ATAXIA TELANGIECTASIA-MUTATED (ATM) SIGNALING PATHWAY (PW:0001361)

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Description

DNA lesions, particularly double-strand breaks (DSBs), can have severe genotoxic effects if not promptly handled. DSBs can be initiated by DNA damaging agents such as ionizing radiation or arise during replication through exposure to metabolites, and are also physiological intermediates generated during V(D)J [variable (V), diversity (D) and joining (J) recombination] and class switch recombination in lymphocytes of the immune system. The cells possess a robust response mechanism to DNA damage w

Pathway Diagram:

Elsevier Inc. non-homologous end joining pathway of double-strand break repair apoptotic cell death pathway ATM/DSB regulators MRN complex PSer139 PY142 Rbbp8 Brca1 Rnf8 Ube2n Rnf168 Tp53bp1 Mum1 Atm --+> p53 signaling pathway Atm ---> MRN complex Rnf40 Kat5 Kat5 ---> Atm Atm --+> cell cycle checkpoint pathway H2afx ---> chromatin modulation/relaxation Atm ---> PSer Rnf20 Mdc1 --+> Atm H2afx ---- Mdc1 Atm ---- MRN complex Atm ---> Mdc1 Mdc1 ---- Rnf8 Atm ---> Rnf20 Atm ---> Rnf40 Atm ---> Brca1 Rnf40 ---> chromatin modulation/relaxation Rnf20 ---> chromatin modulation/relaxation Atm --+> apoptotic cell death pathway Atm Atm ---- Mdc1 Baz1b Baz1b ---> H2afx Mdc1 --+> MRN complex chromatin modulation/relaxation ATM/DSB regulators ---> H2afx ATM/DSB regulators ---> Mdc1 ATM/DSB regulators ---> Atm ATM/DSB regulators ---> K63-polyubiquitination PSer H2afx Atm ---> H2afx non-homologous end joining pathway of double-strand break repair --+> V(D)J recombination Rif1 ---- Tp53bp1 Brca1 --+> homologous recombination pathway of double-strand break repair Tp53bp1 --+> non-homologous end joining pathway of double-strand break repair K63-polyubiquitination non-homologous end joining pathway of double-strand break repair --+> class switch recombination V(D)J recombination class switch recombination Mdc1 Rif1 Mum1 ---- Tp53bp1 Brca1 ---- Rbbp8 p53 signaling pathway homologous recombination pathway of double-strand break repair adaptive immune response pathway Brca1 |--| Tp53bp1 Atm ---> Tp53bp1 cell cycle checkpoint pathway
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Genes in Pathway:

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ataxia telangiectasia-mutated (ATM) signaling pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:8661225
RGD:8661232
G Baz1b bromodomain adjacent to zinc finger domain, 1B JBrowse link 12 24,478,882 24,536,851 RGD:8661242
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8661237
G Brcc3 BRCA1/BRCA2-containing complex, subunit 3 JBrowse link 9 9,863,380 9,865,920 RGD:8661242
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:8661242
G Eya3 EYA transcriptional coactivator and phosphatase 3 JBrowse link 5 150,833,754 150,915,390 RGD:8661242
G H2afx H2A histone family, member X JBrowse link 8 48,665,652 48,666,981 RGD:8661232
RGD:8661242
G Kat5 lysine acetyltransferase 5 JBrowse link 1 220,967,795 220,974,596 RGD:8661225
RGD:8661232
G Kdm4a lysine demethylase 4A JBrowse link 5 136,967,650 137,014,402 RGD:8661237
RGD:8661242
G L3mbtl1 l(3)mbt-like 1 (Drosophila) JBrowse link 3 159,316,580 159,348,914 RGD:8661237
RGD:8661242
G Mdc1 mediator of DNA damage checkpoint 1 JBrowse link 20 3,405,017 3,419,831 RGD:8661232
RGD:8661242
G Mre11a MRE11 homolog A, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:8661232
G Mum1 melanoma associated antigen (mutated) 1 JBrowse link 7 12,331,288 12,348,263 RGD:8661237
G Nbn nibrin JBrowse link 5 29,622,347 29,656,877 RGD:8661232
G Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 JBrowse link 1 222,451,674 222,459,952 RGD:8661242
G Pias1 protein inhibitor of activated STAT, 1 JBrowse link 8 67,771,720 67,869,015 RGD:8661242
G Pias4 protein inhibitor of activated STAT, 4 JBrowse link 7 11,414,565 11,428,090 RGD:8661242
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D JBrowse link 10 72,909,550 72,945,884 RGD:8661232
RGD:8661242
G Ppp2ca protein phosphatase 2 catalytic subunit alpha JBrowse link 10 37,534,449 37,554,861 RGD:8661232
RGD:8661242
G Ppp4c protein phosphatase 4, catalytic subunit JBrowse link 1 198,219,012 198,225,775 RGD:8661242
G Ppp5c protein phosphatase 5, catalytic subunit JBrowse link 1 78,944,054 78,968,361 RGD:8661232
G Ppp6c protein phosphatase 6, catalytic subunit JBrowse link 3 23,478,123 23,510,959 RGD:8661242
G Psmd14 proteasome 26S subunit, non-ATPase 14 JBrowse link 3 47,578,449 47,673,330 RGD:8661242
G Rad50 RAD50 double strand break repair protein JBrowse link 10 39,002,130 39,054,042 RGD:8661232
G Rbbp8 RB binding protein 8, endonuclease JBrowse link 18 3,134,630 3,227,702 RGD:8661237
G Rif1 replication timing regulatory factor 1 JBrowse link 3 37,599,540 37,648,818 RGD:8661237
G Rnf168 ring finger protein 168 JBrowse link 11 71,721,242 71,743,421 RGD:8661232
RGD:8661237
G Rnf20 ring finger protein 20 JBrowse link 5 64,892,996 64,920,397 RGD:8661225
G Rnf4 ring finger protein 4 JBrowse link 14 81,658,400 81,679,756 RGD:8661242
G Rnf40 ring finger protein 40 JBrowse link 1 199,037,472 199,052,823 RGD:8661225
G Rnf8 ring finger protein 8 JBrowse link 20 8,285,380 8,309,858 RGD:8661232
RGD:8661237
G Tp53bp1 tumor protein p53 binding protein 1 JBrowse link 3 113,160,030 113,259,701 RGD:8661237
G Trip12 thyroid hormone receptor interactor 12 JBrowse link 9 92,305,059 92,435,388 RGD:8661242
G Ube2n ubiquitin-conjugating enzyme E2N JBrowse link 7 36,610,147 36,640,190 RGD:8661232
RGD:8661237
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 JBrowse link 7
7
76,789,110
76,839,661
76,835,517
76,907,441
RGD:8661242
G Usp16 ubiquitin specific peptidase 16 JBrowse link 11 27,101,213 27,130,345 RGD:8661242
G Usp3 ubiquitin specific peptidase 3 JBrowse link 8 72,207,970 72,284,871 RGD:8661242
G Usp44 ubiquitin specific peptidase 44 JBrowse link 7 34,714,293 34,759,352 RGD:8661242
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8661237
RGD:8661242

Additional Elements in Pathway:

(includes Gene Groups, Small Molecules, Other Pathways..etc.)
Object TypePathway ObjectPathway Object Description
ComplexMRN complexThe complex of three proteins involved in DSBs recognition and ATM recruitment
Gene GroupATM/DSB regulatorsThe various enzymes that modify the components of and modulate ATM signaling

