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

Gene ID: 472, updated on 22-May-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
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (108222500..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 acetyl-CoA acetyltransferase 1 Neighboring gene nuclear protein, coactivator of histone transcription Neighboring gene chromosome 11 open reading frame 65 Neighboring gene uncharacterized LOC105369479 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
    BARD1 signaling events
  • 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)
    Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
  • 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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    108222500..108369102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542843.1XP_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_011542846.1XP_011541148.1  

    Conserved Domains (1) summary
    pfam11640
    Location:7165
    TAN; Telomere-length maintenance and DNA damage repair
  3. XM_011542841.1XP_011541143.1  

    See identical proteins and their annotated locations for XP_011541143.1

    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
  4. XM_005271561.3XP_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
  5. XM_011542842.1XP_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
  6. XM_005271562.3XP_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
  7. XM_011542840.1XP_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
  8. XM_006718843.2XP_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
  9. XM_011542844.1XP_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
  10. 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
  11. 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
  12. XM_011542847.1XP_011541149.1  

    Conserved Domains (3) summary
    pfam02259
    Location:454846
    FAT; FAT domain
    pfam02260
    Location:13831413
    FATC; FATC domain
    cd05171
    Location:10401319
    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.