspase Activators and Caspases, organism-specific biosystem (from REACTOME)
      TP53 Regulates Transcription of Caspase Activators and Caspases, organism-specific biosystemTP53 (p53) transcriptionally regulates cytosolic caspase activators, such as APAF1, PIDD1, and NLRC4, and caspases themselves, such as CASP1, CASP6 and CASP10. These caspases and their activators are...
    • TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystem (from REACTOME)
      TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystemThe tumor suppressor TP53 (p53) exerts its tumor suppressive role in part by regulating transcription of a number of genes involved in cell death, mainly apoptotic cell death. The majority of apoptot...
    • TP53 Regulates Transcription of DNA Repair Genes, organism-specific biosystem (from REACTOME)
      TP53 Regulates Transcription of DNA Repair Genes, organism-specific biosystemSeveral DNA repair genes contain p53 response elements and their transcription is positively regulated by TP53 (p53). TP53-mediated regulation probably ensures increased protein level of DNA repair g...
    • TP53 Regulates Transcription of Genes Involved in Cytochrome C Release, organism-specific biosystem (from REACTOME)
      TP53 Regulates Transcription of Genes Involved in Cytochrome C Release, organism-specific biosystemApoptotic transcriptional targets of TP53 include genes that regulate the permeability of the mitochondrial membrane and/or cytochrome C release, such as BAX, BID, PMAIP1 (NOXA), BBC3 (PUMA) and prob...
    • TP53 network, organism-specific biosystem (from WikiPathways)
      TP53 network, organism-specific biosystemP53 is not a lonely genome guardian, it operates with the assistance of p73 and p63 within a complex network including distinct but complementary pathways. This protein family presents a high le...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
      Transcriptional misregulation in cancer, organism-specific biosystem
      Transcriptional misregulation in cancer
    • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
      Transcriptional misregulation in cancer, conserved biosystem
      Transcriptional misregulation in cancer
    • Ubiquitin Mediated Degradation of Phosphorylated Cdc25A, organism-specific biosystem (from REACTOME)
      Ubiquitin Mediated Degradation of Phosphorylated Cdc25A, organism-specific biosystemcdc25A protein is degraded by the ubiquitin-proteasome machinery in both terminally differentiating and cycling cells (Bernardi et al. 2000).
    • miRNAs involved in DDR, organism-specific biosystem (from WikiPathways)
      miRNAs involved in DDR, organism-specific biosystemMicroRNA clusters involved in de DNA damage response. Genes they regulated and genes that regulate them. All genes presented in this pathway can also be found in the pathway "DNA damage response(Homo...
    • p38 MAPK signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      p38 MAPK signaling pathway, organism-specific biosystem
      p38 MAPK signaling pathway
    • p53 pathway, organism-specific biosystem (from Pathway Interaction Database)
      p53 pathway, organism-specific biosystem
      p53 pathway
    • p53 signaling pathway, organism-specific biosystem (from KEGG)
      p53 signaling pathway, organism-specific biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
    • p53 signaling pathway, conserved biosystem (from KEGG)
      p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
    • p53-Dependent G1 DNA Damage Response, organism-specific biosystem (from REACTOME)
      p53-Dependent G1 DNA Damage Response, organism-specific biosystemMost of the damage-induced modifications of p53 are dependent on the ATM kinase. The first link between ATM and p53 was predicted based on the earlier studies that showed that AT cells exhibit a redu...
    • p53-Dependent G1/S DNA damage checkpoint, organism-specific biosystem (from REACTOME)
      p53-Dependent G1/S DNA damage checkpoint, organism-specific biosystemThe arrest at G1/S checkpoint is mediated by the action of a widely known tumor suppressor protein, p53. Loss of p53 functions, as a result of mutations in cancer prevent the G1/S checkpoint (Kuerbi...
    • p53-Independent DNA Damage Response, organism-specific biosystem (from REACTOME)
      p53-Independent DNA Damage Response, organism-specific biosystemIn response to DNA damage due to exposure to ultraviolet light or to ionizing radiation, Cdc25A is phosphorylated by Chk1 or Chk2. The phosphorylation of Cdc25A at ser-123, in response to DNA damage...
    • p53-Independent G1/S DNA damage checkpoint, organism-specific biosystem (from REACTOME)
      p53-Independent G1/S DNA damage checkpoint, organism-specific biosystemThe G1 arrest induced by DNA damage has been ascribed to the transcription factor and tumor suppressor protein p53. To be effective within minutes after DNA damage, induction of the G1 block should ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC74674, DKFZp781A0353