Pathway Gene Annotations

Disease Annotations Associated with Genes in the ataxia telangiectasia-mutated (ATM) signaling pathway
Disease TermsGene Symbols
Aging, PrematureBrca1
Aicardi-Goutieres SyndromeKat5
Alopecia AreataKdm4a
Alzheimer DiseaseAtm , Mre11a , Nbn
Amyotrophic Lateral Sclerosis 1Vcp
Amyotrophic Lateral Sclerosis 14, with or without Frontotemporal Dementia Vcp
Anemia, AplasticNbn
Anemia, Iron-DeficiencyKat5
Angelman SyndromeRnf4
Anterior Segment Mesenchymal DysgenesisEya1
Apraxia, Oculomotor, Cogan TypeAtm
Arsenic PoisoningPias1 , Rnf20
ArteriosclerosisAtm
AsthmaPpp2ca , Rad50
AstrocytomaMre11a
AtaxiaAtm
Ataxia TelangiectasiaAtm
Ataxia Telangiectasia Like DisorderMre11a
Ataxia-Telangiectasia VariantAtm
Ataxia-Telangiectasia-Like Disorder 1Mre11a
Autism Spectrum DisorderBaz1b , Ppp4c
Autistic DisorderRnf8
Brain InjuriesPias1
Brain Stem NeoplasmsPpm1d
Branchio-Oto-Renal SyndromeEya1
Branchiootic SyndromeEya1
Breast Cancer, FamilialBrca1
Breast NeoplasmsAtm , Brca1 , H2afx , Kat5 , Kdm4a , L3mbtl1 , Mdc1 , Mre11a , Nbn , Ppm1d , Rad50 , Rnf20 , Tp53bp1
Breast-Ovarian Cancer, Familial, Susceptibility To, 1Brca1 , Nbn
CarcinomaBrca1
Carcinoma, Adenoid CysticAtm , Brca1
Carcinoma, Basal CellPpp6c
Carcinoma, Ductal, BreastBrca1 , Rad50
Carcinoma, HepatocellularAtm
Carcinoma, Renal CellAtm
Carcinoma, Squamous CellAtm
CardiomegalyKdm4a
Cardiomyopathy, DilatedAtm
CataractAtm
Cayler Cardiofacial SyndromeEya1
Cell Transformation, NeoplasticBrca1
Cerebellar AtaxiaAtm
Cervical Intraepithelial NeoplasiaBrca1
Charcot-Marie-Tooth Disease, Axonal, Type 2YVcp
Chromosome BreakageBrca1 , H2afx
Colonic NeoplasmsBrca1 , Mre11a
Congenital AbnormalitiesEya1
Craniofacial AbnormalitiesEya1
DementiaVcp
Diabetes Insipidus, NephrogenicRnf40
Diabetes Mellitus, Type 2Ppp2ca
Drug-Induced Liver InjuryH2afx
Dyskeratosis CongenitaNbn
Embryo LossUbe2n
Endometrial NeoplasmsAtm , Mre11a
Fanconi AnemiaBrca1 , Vcp
FibrosisAtm
Genetic Diseases, InbornAtm , Rif1
GlioblastomaH2afx
GliomaPpm1d
Glomerulonephritis, IGAOtub1
Glomerulosclerosis, Focal SegmentalPias1
Hearing Loss, ConductiveEya1
Heart Defects, CongenitalEya1
Heart DiseasesPpp2ca
Heart FailurePpp2ca
Hereditary Breast and Ovarian Cancer SyndromeAtm , Brca1 , Mre11a
Hereditary Renal AgenesisEya1
HypercholesterolemiaAtm
HyperplasiaBrca1
HypertensionBrca1 , H2afx
Hypertension, PulmonaryTp53bp1
Hypertrophy, Left VentricularPpp5c
Inclusion Body Myopathy 3, Autosomal DominantVcp
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal DementiaVcp
Insulin ResistanceAtm
Ischemic Attack, TransientH2afx
Kidney Reperfusion InjuryAtm , H2afx
Leukemia, Biphenotypic, AcuteRnf20
