NON-HOMOLOGOUS END JOINING PATHWAY OF DOUBLE-STRAND BREAK REPAIR (PW:0000203)

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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 the joining (J) recombination] and class switch recombination in lymphocytes of the immune system. The cells possess a robust response mechanism to DNA damag

Pathway Diagram:

Elsevier Inc. Pol X members ---- Xrcc6 Pol X members ---- Xrcc5 Pol X members Aplf ---- Xrcc4 Aplf Prkdc Dclre1c Prkdc ---> Dclre1c Dclre1c ---- Prkdc Xrcc5 --+> Prkdc Xrcc6 --+> Prkdc Xrcc6 Xrcc5 Aptx Rif1 Tp53bp1 Pnkp ---- Xrcc4 Aptx ---- Xrcc4 Xrcc4 Pnkp ataxia telangiectasia-mutated (ATM) signaling pathway Nhej1 ---- Xrcc4 Nhej1 Lig4 ---- Xrcc4 Lig4 Prkdc ---- Xrcc6 Prkdc ---- Xrcc5 Rif1 ---- Tp53bp1
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Genes in Pathway:

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non-homologous end joining pathway of double-strand break repair term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aplf aprataxin and PNKP like factor JBrowse link 4 119,514,822 119,568,764 RGD:8662352
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:8662352
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:6907045
RGD:8662352
G Dntt DNA nucleotidylexotransferase JBrowse link 1 260,289,626 260,321,174 RGD:6907045
RGD:8662352
G Fen1 flap structure-specific endonuclease 1 JBrowse link 1 226,251,516 226,256,160 RGD:6907045
G Lig4 DNA ligase 4 JBrowse link 16 85,331,771 85,339,496 RGD:6907045
RGD:8662352
G Mre11a MRE11 homolog A, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:6907045
G Nhej1 nonhomologous end-joining factor 1 JBrowse link 9 82,230,230 82,327,923 RGD:6907045
RGD:8662352
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:8662352
G Poll DNA polymerase lambda JBrowse link 1 265,290,337 265,298,847 RGD:6907045
RGD:8662352
G Polm DNA polymerase mu JBrowse link 14 86,069,378 86,079,327 RGD:6907045
RGD:8662352
G Prkdc protein kinase, DNA-activated, catalytic subunit JBrowse link 11 89,293,547 89,510,948 RGD:8662352
G Rad50 RAD50 double strand break repair protein JBrowse link 10 39,002,130 39,054,042 RGD:6907045
G Rif1 replication timing regulatory factor 1 JBrowse link 3 37,599,540 37,648,818 RGD:8661237
G Tp53bp1 tumor protein p53 binding protein 1 JBrowse link 3 113,160,030 113,259,701 RGD:8661237
G Xrcc4 X-ray repair cross complementing 4 JBrowse link 2 18,674,496 18,927,463 RGD:6907045
RGD:8662352
G Xrcc5 X-ray repair cross complementing 5 JBrowse link 9 79,659,275 79,748,050 RGD:6907045
RGD:8662352
G Xrcc6 X-ray repair cross complementing 6 JBrowse link 7 123,259,881 123,280,613 RGD:6907045
RGD:8662352

Pathway Gene Annotations

Disease Annotations Associated with Genes in the non-homologous end joining pathway of double-strand break repair
Disease TermsGene Symbols
adenocarcinomaFen1
adenoid cystic carcinomaPrkdc
Alzheimer's diseaseMre11a
Animal Disease ModelsMre11a , Xrcc5 , Xrcc6
asthmaRad50
astrocytomaMre11a
Ataxia Telangiectasia Like DisorderMre11a
ataxia with oculomotor apraxia type 1Aptx
ataxia with oculomotor apraxia type 2Aptx
Ataxia-Oculomotor Apraxia 4Pnkp
Ataxia-Telangiectasia-Like Disorder 1Mre11a
Athabaskan Severe Combined ImmunodeficiencyDclre1c
Autoimmune DiseasesFen1
basal cell carcinomaXrcc5 , Xrcc6
Breast Cancer, FamilialRad50
Breast NeoplasmsFen1 , Mre11a , Rad50 , Tp53bp1
Chemical and Drug Induced Liver InjuryPrkdc
Chromosome AberrationsXrcc4
chronic obstructive pulmonary diseaseXrcc5
coenzyme Q10 deficiency diseaseAptx
Colonic NeoplasmsMre11a
Colorectal NeoplasmsFen1 , Lig4
common variable immunodeficiencyDclre1c , Xrcc6
congenital muscular dystrophyRif1
dementiaMre11a
Developmental DisabilitiesPnkp
DNA ligase IV deficiencyLig4
DNA Repair-Deficiency DisordersPnkp
dystoniaMre11a
Early Infantile Epileptic Encephalopathy, 12Pnkp
Endometrial NeoplasmsMre11a
Generalized EpilepsyPnkp
genetic diseaseLig4 , Pnkp , Rif1
hemophagocytic lymphohistiocytosisDclre1c
hepatic encephalopathyPrkdc
hereditary breast ovarian cancer syndromeMre11a
Hereditary Neoplastic SyndromesMre11a , Rad50
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIESPrkdc
Intestinal NeoplasmsFen1
invasive ductal carcinomaRad50
isolated growth hormone deficiency type IAXrcc4
liver cirrhosisRad50
lung adenocarcinomaMre11a , Xrcc5 , Xrcc6
lung diseasePrkdc
Lung NeoplasmsFen1
malignant gliomaLig4
Massive Hepatic NecrosisPrkdc
mental depressionMre11a
microcephalyPnkp
microcephaly and chorioretinopathy 3Tp53bp1
Microcephaly, Seizures, and Developmental DelayPnkp
Multiple AbnormalitiesRif1
multiple myelomaLig4 , Xrcc4 , Xrcc5
Muscle WeaknessRif1
muscular dystrophyRif1
myocardial infarctionRad50
nemaline myopathyRif1
nemaline myopathy 2Rif1
Neurocutaneous SyndromesMre11a
Nijmegen Breakage Syndrome-Like DisorderRad50
olivopontocerebellar atrophyAptx
Omenn syndromeDclre1c
ovarian cancerMre11a
Ovarian NeoplasmsMre11a
pancreatic cancerLig4 , Tp53bp1
Parkinsonian DisordersMre11a
peripheral nervous system diseaseRif1
pleomorphic xanthoastrocytomaPolm
PoisoningPrkdc
precursor lymphoblastic lymphoma/leukemiaDntt
prostate cancerRad50
Prostatic NeoplasmsLig4 , Mre11a , Prkdc
pulmonary hypertensionTp53bp1
severe combined immunodeficiencyDclre1c , Prkdc
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing RadiationNhej1
severe combined immunodeficiency with sensitivity to ionizing radiationDclre1c , Lig4
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positivePrkdc
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTIONXrcc4
squamous cell carcinomaPrkdc , Xrcc5 , Xrcc6
Stomach NeoplasmsMre11a
Triple Negative Breast NeoplasmsMre11a
Tumor Predisposition SyndromeMre11a , Rad50
urinary bladder cancerMre11a
Urologic NeoplasmsRad50
visual epilepsyPnkp
Pathway Annotations Associated with Genes in the non-homologous end joining pathway of double-strand break repair
Phenotype Annotations Associated with Genes in the non-homologous end joining pathway of double-strand break repair

References Associated with the non-homologous end joining pathway of double-strand break repair:

Ontology Path Diagram:

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