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    1-phosphatidylinositol-3-kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA-dependent protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein N-terminus binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein dimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    DNA damage induced protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest TAS
    Traceable Author Statement
    more info
     
    DNA double-strand break processing TAS
    Traceable Author Statement
    more info
     
    DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    DNA replication TAS
    Traceable Author Statement
    more info
     
    DNA synthesis involved in DNA repair TAS
    Traceable Author Statement
    more info
     
    V(D)J recombination IEA
    Inferred from Electronic Annotation
    more info
     
    brain development IEA
    Inferred from Electronic Annotation
    more info
     
    cell cycle arrest IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to gamma radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to nitrosative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    determination of adult lifespan IEA
    Inferred from Electronic Annotation
    more info
     
    double-strand break repair via homologous recombination IEA
    Inferred from Electronic Annotation
    more info
     
    double-strand break repair via nonhomologous end joining TAS
    Traceable Author Statement
    more info
     
    establishment of RNA localization to telomere IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    establishment of macromolecular complex localization to telomere IC
    Inferred by Curator
    more info
    PubMed 
    heart development IEA
    Inferred from Electronic Annotation
    more info
     
    histone mRNA catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    intrinsic apoptotic signaling pathway in response to DNA damage IEA
    Inferred from Electronic Annotation
    more info
     
    lipoprotein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    meiotic telomere clustering IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic spindle assembly checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of B cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of TORC1 signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of telomere capping IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    oocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-serine autophosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-3-phosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of DNA damage response, signal transduction by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of histone phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of telomerase catalytic core complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of telomere maintenance via telomerase ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of telomere maintenance via telomere lengthening IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pre-B cell allelic exclusion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    reciprocal meiotic recombination TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of apoptotic process TAS
    Traceable Author Statement
    more info
     
    regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cellular response to heat TAS
    Traceable Author Statement
    more info
     
    regulation of signal transduction by p53 class mediator TAS
    Traceable Author Statement
    more info
     
    NOT regulation of telomerase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    replicative senescence IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    signal transduction involved in mitotic G2 DNA damage checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    strand displacement TAS
    Traceable Author Statement
    more info
     
    telomere maintenance via telomerase IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    DNA repair complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic, membrane-bounded vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with nuclear chromosome, telomeric region IC
    Inferred by Curator
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    spindle IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    serine-protein kinase ATM
    Names
    A-T mutated
    AT mutated
    TEL1, telomere maintenance 1, homolog
    ataxia telangiectasia mutated
    NP_000042.3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009830.1 RefSeqGene

      Range
      5001..151268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_135

    mRNA and Protein(s)

    1. NM_000051.3NP_000042.3  serine-protein kinase ATM

      See identical proteins and their annotated locations for NP_000042.3

      Status: REVIEWED

      Source sequence(s)
      AP001925, AP005718, U26455, U33841, X91196
      Consensus CDS
      CCDS31669.1
      UniProtKB/Swiss-Prot
      Q13315
      UniProtKB/TrEMBL
      A0A024R3C7
      Related
      ENSP00000278616, ENST00000278616
      Conserved Domains (4) summary
      pfam02259
      Location:20972489
      FAT; FAT domain
      pfam02260
      Location:30263056
      FATC; FATC domain
      pfam11640
      Location:7165
      TAN; Telomere-length maintenance and DNA damage repair
      cd05171
      Location:26832962
      PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      108222484..108369102
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542843.2XP_011541145.1  

      Conserved Domains (3) summary
      pfam02259
      Location:20972489
      FAT; FAT domain
      pfam11640
      Location:7165
      TAN; Telomere-length maintenance and DNA damage repair
      cd05171
      Location:26832890
      PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    2. XM_017017791.1XP_016873280.1  

