ATM
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ATM serine/threonine kinase | MIM:607585 | Ensembl:ENSG00000149311 | HGNC:HGNC:795 | PA61 | 11q22.3 |
GO terms in ATM
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0000723 | telomere maintenance |
| BP | IEA | GO:0000724 | double-strand break repair via homologous recombination |
| BP | TAS | GO:0000729 | DNA double-strand break processing |
| BP | IEA | GO:0001541 | ovarian follicle development |
| BP | IEA | GO:0001666 | response to hypoxia |
| BP | IEA | GO:0001756 | somitogenesis |
| BP | ISS | GO:0002331 | pre-B cell allelic exclusion |
| BP | IEA | GO:0002377 | immunoglobulin production |
| BP | TAS | GO:0006260 | DNA replication |
| BP | IBA | GO:0006281 | DNA repair |
| BP | TAS | GO:0006303 | double-strand break repair via nonhomologous end joining |
| BP | IDA | GO:0006468 | protein phosphorylation |
| BP | IMP | GO:0006468 | protein phosphorylation |
| BP | IDA | GO:0006974 | cellular response to DNA damage stimulus |
| BP | IMP | GO:0006974 | cellular response to DNA damage stimulus |
| BP | IDA | GO:0006975 | DNA damage induced protein phosphorylation |
| BP | IMP | GO:0006975 | DNA damage induced protein phosphorylation |
| BP | TAS | GO:0006977 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest |
| BP | IMP | GO:0007050 | cell cycle arrest |
| BP | IMP | GO:0007094 | mitotic spindle assembly checkpoint |
| BP | TAS | GO:0007131 | reciprocal meiotic recombination |
| BP | IEA | GO:0007140 | male meiotic nuclear division |
| BP | IEA | GO:0007143 | female meiotic nuclear division |
| BP | TAS | GO:0007165 | signal transduction |
| BP | IEA | GO:0007420 | brain development |
| BP | IEA | GO:0007507 | heart development |
| BP | IEA | GO:0008340 | determination of adult lifespan |
| BP | IEA | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage |
| BP | IEA | GO:0009791 | post-embryonic development |
| BP | IDA | GO:0010212 | response to ionizing radiation |
| BP | IMP | GO:0010506 | regulation of autophagy |
| BP | IEA | GO:0016572 | histone phosphorylation |
| BP | IDA | GO:0018105 | peptidyl-serine phosphorylation |
| BP | IMP | GO:0030889 | negative regulation of B cell proliferation |
| BP | IGI | GO:0032210 | regulation of telomere maintenance via telomerase |
| BP | ISS | GO:0032212 | positive regulation of telomere maintenance via telomerase |
| BP | IEA | GO:0033129 | positive regulation of histone phosphorylation |
| BP | IEA | GO:0033151 | V(D)J recombination |
| BP | IEA | GO:0035264 | multicellular organism growth |
| BP | IEA | GO:0036092 | phosphatidylinositol-3-phosphate biosynthetic process |
| BP | IMP | GO:0036289 | peptidyl-serine autophosphorylation |
| BP | IEA | GO:0042159 | lipoprotein catabolic process |
| BP | TAS | GO:0042981 | regulation of apoptotic process |
| BP | IMP | GO:0043065 | positive regulation of apoptotic process |
| BP | IMP | GO:0043517 | positive regulation of DNA damage response, signal transduction by p53 class mediator |
| BP | IEA | GO:0043525 | positive regulation of neuron apoptotic process |
| BP | IEA | GO:0045141 | meiotic telomere clustering |
| BP | IDA | GO:0046777 | protein autophosphorylation |
| BP | IMP | GO:0046777 | protein autophosphorylation |
| BP | IEA | GO:0048538 | thymus development |
| BP | IEA | GO:0048599 | oocyte development |
| BP | IEA | GO:0051402 | neuron apoptotic process |
| BP | IMP | GO:0051972 | regulation of telomerase activity |
| BP | IDA | GO:0071044 | histone mRNA catabolic process |
| BP | IDA | GO:0071480 | cellular response to gamma radiation |
| BP | IDA | GO:0071481 | cellular response to X-ray |
| BP | IDA | GO:0071500 | cellular response to nitrosative stress |
| BP | IMP | GO:0072434 | signal transduction involved in mitotic G2 DNA damage checkpoint |
| BP | IMP | GO:0090399 | replicative senescence |
