Summary of ATM
The ATM gene encodes a protein that helps control the rate at which cells grow and divide. It also plays a role in the development and activity of the nervous system and the immune system. It also helps recognize damaged or broken DNA strands and helps activate enzymes that fix the broken strands (R).
Mutations can increase the risk of developing cancer (R).
The Function of ATM
Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2, CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C. May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends. Phosphorylation of DYRK2 in nucleus in response to genotoxic stress prevents its MDM2-mediated ubiquitination and subsequent proteasome degradation. Phosphorylates ATF2 which stimulates its function in DNA damage response.
Protein names
Recommended name:
Serine-protein kinase ATMAlternative name(s):
Ataxia telangiectasia mutatedA-T mutated
- RS1800054 (ATM) ??
- RS1800056 (ATM) ??
- RS1800057 (ATM) ??
- RS1800058 (ATM) ??
- RS1801516 (ATM) ??
- RS1801673 (ATM) ??
- RS189037 (ATM) ??
- RS227060 (ATM) ??
- RS227062 (ATM) ??
- RS227092 (ATM) ??
- RS228589 (ATM) ??
- RS228591 (ATM) ??
- RS28904921 (ATM) ??
- RS3092856 (ATM) ??
- RS3092857 (ATM) ??
- RS3218695 (ATM) ??
- RS3218707 (ATM) ??
- RS4585 (ATM) ??
- RS4986761 (ATM) ??
- RS600931 (ATM) ??
- RS624366 (ATM) ??
- RS659243 (ATM) ??
- RS664143 (ATM) ??
- RS664677 (ATM) ??
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Top Gene-Substance Interactions
ATM Interacts with These Diseases
| Disease | Score |
Substances That Increase ATM
| Substances | Interaction | Organism | Category |
Substances That Decrease ATM
| Substances | Interaction | Organism | Category |
Advanced Summary
ataxia-telangiectasia Researchers have identified several hundred mutations in the ATM gene that cause ataxia-telangiectasia. People with this disorder have mutations in both copies of the ATM gene in each cell. Most of these mutations disrupt protein production, resulting in an abnormally small, nonfunctional version of the ATM protein. Cells without any functional ATM protein are hypersensitive to radiation and do not respond normally to DNA damage. Instead of activating DNA repair, the defective ATM protein allows mutations to accumulate in other genes, which may cause cells to grow and divide in an uncontrolled way. This kind of unregulated cell growth can lead to the formation of cancerous tumors. In addition, ATM mutations can allow cells to die inappropriately, particularly affecting cells in a part of the brain involved in coordinating movements (the cerebellum). This loss of brain cells causes the movement problems characteristic of ataxia-telangiectasia. breast cancer Genetics Home Reference provides information about breast cancer . other cancers Research suggests that people who carry one mutated copy of the ATM gene in each cell may have an increased risk of developing several other types of cancer. In particular, some studies have shown that cancers of the breast, stomach, bladder, pancreas, lung, and ovaries occur more frequently in ATM mutation carriers than in people who do not carry these mutations. The results of similar studies, however, have been conflicting. Additional research is needed to clarify which other types of cancer, if any, are associated with ATM mutations.
The ATM gene provides instructions for making a protein that is located primarily in the nucleus of cells, where it helps control the rate at which cells grow and divide. This protein also plays an important role in the normal development and activity of several body systems, including the nervous system and the immune system. Additionally, the ATM protein assists cells in recognizing damaged or broken DNA strands. DNA can be damaged by agents such as toxic chemicals or radiation. Breaks in DNA strands also occur naturally when chromosomes exchange genetic material during cell division. The ATM protein coordinates DNA repair by activating enzymes that fix the broken strands. Efficient repair of damaged DNA strands helps maintain the stability of the cell's genetic information. Because of its central role in cell division and DNA repair, the ATM protein is of great interest in cancer research.
Conditions with Increased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
|---|
Conditions with Decreased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Found in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain, heart, spleen, thymus, testis, ovary, small intestine, colon and leukocytes.
Gene Pathways:
Induction:
By ionizing radiation.
Enzyme Regulation:
Inhibited by wortmannin.
Molecular Function:
- Dna Binding
- Protein Serine/Threonine Kinase Activity
- Dna-Dependent Protein Kinase Activity
- Atp Binding
- 1-Phosphatidylinositol-3-Kinase Activity
- Protein Complex Binding
- Protein Dimerization Activity
- Protein N-Terminus Binding
Biological Processes:
- Double-Strand Break Repair Via Homologous Recombination
- Dna Double-Strand Break Processing
- Dna Synthesis Involved In Dna Repair
- Strand Displacement
- Response To Hypoxia
- Somitogenesis
- Pre-B Cell Allelic Exclusion
- Dna Replication
- Dna Repair
- Double-Strand Break Repair Via Nonhomologous End Joining
- Protein Phosphorylation
- Cellular Response To Dna Damage Stimulus
- Dna Damage Induced Protein Phosphorylation
- Dna Damage Response, Signal Transduction By P53 Class Mediator Resulting In Cell Cycle Arrest
- Telomere Maintenance Via Telomerase
- Cell Cycle Arrest
- Mitotic Spindle Assembly Checkpoint
- Reciprocal Meiotic Recombination
- Signal Transduction
- Brain Development
- Heart Development
- Determination Of Adult Lifespan
- Intrinsic Apoptotic Signaling Pathway In Response To Dna Damage
- Response To Ionizing Radiation
- Regulation Of Autophagy
- Histone Phosphorylation
- Peptidyl-Serine Phosphorylation
- Negative Regulation Of B Cell Proliferation
- Positive Regulation Of Telomere Maintenance Via Telomerase
- Positive Regulation Of Histone Phosphorylation
- V(D)J Recombination
- Peptidyl-Serine Autophosphorylation
- Lipoprotein Catabolic Process
- Regulation Of Apoptotic Process
- Positive Regulation Of Apoptotic Process
- Positive Regulation Of Dna Damage Response, Signal Transduction By P53 Class Mediator
- Positive Regulation Of Neuron Apoptotic Process
- Meiotic Telomere Clustering
- Protein Autophosphorylation
- Oocyte Development
- Neuron Apoptotic Process
- Histone Mrna Catabolic Process
- Cellular Response To Gamma Radiation
- Cellular Response To X-Ray
- Cellular Response To Nitrosative Stress
- Signal Transduction Involved In Mitotic G2 Dna Damage Checkpoint
- Replicative Senescence
- Establishment Of Rna Localization To Telomere
- Establishment Of Macromolecular Complex Localization To Telomere
- Regulation Of Cellular Response To Heat
- Regulation Of Signal Transduction By P53 Class Mediator
- Negative Regulation Of Torc1 Signaling
- Negative Regulation Of Telomere Capping
- Positive Regulation Of Telomere Maintenance Via Telomere Lengthening
- Positive Regulation Of Telomerase Catalytic Core Complex Assembly