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 L3MBTL1, histone methyl-lysine binding protein 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
Acute Liver FailureAtm
acute lymphocytic leukemiaNbn
adenoid cystic carcinomaAtm , Brca1
adenosine deaminase deficiencyBrca1
Aicardi-Goutieres syndromeKat5
Alcoholic Liver DiseasesPsmd14
alopecia areataKdm4a
Alzheimer's diseaseAtm , Mre11a , Nbn
amyotrophic lateral sclerosis type 1Vcp
amyotrophic lateral sclerosis type 14Vcp
Angelman syndromeRnf4
Animal Disease ModelsMre11a
anterior segment mesenchymal dysgenesisEya1
aplastic anemiaNbn
Arsenic PoisoningPias1 , Rnf20
arteriosclerosisAtm
asthmaPpp2ca , Rad50
astrocytomaMre11a
ataxia telangiectasiaAtm
Ataxia Telangiectasia Like DisorderMre11a
Ataxia-Telangiectasia VariantAtm
Ataxia-Telangiectasia-Like Disorder 1Mre11a
autism spectrum disorderBaz1b , Ppp4c
autistic disorderPsmd14 , Rnf8
autosomal dominant mental retardation 49Trip12
autosomal recessive limb-girdle muscular dystrophy type 2ABrca1
B- and T-cell mixed leukemiaRnf20
B-cell lymphomaAtm , Kat5
basal cell carcinomaPpp6c
bilateral breast cancerAtm
Brain InjuriesPias1
Brain Stem NeoplasmsPpm1d
branchiootic syndromeEya1
branchiootorenal syndromeEya1
breast cancerAtm , Brca1 , Nbn , Ppm1d
Breast Cancer, FamilialAtm , Brca1 , Rad50
breast carcinomaBrca1
breast ductal carcinomaBrca1
Breast NeoplasmsAtm , Brca1 , H2afx , Kat5 , Kdm4a , L3mbtl1 , Mdc1 , Mre11a , Nbn , Rad50 , Rnf20 , Tp53bp1
Breast-Ovarian Cancer, Familial, Susceptibility To, 1Brca1 , Nbn
carcinomaBrca1
CardiomegalyKdm4a
cataractAtm
Cayler Cardiofacial SyndromeEya1
Cell Transformation, NeoplasticBrca1
cerebellar ataxiaAtm
cervix uteri carcinoma in situBrca1
Charcot-Marie-Tooth disease type 2YVcp
Chemical and Drug Induced Liver InjuryH2afx
Chromosome BreakageBrca1 , H2afx
Chronic Lymphocytic Leukemia, B-CellAtm
Colonic NeoplasmsBrca1 , Mre11a
Congenital AbnormalitiesEya1
congenital heart diseaseEya1
congenital muscular dystrophyRif1
congenital myasthenic syndrome 10Brca1
congestive heart failurePpp2ca
coronin-1A deficiencyPpp4c
Craniofacial AbnormalitiesEya1
Cutaneous Malignant Melanoma, Susceptibility To, 1Ppp2ca
cutaneous T cell lymphomaAtm
dementiaMre11a , Vcp
dilated cardiomyopathyAtm
disease of cellular proliferationAtm , Brca1
disease of metabolismNbn
dysgerminomaBrca1
dystoniaMre11a
Embryo LossUbe2n
Endometrial NeoplasmsAtm , Mre11a
Fanconi anemiaBrca1 , Vcp
Fanconi anemia complementation group ABrca1
FibrosisAtm
focal segmental glomerulosclerosisPias1
genetic diseaseAtm , Ppm1d , Rif1 , Trip12
glioblastoma multiformeH2afx
Hearing Loss, ConductiveEya1
heart diseasePpp2ca
hepatocellular carcinomaAtm
hereditary breast ovarian cancer syndromeAtm , Brca1 , Mre11a , Nbn
Hereditary Neoplastic SyndromesAtm , Brca1 , Brcc3 , Mre11a , Nbn , Ppm1d , Ppp2ca , Rad50
HyperalgesiaPpp2ca
HypercholesterolemiaAtm
Hyperphosphatasia with Mental Retardation Syndrome 2Vcp
HyperplasiaBrca1
hypertensionBrca1 , H2afx
Hypertrophy, Left VentricularPpp5c
IgA glomerulonephritisOtub1
Inclusion Body Myopathy 3, Autosomal DominantVcp
inclusion body myopathy with Paget disease of bone and frontotemporal dementiaVcp
inclusion body myositisVcp
infertilityAtm
Insulin ResistanceAtm
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLDPpm1d
invasive ductal carcinomaBrca1 , Rad50
iron deficiency anemiaKat5
Kidney Reperfusion InjuryAtm , H2afx
leukemiaAtm
Leukemia, Prolymphocytic, T-CellAtm
lissencephalyNbn
liver cirrhosisRad50
liver neoplasmH2afx
Liver Neoplasms, ExperimentalPpp2ca
Liver Reperfusion InjuryH2afx
long QT syndromeUbr5
lung adenocarcinomaMre11a
Lung AgenesisEya1