    3. XM_017017792.1XP_016873281.1  

    4. XM_011542842.2XP_011541144.1  

      Conserved Domains (4) summary
      pfam02259
      Location:20422434
      FAT; FAT domain
      pfam02260
      Location:29713001
      FATC; FATC domain
      pfam11640
      Location:7112
      TAN; Telomere-length maintenance and DNA damage repair
      cd05171
      Location:26282907
      PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    5. XM_005271561.4XP_005271618.2  

      See identical proteins and their annotated locations for XP_005271618.2

      UniProtKB/Swiss-Prot
      Q13315
      UniProtKB/TrEMBL
      A0A024R3C7
      Related
      ENSP00000388058, OTTHUMP00000232981, ENST00000452508, OTTHUMT00000389938
      Conserved Domains (4) summary
      pfam02259
      Location:20972489
      FAT; FAT domain
      pfam02260
      Location:30263056
      FATC; FATC domain
      pfam11640
      Location:7165
      TAN; Telomere-length maintenance and DNA damage repair
      cd05171
      Location:26832962
      PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    6. XM_011542844.2XP_011541146.1  

      Conserved Domains (3) summary
      pfam02259
      Location:17492141
      FAT; FAT domain
      pfam02260
      Location:26782708
      FATC; FATC domain
      cd05171
      Location:23352614
      PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    7. XM_005271562.4XP_005271619.2  

      See identical proteins and their annotated locations for XP_005271619.2

      UniProtKB/Swiss-Prot
      Q13315
      UniProtKB/TrEMBL
      A0A024R3C7
      Conserved Domains (4) summary
      pfam02259
      Location:20972489
      FAT; FAT domain
      pfam02260
      Location:30263056
      FATC; FATC domain
      pfam11640
      Location:7165
      TAN; Telomere-length maintenance and DNA damage repair
      cd05171
      Location:26832962
      PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    8. XM_017017790.1XP_016873279.1  

    9. XM_017017789.1XP_016873278.1  

    10. XM_011542840.2XP_011541142.1  

      See identical proteins and their annotated locations for XP_011541142.1

      UniProtKB/Swiss-Prot
      Q13315
      UniProtKB/TrEMBL
      A0A024R3C7
      Conserved Domains (4) summary
      pfam02259
      Location:20972489
      FAT; FAT domain
      pfam02260
      Location:30263056
      FATC; FATC domain
      pfam11640
      Location:7165
      TAN; Telomere-length maintenance and DNA damage repair
      cd05171
      Location:26832962
      PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    11. XM_006718843.3XP_006718906.1  

      See identical proteins and their annotated locations for XP_006718906.1

      UniProtKB/Swiss-Prot
      Q13315
      UniProtKB/TrEMBL
      A0A024R3C7
      Conserved Domains (4) summary
      pfam02259
      Location:20972489
      FAT; FAT domain
      pfam02260
      Location:30263056
      FATC; FATC domain
      pfam11640
      Location:7165
      TAN; Telomere-length maintenance and DNA damage repair
      cd05171
      Location:26832962
      PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    12. XM_011542845.1XP_011541147.1  

      Conserved Domains (3) summary
      pfam02259
      Location:16612053
      FAT; FAT domain
      pfam02260
      Location:25902620
      FATC; FATC domain
      cd05171
      Location:22472526
      PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
    13. XM_006718845.1XP_006718908.1  

      See identical proteins and their annotated locations for XP_006718908.1

      UniProtKB/Swiss-Prot
      Q13315
      Conserved Domains (3) summary
      pfam02259
      Location:7491141
      FAT; FAT domain
      pfam02260
      Location:16781708
      FATC; FATC domain
      cd05171
      Location:13351614
      PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      107976660..108122959
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_138292.3: Suppressed sequence

      Description
      NM_138292.3: This RefSeq was permanently suppressed because the CDS was partial, and the transcript retained intronic sequence at its 5' end.
    2. NM_138293.1: Suppressed sequence

      Description
      NM_138293.1: This RefSeq was permanently suppressed because it represents a partial, incompletely processed transcript.