| BP | IMP | GO:0097694 | establishment of RNA localization to telomere |
| BP | IC | GO:0097695 | establishment of protein-containing complex localization to telomere |
| BP | TAS | GO:1900034 | regulation of cellular response to heat |
| BP | TAS | GO:1901796 | regulation of signal transduction by p53 class mediator |
| BP | IEA | GO:1903626 | positive regulation of DNA catabolic process |
| BP | IEA | GO:1903978 | regulation of microglial cell activation |
| BP | IMP | GO:1904262 | negative regulation of TORC1 signaling |
| BP | IMP | GO:1904354 | negative regulation of telomere capping |
| BP | IMP | GO:1904358 | positive regulation of telomere maintenance via telomere lengthening |
| BP | IMP | GO:1904884 | positive regulation of telomerase catalytic core complex assembly |
| BP | IEA | GO:1905843 | regulation of cellular response to gamma radiation |
| CC | IDA | GO:0000781 | chromosome, telomeric region |
| CC | IC | GO:0000784 | nuclear chromosome, telomeric region |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IEA | GO:0005819 | spindle |
| CC | IEA | GO:0031410 | cytoplasmic vesicle |
| CC | IDA | GO:1990391 | DNA repair complex |
| MF | IEA | GO:0003677 | DNA binding |
| MF | IDA | GO:0004674 | protein serine/threonine kinase activity |
| MF | TAS | GO:0004674 | protein serine/threonine kinase activity |
| MF | IDA | GO:0004677 | DNA-dependent protein kinase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IBA | GO:0016301 | kinase activity |
| MF | IMP | GO:0016303 | 1-phosphatidylinositol-3-kinase activity |
| MF | IDA | GO:0044877 | protein-containing complex binding |
| MF | IDA | GO:0046983 | protein dimerization activity |
| MF | IDA | GO:0047485 | protein N-terminus binding |
Gene expression in normal tissue: ATM
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ATM
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1474165 | Reproduction |
| reactome | R-HSA-1500620 | Meiosis |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-2262752 | Cellular responses to stress |
| reactome | R-HSA-2559583 | Cellular Senescence |
| reactome | R-HSA-2559586 | DNA Damage/Telomere Stress Induced Senescence |
| reactome | R-HSA-3371453 | Regulation of HSF1-mediated heat shock response |
| reactome | R-HSA-3371556 | Cellular response to heat stress |
| reactome | R-HSA-349425 | Autodegradation of the E3 ubiquitin ligase COP1 |
| reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
| reactome | R-HSA-5633007 | Regulation of TP53 Activity |
| reactome | R-HSA-5633008 | TP53 Regulates Transcription of Cell Death Genes |
| reactome | R-HSA-5685938 | HDR through Single Strand Annealing (SSA) |
| reactome | R-HSA-5685942 | HDR through Homologous Recombination (HRR) |
| reactome | R-HSA-5693532 | DNA Double-Strand Break Repair |
| reactome | R-HSA-5693537 | Resolution of D-Loop Structures |
| reactome | R-HSA-5693538 | Homology Directed Repair |
| reactome | R-HSA-5693548 | Sensing of DNA Double Strand Breaks |
| reactome | R-HSA-5693554 | Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) |
| reactome | R-HSA-5693565 | Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks |
| reactome | R-HSA-5693567 | HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) |
| reactome | R-HSA-5693568 | Resolution of D-loop Structures through Holliday Junction Intermediates |
| reactome | R-HSA-5693571 | Nonhomologous End-Joining (NHEJ) |
| reactome | R-HSA-5693579 | Homologous DNA Pairing and Strand Exchange |
| reactome | R-HSA-5693606 | DNA Double Strand Break Response |
| reactome | R-HSA-5693607 | Processing of DNA double-strand break ends |
| reactome | R-HSA-5693616 | Presynaptic phase of homologous DNA pairing and strand exchange |
| reactome | R-HSA-6796648 | TP53 Regulates Transcription of DNA Repair Genes |
| reactome | R-HSA-6803204 | TP53 Regulates Transcription of Genes Involved in Cytochrome C Release |