Lung NeoplasmsKdm4a , Mdc1
lung squamous cell carcinomaPpp6c
lupus nephritisOtub1
lymphomaAtm
malignant gliomaPpm1d
Mammary Neoplasms, AnimalBrca1
Mammary Neoplasms, ExperimentalBrca1 , H2afx
mantle cell lymphomaAtm
melanomaAtm , Ppp2ca , Ppp6c
mental depressionMre11a
Metabolic SyndromeAtm
microcephalyNbn
microcephaly and chorioretinopathy 3Tp53bp1
Microcephaly with Mental Retardation and Digital AnomaliesRbbp8
Micronuclei, Chromosome-DefectiveH2afx
mitochondrial myopathyEya1
mouth diseaseBrca1
Multiple AbnormalitiesAtm , Rif1
Muscle WeaknessRif1
muscular dystrophyRif1
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 11Brca1
myocardial infarctionAtm , Rad50
Myocardial IschemiaPpp2ca
Myocardial Reperfusion InjuryH2afx
nemaline myopathyRif1
nemaline myopathy 2Rif1
Neoplasm Recurrence, LocalH2afx , Nbn
nephrogenic diabetes insipidusRnf40
Neurocutaneous SyndromesMre11a
Neurodevelopmental DisordersPpm1d , Trip12
Nijmegen breakage syndromeNbn
Nijmegen Breakage Syndrome-Like DisorderRad50
Occupational DiseasesBrcc3
Oculomotor Apraxia, Cogan TypeAtm
osteoporosisAtm
Otofaciocervical Syndrome 1Eya1
ovarian cancerBrca1 , Mre11a
Ovarian NeoplasmsBrca1 , Mre11a , Nbn
Paget's disease of boneVcp
pancreatic cancerAtm , Brca1 , Rbbp8 , Tp53bp1
pancreatic carcinomaRbbp8
Parkinson's diseaseAtm , Ppp2ca
Parkinsonian DisordersMre11a
peripheral nervous system diseaseRif1
peripheral T-cell lymphomaAtm
pleomorphic xanthoastrocytomaBaz1b
Plummer-Vinson SyndromeRbbp8
PolyploidyH2afx
Porokeratosis Punctata Palmaris et PlantarisBrca1
pre-malignant neoplasmAtm , Ppm1d
precursor lymphoblastic lymphoma/leukemiaNbn
Pregnancy in DiabeticsBrcc3
Premature AgingBrca1
premature menopauseNbn
premature ovarian failureNbn
Prenatal Exposure Delayed EffectsAtm
prostate cancerBrca1 , Eya1 , Nbn , Ppp2ca , Rad50 , Trip12
prostate carcinoma in situAtm
Prostatic NeoplasmsAtm , Brca1 , Kat5 , Kdm4a , Mre11a , Nbn , Ppp2ca
pulmonary hypertensionTp53bp1
punctate palmoplantar keratoderma type IIBrca1
renal agenesisEya1
renal cell carcinomaAtm
renal hypoplasiaEya1
rhabdomyosarcomaBrca1
Riddle syndromeRnf168
schizophreniaPpp4c , Rnf168 , Rnf20
Seckel syndromeRbbp8
Seckel syndrome 2Rbbp8
skin diseasePias1
Smith-Magenis syndromeBrca1 , Ppm1d
Spinal Cord InjuriesAtm
Spondylocostal Dysostosis 5Ppp4c
squamous cell carcinomaAtm
status epilepticusAtm , H2afx
Stevens-Johnson syndromeVcp
Stomach NeoplasmsAtm , Kdm4a , Mdc1 , Mre11a
stomatitisNbn
Testicular NeoplasmsRnf4
transient cerebral ischemiaH2afx
Triple Negative Breast NeoplasmsMre11a
Tumor Predisposition SyndromeAtm , Brca1 , Mre11a , Nbn , Rad50
type 2 diabetes mellitusPpp2ca
urinary bladder cancerAtm , Brca1 , Kdm4a , Mre11a
Urologic NeoplasmsRad50
Uterine Cervical NeoplasmsBrca1 , Mdc1
Ventricular Dysfunction, LeftAtm
Williams-Beuren 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's 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
Chagas disease pathwayPpp2ca
dopamine signaling pathwayPpp2ca
Endoplasmic Reticulum-associated degradation pathwayVcp
forkhead class A signaling pathwayBrca1
Hedgehog signaling pathwayPias1
hepatitis C 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 carcinoma 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
type II interferon signaling pathwayPias1 , Pias4
ubiquitin/proteasome degradation pathwayBrca1 , Pias1 , Pias4 , Psmd14 , Trip12 , Ube2n , Ubr5
Wnt signaling pathwayPpp2ca
Phenotype Annotations Associated with Genes in the ataxia telangiectasia-mutated (ATM) signaling pathway

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

Ontology Path Diagram:

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