Leukemia, Lymphocytic, Chronic, B-CellAtm
Leukemia, Prolymphocytic, T-CellAtm
LissencephalyNbn
Liver CirrhosisRad50
Liver Diseases, AlcoholicPsmd14
Liver Failure, AcuteAtm
Liver NeoplasmsH2afx
Liver Neoplasms, ExperimentalPpp2ca
Liver Reperfusion InjuryH2afx
Long QT SyndromeUbr5
Lung agenesisEya1
Lung NeoplasmsKdm4a , Mdc1
Lupus NephritisOtub1
Lymphoma, B-CellAtm , Kat5
Lymphoma, Mantle-CellAtm
Lymphoma, T-Cell, CutaneousAtm
Lymphoma, T-Cell, PeripheralAtm
Mammary Neoplasms, AnimalBrca1
Mammary Neoplasms, ExperimentalBrca1 , H2afx
MelanomaAtm , Ppp2ca , Ppp6c
Melanoma, Cutaneous Malignant, Susceptibility To, 1Ppp2ca
Metabolic DiseasesNbn
Metabolic Syndrome XAtm
MicrocephalyNbn
Microcephaly and Chorioretinopathy, Autosomal Recessive, 3Tp53bp1
Microcephaly with Mental Retardation and Digital AnomaliesRbbp8
Micronuclei, Chromosome-DefectiveH2afx
Mitochondrial MyopathiesEya1
Mouth DiseasesBrca1
Muscle WeaknessRif1
Muscular DystrophiesRif1
Myocardial InfarctionAtm , Rad50
Myocardial IschemiaPpp2ca
Myocardial Reperfusion InjuryH2afx
Myopathies, NemalineRif1
Myositis, Inclusion BodyVcp
Nemaline Myopathy 2Rif1
Neoplasm Recurrence, LocalH2afx , Nbn
NeoplasmsAtm , Brca1
Neoplastic Syndromes, HereditaryAtm , Brca1 , Brcc3 , Mre11a , Nbn , Ppm1d , Rad50
Neurocutaneous SyndromesMre11a
Nijmegen Breakage SyndromeNbn
Nijmegen Breakage Syndrome-Like DisorderRad50
Occupational DiseasesBrcc3
Osteitis DeformansVcp
OsteoporosisAtm
Otofaciocervical SyndromeEya1
Ovarian NeoplasmsBrca1 , Mre11a , Nbn
Pancreatic CarcinomaRbbp8
Pancreatic NeoplasmsAtm , Brca1 , Rbbp8 , Tp53bp1
Parkinson DiseaseAtm , Ppp2ca
Plummer-Vinson SyndromeRbbp8
PolyploidyH2afx
Precancerous ConditionsAtm , Ppm1d
Precursor Cell Lymphoblastic Leukemia-LymphomaNbn
Pregnancy in DiabeticsBrcc3
Prenatal Exposure Delayed EffectsAtm
Prostatic Intraepithelial NeoplasiaAtm
Prostatic NeoplasmsAtm , Brca1 , Eya1 , Kat5 , Kdm4a , Nbn , Ppp2ca , Rad50 , Trip12
RhabdomyosarcomaBrca1
Riddle SyndromeRnf168
SchizophreniaPpp4c , Rnf168 , Rnf20
Seckel Syndrome 2Rbbp8
Skin DiseasesPias1
Smith-Magenis SyndromeBrca1 , Ppm1d
Spinal Cord InjuriesAtm
Spondylocostal Dysostosis 5Ppp4c
Status EpilepticusAtm , H2afx
Stevens-Johnson SyndromeVcp
Stomach NeoplasmsAtm , Kdm4a , Mdc1 , Mre11a
StomatitisNbn
Testicular NeoplasmsRnf4
Triple Negative Breast NeoplasmsMre11a
Tumor Predisposition SyndromeAtm , Brca1 , Mre11a , Nbn , Rad50
Urinary Bladder NeoplasmsAtm , Brca1 , Kdm4a , Mre11a
Urologic NeoplasmsRad50
Uterine Cervical NeoplasmsBrca1 , Mdc1
Ventricular Dysfunction, LeftAtm
Williams SyndromeBaz1b
Pathway Annotations Associated with Genes in the ataxia telangiectasia-mutated (ATM) signaling pathway