| reactome | R-HSA-6803207 | TP53 Regulates Transcription of Caspase Activators and Caspases |
| reactome | R-HSA-6804756 | Regulation of TP53 Activity through Phosphorylation |
| reactome | R-HSA-6804757 | Regulation of TP53 Degradation |
| reactome | R-HSA-6804760 | Regulation of TP53 Activity through Methylation |
| reactome | R-HSA-6806003 | Regulation of TP53 Expression and Degradation |
| reactome | R-HSA-69473 | G2/M DNA damage checkpoint |
| reactome | R-HSA-69481 | G2/M Checkpoints |
| reactome | R-HSA-69541 | Stabilization of p53 |
| reactome | R-HSA-69563 | p53-Dependent G1 DNA Damage Response |
| reactome | R-HSA-69580 | p53-Dependent G1/S DNA damage checkpoint |
| reactome | R-HSA-69601 | Ubiquitin Mediated Degradation of Phosphorylated Cdc25A |
| reactome | R-HSA-69610 | p53-Independent DNA Damage Response |
| reactome | R-HSA-69613 | p53-Independent G1/S DNA damage checkpoint |
| reactome | R-HSA-69615 | G1/S DNA Damage Checkpoints |
| reactome | R-HSA-69615 | G1/S DNA Damage Checkpoints |
| reactome | R-HSA-69620 | Cell Cycle Checkpoints |
| reactome | R-HSA-69620 | Cell Cycle Checkpoints |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73894 | DNA Repair |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8953897 | Cellular responses to external stimuli |
| reactome | R-HSA-912446 | Meiotic recombination |
| biocarta | arfpathway | tumor suppressor arf inhibits ribosomal biogenesis |
| biocarta | atmpathway | atm signaling pathway |
| biocarta | atrbrcapathway | role of brca1 brca2 and atr in cancer susceptibility |
| biocarta | cdc25pathway | cdc25 and chk1 regulatory pathway in response to dna damage |
| biocarta | chemicalpathway | apoptotic signaling in response to dna damage |
| biocarta | g1pathway | cell cycle: g1/s check point |
| biocarta | g2pathway | cell cycle: g2/m checkpoint |
| biocarta | p53hypoxiapathway | hypoxia and p53 in the cardiovascular system |
| biocarta | plk3pathway | regulation of cell cycle progression by plk3 |
| biocarta | rbpathway | rb tumor suppressor/checkpoint signaling in response to dna damage |
| pid | atm_pathway | ATM pathway |
| pid | bard1pathway | BARD1 signaling events |
| pid | deltanp63pathway | Validated transcriptional targets of deltaNp63 isoforms |
| pid | e2f_pathway | E2F transcription factor network |
| pid | fanconi_pathway | Fanconi anemia pathway |
| pid | nfkappabcanonicalpathway | Canonical NF-kappaB pathway |
| pid | p38_mkk3_6pathway | p38 MAPK signaling pathway |
| pid | p53regulationpathway | p53 pathway |
| pid | telomerasepathway | Regulation of Telomerase |
| kegg | hsa03440 | Homologous recombination - Homo sapiens (human) |
| kegg | hsa04064 | NF-kappa B signaling pathway - Homo sapiens (human) |
| kegg | hsa04068 | FoxO signaling pathway - Homo sapiens (human) |
| kegg | hsa04110 | Cell cycle - Homo sapiens (human) |
| kegg | hsa04115 | p53 signaling pathway - Homo sapiens (human) |
| kegg | hsa04210 | Apoptosis - Homo sapiens (human) |
| kegg | hsa04218 | Cellular senescence - Homo sapiens (human) |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| kegg | hsa05166 | HTLV-I infection - Homo sapiens (human) |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| kegg | hsa05206 | MicroRNAs in cancer - Homo sapiens (human) |
| pharmgkb | PA165948566 | Metformin Pathway, Pharmacodynamic |
| wikipathways | WP1530 | miRNA Regulation of DNA Damage Response |
| wikipathways | WP1545 | miRNAs involved in DNA damage response |
| wikipathways | WP1742 | TP53 Network |
| wikipathways | WP179 | Cell Cycle |
| wikipathways | WP186 | Homologous recombination |
| wikipathways | WP2261 | Signaling Pathways in Glioblastoma |
| wikipathways | WP2516 | ATM Signaling Pathway |
| wikipathways | WP2942 | DDX1 as a regulatory component of the Drosha microprocessor |
