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  3. ATM

ATM (ATM serine/threonine kinase)

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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). 

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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 ATM

Alternative name(s):

Ataxia telangiectasia mutated
A-T mutated

ATM SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS1800054 (ATM) ??
  2. RS1800056 (ATM) ??
  3. RS1800057 (ATM) ??
  4. RS1800058 (ATM) ??
  5. RS1801516 (ATM) ??
  6. RS1801673 (ATM) ??
  7. RS189037 (ATM) ??
  8. RS227060 (ATM) ??
  9. RS227062 (ATM) ??
  10. RS227092 (ATM) ??
  11. RS228589 (ATM) ??
  12. RS228591 (ATM) ??
  13. RS28904921 (ATM) ??
  14. RS3092856 (ATM) ??
  15. RS3092857 (ATM) ??
  16. RS3218695 (ATM) ??
  17. RS3218707 (ATM) ??
  18. RS4585 (ATM) ??
  19. RS4986761 (ATM) ??
  20. RS600931 (ATM) ??
  21. RS624366 (ATM) ??
  22. RS659243 (ATM) ??
  23. RS664143 (ATM) ??
  24. RS664677 (ATM) ??

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

Technical

The following transcription factors affect gene expression:

  • GR
  • p53
  • CREB
  • AP-1
  • c-Jun
  • deltaCREB
  • Sp1
  • E2F-1

Tissue specificity:

Found in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain, heart, spleen, thymus, testis, ovary, small intestine, colon and leukocytes.

Gene Pathways:

  • Cellular responses to stress
  • Mus musculus biological processes
  • Apoptosis
  • DNA Repair
  • p53 signaling pathway

Induction:

By ionizing radiation.

Enzyme Regulation:

Inhibited by wortmannin.

Molecular Function:

  • 1-Phosphatidylinositol-3-Kinase Activity
  • Atp Binding
  • Dna Binding
  • Dna-Dependent Protein Kinase Activity
  • Protein Complex Binding
  • Protein Dimerization Activity
  • Protein N-Terminus Binding
  • Protein Serine/Threonine Kinase Activity

Biological Processes:

  • Brain Development
  • Cell Cycle Arrest
  • Cellular Response To Dna Damage Stimulus
  • Cellular Response To Gamma Radiation
  • Cellular Response To Nitrosative Stress
  • Cellular Response To X-Ray
  • Determination Of Adult Lifespan
  • Dna Damage Induced Protein Phosphorylation
  • Dna Damage Response, Signal Transduction By P53 Class Mediator Resulting In Cell Cycle Arrest
  • Dna Double-Strand Break Processing
  • Dna Repair
  • Dna Replication
  • Dna Synthesis Involved In Dna Repair
  • Double-Strand Break Repair Via Homologous Recombination
  • Double-Strand Break Repair Via Nonhomologous End Joining
  • Establishment Of Macromolecular Complex Localization To Telomere
  • Establishment Of Rna Localization To Telomere
  • Heart Development
  • Histone Mrna Catabolic Process
  • Histone Phosphorylation
  • Intrinsic Apoptotic Signaling Pathway In Response To Dna Damage
  • Lipoprotein Catabolic Process
  • Meiotic Telomere Clustering
  • Mitotic Spindle Assembly Checkpoint
  • Negative Regulation Of B Cell Proliferation
  • Negative Regulation Of Telomere Capping
  • Negative Regulation Of Torc1 Signaling
  • Neuron Apoptotic Process
  • Oocyte Development
  • Peptidyl-Serine Autophosphorylation
  • Peptidyl-Serine Phosphorylation
  • Positive Regulation Of Apoptotic Process
  • Positive Regulation Of Dna Damage Response, Signal Transduction By P53 Class Mediator
  • Positive Regulation Of Histone Phosphorylation
  • Positive Regulation Of Neuron Apoptotic Process
  • Positive Regulation Of Telomerase Catalytic Core Complex Assembly
  • Positive Regulation Of Telomere Maintenance Via Telomerase
  • Positive Regulation Of Telomere Maintenance Via Telomere Lengthening
  • Pre-B Cell Allelic Exclusion
  • Protein Autophosphorylation
  • Protein Phosphorylation
  • Reciprocal Meiotic Recombination
  • Regulation Of Apoptotic Process
  • Regulation Of Autophagy
  • Regulation Of Cellular Response To Heat
  • Regulation Of Signal Transduction By P53 Class Mediator
  • Replicative Senescence
  • Response To Hypoxia
  • Response To Ionizing Radiation
  • Signal Transduction
  • Signal Transduction Involved In Mitotic G2 Dna Damage Checkpoint
  • Somitogenesis
  • Strand Displacement
  • Telomere Maintenance Via Telomerase
  • V(D)J Recombination

Drug Bank:

  • Caffeine
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| AT1| ATA| Ataxia telangiectasia gene mutated in human beings| ataxia telangiectasia mutated| ataxia-telangiectasia mutated| ataxia telangiectasia mutated homolog| ataxia telangiectasia mutated (includes complementation groups A, C and D)| ataxia telangiectasia mutated protein| ATC| ATD| atdc| ATE| ATM (ataxia telangiectasia mutated)| A-T mutated| AT mutated| A-T mutated homolog| chunp9624| D623_10013001| GW7_19749| H920_17873| M959_14487| MDA_GLEAN10004410| N333_03371| PAL_GLEAN10001951| serine-protein kinase ATM| Serine-protein kinase ATM-like protein| tel1| TEL1, telomere maintenance 1, homolog| telo1| TREES_T100013231| UY3_06933| xatm| Y1Q_013562| Y956_13538| atm

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