Pathway TermsGene Symbols
adenosine monophosphate-activated protein kinase (AMPK) signaling pathwayPpp2ca
aldosterone signaling pathwayPias1
altered p53 signaling pathwayMre11a
altered ubiquitin/proteasome degradation pathwayUbe2n
Alzheimer disease pathwayUbe2n
apoptotic cell death pathwayAtm
ataxia telangiectasia-mutated (ATM) signaling pathwayAtm , Baz1b , Brca1 , Brcc3 , Eya1 , Eya3 , H2afx , Kat5 , Kdm4a , L3mbtl1 , Mdc1 , Mre11a , Mum1 , Nbn , Otub1 , Pias1 , Pias4 , Ppm1d , Ppp2ca , Ppp4c , Ppp5c , Ppp6c , Psmd14 , Rad50 , Rbbp8 , Rif1 , Rnf168 , Rnf20 , Rnf4 , Rnf40 , Rnf8 , Tp53bp1 , Trip12 , Ube2n , Ubr5 , Usp16 , Usp3 , Usp44 , Vcp
calcium/calmodulin dependent kinase 2 signaling pathwayPpp2ca
cell cycle pathway, mitoticAtm
dopamine signaling pathwayPpp2ca
Endoplasmic Reticulum-associated degradation pathwayVcp
forkhead class A signaling pathwayBrca1
Hedgehog signaling pathwayPias1
hepatitis C virus infection pathwayPias1 , Pias4 , Ppp2ca
histone modification pathwayBrcc3 , H2afx , Kat5 , Kdm4a , L3mbtl1 , Mdc1 , Tp53bp1 , Usp16 , Usp3 , Usp44
homologous recombination pathway of double-strand break repairAtm , Brca1 , Mre11a , Nbn , Rad50 , Rbbp8
INO80 family mediated chromatin remodeling pathwayKat5
interleukin-1 signaling pathwayUbe2n
interleukin-6 signaling pathwayPias1
ISWI family mediated chromatin remodeling pathwayBaz1b
Jak-Stat signaling pathwayPias1 , Pias4
long term depressionPpp2ca
mitogen activated protein kinase signaling pathwayPpp5c
mRNA decay pathwayPpp2ca
non-homologous end joining pathway of double-strand break repairMre11a , Rad50 , Rif1 , Tp53bp1
Notch signaling pathwayRbbp8
nuclear factor kappa B signaling pathwayAtm
nuclear factor, erythroid 2 like 2 signaling pathwayBrca1 , Rnf4
p38 MAPK signaling pathwayAtm , Ppm1d
p53 signaling pathwayAtm , Brca1 , Kat5 , Ppm1d , Ppp2ca
phosphatidylinositol 3-kinase-Akt signaling pathwayPpp2ca
platelet-derived growth factor signaling pathwayPpp2ca
Rho/Rac/Cdc42 mediated signaling pathwayPpp5c
small cell lung cancer pathwayPias1 , Pias4
systemic lupus erythematosus pathwayH2afx
Toll-like receptor signaling pathwayUbe2n
transforming growth factor-beta Smad dependent signaling pathwayPpp2ca
transforming growth factor-beta superfamily mediated signaling pathwayPpp2ca
Trypanosoma cruzi infection pathwayPpp2ca
type II interferon signaling pathwayPias1 , Pias4
ubiquitin/proteasome degradation pathwayBrca1 , Pias1 , Pias4 , Psmd14 , Trip12 , Ube2n , Ubr5
Wnt signaling pathwayPpp2ca

References Associated with the ataxia telangiectasia-mutated (ATM) signaling pathway:

Ontology Path Diagram:

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