| wikipathways | WP34 | Ovarian Infertility Genes |
| wikipathways | WP3651 | Pathways Affected in Adenoid Cystic Carcinoma |
| wikipathways | WP3657 | Hematopoietic Stem Cell Gene Regulation by GABP alpha-beta Complex |
| wikipathways | WP3808 | TP53 Regulates Transcription of DNA Repair Genes |
| wikipathways | WP3878 | ATM Signaling Network in Development and Disease |
| wikipathways | WP3959 | DNA IR-Double Strand Breaks (DSBs) and cellular response via ATM |
| wikipathways | WP3982 | miRNA regulation of p53 pathway in prostate cancer |
| wikipathways | WP4016 | DNA IR-damage and cellular response via ATR |
| wikipathways | WP45 | G1 to S cell cycle control |
| wikipathways | WP707 | DNA Damage Response |
| wikipathways | WP710 | DNA Damage Response (only ATM dependent) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD150 | RITA | 3 |
| iGMDRD532 | Olaparib | 10 |
| iGMDRD79 | Gemcitabine | 1 |
| iGMDRD583 | LDN 193189 | 1 |
| iGMDRD523 | Cyanoquinoline, 11 | 4 |
| iGMDRD330 | BRD4132 | 4 |
| iGMDRD324 | CI-1040 | 1 |
| iGMDRD123 | Isoevodiamine | 5 |
| iGMDRD945 | ML214 | 2 |
| iGMDRD722 | AZD6738 | 2 |
| iGMDRD883 | CIL55A | 1 |
| iGMDRD698 | Neratinib | 1 |
| iGMDRD314 | Tanespimycin | 3 |
| iGMDRD705 | Nakiterpiosin | 3 |
| iGMDRD289 | Parthenolide | 4 |
| iGMDRD213 | SMR000068650 | 3 |
| iGMDRD137 | Indisulam | 6 |
| iGMDRD158 | NSC141540 | 5 |
| iGMDRD5 | Tyrphostin AG 1478 | 2 |
| iGMDRD402 | AKT Inhibitor VIII | 1 |
| iGMDRD871 | BRD6368 | 3 |
| iGMDRD377 | Compound 1b | 1 |
| iGMDRD67 | PENFLURIDOL | 3 |
| iGMDRD286 | Nsc 632839 | 2 |
| iGMDRD892 | DNA-PKc inhibitor | 3 |
| iGMDRD662 | JQ-1 | 2 |
| iGMDRD427 | ABT737 | 3 |
| iGMDRD1 | Nicotin-Amide | 1 |
| iGMDRD549 | Ibrutinib (PCI-32765) | 1 |
| iGMDRD781 | Sirolimus | 9 |
| iGMDRD483 | SCH-529074 | 2 |
| iGMDRD409 | Saracatinib | 1 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD420 | Leucascandrolide A | 7 |
| iGMDRD394 | BX-795 | 2 |
| iGMDRD679 | Bistramide A | 7 |
| iGMDRD466 | Chaetocin | 5 |
| iGMDRD470 | Trametinib | 1 |
| iGMDRD61 | Kinetin riboside | 3 |
| iGMDRD52 | Rotenone | 2 |
| iGMDRD44 | Temozolomide | 4 |
| iGMDRD474 | Avrainvillamide | 3 |
| iGMDRD431 | NU-7441 | 1 |
| iGMDRD23 | Gossypol | 6 |
| iGMDRD399 | Selumetinib | 5 |
| iGMDRD74 | Idarubicin | 3 |
| iGMDRD133 | Lapatinib | 1 |
| iGMDRD188 | Piperlongumine | 5 |
| iGMDRD888 | Compound 44 | 3 |
| iGMDRD506 | Fedratinib | 2 |
| iGMDRD345 | Compound 10b [PMID: 11504634] | 2 |
| iGMDRD160 | Cis-Platin | 3 |
| iGMDRD116 | CD437 | 1 |
| iGMDRD307 | Manumycin A | 3 |
| iGMDRD827 | ATR inhibitor | 3 |
| iGMDRD595 | PLX4032 | 1 |
| iGMDRD132 | (-)-gallocatechin-3-O-gallate | 3 |
| iGMDRD279 | Istradefylline | 1 |
| iGMDRD536 | PLX-4720 | 1 |
| iGMDRD178 | MG-132 | 1 |
| iGMDRD57 | Chloropentafluorobenzene | 2 |
| iGMDRD351 | GW843682X | 6 |
| iGMDRD434 | BMS-536924 | 6 |
| iGMDRD6 | AM-580 | 3 |
| iGMDRD124 | Canertinib | 1 |
| iGMDRD881 | CHK1/2 inhibitor | 1 |
| iGMDRD246 | NPC26 | 2 |
| iGMDRD300 | Tozasertib | 10 |
| iGMDRD505 | Pevonedistat | 1 |
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD80 | Irinotecan | 1 |
| iGMDRD239 | Dasatinib | 1 |
| iGMDRD144 | NSC95397 | 2 |
| iGMDRD971 | PARP inhibitor | 4 |
| iGMDRD494 | Neopeltolide | 5 |
| iGMDRD772 | BRD4770 | 1 |
| iGMDRD1008 | SR-II-138A | 1 |
| iGMDRD401 | Afatinib | 2 |
| iGMDRD280 | CYTOCHALASIN B | 2 |
| iGMDRD253 | Vincaleukoblastine | 1 |
| iGMDRD201 | SKI II | 3 |
| iGMDRD446 | LY 2183240 | 3 |
| iGMDRD608 | Refametinib | 1 |
| iGMDRD193 | Fqi1 | 2 |
| iGMDRD718 | Pyrvinium pamoate | 1 |
| iGMDRD782 | DC-45-A2 | 6 |
| iGMDRD138 | PX 12 | 2 |
| iGMDRD480 | KU0060648 | 1 |
| iGMDRD60 | Quinoclamine | 2 |
| iGMDRD473 | GDC-0879 | 1 |
| iGMDRD398 | Sepantronium | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ATM
CLASSFICATION
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