MISMATCH REPAIR PATHWAY (PW:0000662)

View Ontology Report

Description

DNA mismatch repair (MMR) represents a highly conserved pathway that assures the correct base matching of the duplex. Despite the high replication fidelity of polymerases, mismatched bases may be introduced into the daughter strand during DNA replication; small deletion/insertion loops may be introduced during replication of repetitive DNA tracts. If uncorrected, mismatches will give rise to potentially deleterious mutations. MMR pathway has been well studied and characterized in E. col

Pathway Diagram:

Ariadne Genomics Inc. Rpa complex Pcna pold complex ATP Rfc complex Msh members Mlh members Pms members Exo1 ---- Pcna Msh members ---- Pcna Mlh members ---- Pcna Pcna ---- pold complex Exo1 ---- Mlh members Exo1 ---- Msh members Lig1 ---- Pcna Pcna ---- Rfc complex Exo1 excised base Lig1
GO TO:

Genes in Pathway:

show annotations for term's descendants       view all columns           Sort by:
 
mismatch repair pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exo1 exonuclease 1 JBrowse link 13 93,936,989 93,962,749 RGD:2306716
RGD:6907045
G Hmgb1 high mobility group box 1 JBrowse link 12 7,082,529 7,090,246 RGD:2306716
G Lig1 DNA ligase 1 JBrowse link 1 75,356,212 75,394,757 RGD:2306716
RGD:6907045
G Mlh1 mutL homolog 1 JBrowse link 8 119,486,655 119,523,716 RGD:2306716
RGD:6907045
G Mlh3 mutL homolog 3 JBrowse link 6 109,059,386 109,095,876 RGD:2306716
RGD:6907045
G Msh2 mutS homolog 2 JBrowse link 6 11,215,951 11,274,916 RGD:2306716
RGD:6907045
G Msh3 mutS homolog 3 JBrowse link 2 21,790,048 21,931,791 RGD:2306716
RGD:6907045
G Msh6 mutS homolog 6 JBrowse link 6 11,644,565 11,662,389 RGD:2306716
G Pcna proliferating cell nuclear antigen JBrowse link 3 124,880,698 124,884,570 RGD:2306716
RGD:6907045
G Pms1 PMS1 homolog 1, mismatch repair system component JBrowse link 9 53,120,656 53,206,520 RGD:2306716
G Pms2 PMS1 homolog 2, mismatch repair system component JBrowse link 12 12,714,394 12,738,654 RGD:2306716
RGD:6907045
G Pold1 DNA polymerase delta 1, catalytic subunit JBrowse link 1 100,538,066 100,554,105 RGD:2306716
RGD:6907045
G Pold2 DNA polymerase delta 2, accessory subunit JBrowse link 14 86,111,416 86,117,578 RGD:2306716
RGD:6907045
G Pold3 DNA polymerase delta 3, accessory subunit JBrowse link 1 165,085,142 165,122,385 RGD:2306716
RGD:6907045
G Pold4 DNA polymerase delta 4, accessory subunit JBrowse link 1 219,480,841 219,483,244 RGD:2306716
RGD:6907045
G Rfc1 replication factor C subunit 1 JBrowse link 14 44,627,528 44,702,205 RGD:2306716
RGD:6907045
G Rfc2 replication factor C subunit 2 JBrowse link 12 25,130,375 25,143,480 RGD:2306716
RGD:6907045
G Rfc3 replication factor C subunit 3 JBrowse link 12 1,460,581 1,471,344 RGD:2306716
RGD:6907045
G Rfc4 replication factor C subunit 4 JBrowse link 11 81,358,592 81,373,044 RGD:2306716
RGD:6907045
G Rfc5 replication factor C subunit 5 JBrowse link 12 44,931,494 44,941,051 RGD:2306716
RGD:6907045
G Rpa1 replication protein A1 JBrowse link 10 62,140,419 62,191,518 RGD:2306716
RGD:6907045
G Rpa2 replication protein A2 JBrowse link 5 150,957,041 150,967,597 RGD:2306716
RGD:6907045
G Rpa3 replication protein A3 JBrowse link 4 34,279,320 34,282,351 RGD:2306716
RGD:6907045
G Ssbp1 single stranded DNA binding protein 1 JBrowse link 4 68,634,844 68,645,112 RGD:6907045
altered mismatch repair pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mlh1 mutL homolog 1 JBrowse link 8 119,486,655 119,523,716 RGD:2306714
RGD:4143515
G Msh2 mutS homolog 2 JBrowse link 6 11,215,951 11,274,916 RGD:2306714
G Msh6 mutS homolog 6 JBrowse link 6 11,644,565 11,662,389 RGD:2306714
G Pms1 PMS1 homolog 1, mismatch repair system component JBrowse link 9 53,120,656 53,206,520 RGD:2306714
G Pms2 PMS1 homolog 2, mismatch repair system component JBrowse link 12 12,714,394 12,738,654 RGD:2306714

Additional Elements in Pathway:

(includes Gene Groups, Small Molecules, Other Pathways..etc.)
Object TypePathway ObjectPathway Object Description
Functional ClassMlh membersMhh gene products orthologs of MutL
Functional ClassMsh membersMsh gene products orthologs of MutS
Functional ClassPms membersPms gene products orthologs of MutL
ComplexPOLD complexpolymerase delta complex
ComplexRfc complexreplication factor C complex
ComplexRpa complexreplication protein A complex

Pathway Gene Annotations

Disease Annotations Associated with Genes in the mismatch repair pathway
Disease TermsGene Symbols
3MC syndrome 1Rfc4
Acute Lung InjuryHmgb1
Acute-On-Chronic Liver FailureHmgb1
adenocarcinomaPcna
Alzheimer's diseaseHmgb1
amyotrophic lateral sclerosisHmgb1
Animal Disease ModelsRfc4
Arsenic PoisoningSsbp1
ascending colon cancerMsh2
Ataxia Telangiectasia Like DisorderPcna
Ataxia-Telangiectasia-Like Disorder 2Pcna
atherosclerosisHmgb1
autism spectrum disorderRfc2
autistic disorderRfc2
bilirubin metabolic disorderHmgb1
Bloom syndromeLig1
Brain InjuriesHmgb1
brain ischemiaPcna
Brain NeoplasmsPcna , Pms2
breast cancerMsh2 , Pms2
Breast Cancer, FamilialMlh3
breast carcinomaMlh3 , Msh2
Breast NeoplasmsExo1 , Pcna
Burkitt lymphomaPms2
BurnsHmgb1
Cafe-au-Lait SpotsPms2
CardiomegalyHmgb1
cerebral infarctionHmgb1
cervix uteri carcinoma in situMlh1 , Msh2
Chagas CardiomyopathyPcna
Chemical and Drug Induced Liver InjuryHmgb1
ChloracneRpa1
Chronic Allograft DysfunctionHmgb1
colitisMsh2
colon adenocarcinomaHmgb1 , Msh6
colon cancerMlh1 , Msh2 , Pms2 , Pold1
colon carcinomaMlh1 , Mlh3 , Msh2 , Pold1
Colonic NeoplasmsMlh1 , Pcna , Pms2 , Rfc1
colorectal cancerMlh1 , Mlh3 , Msh2 , Msh6 , Pold1
COLORECTAL CANCER 10 Pold1
colorectal carcinomaMsh3
Colorectal NeoplasmsExo1 , Mlh1 , Mlh3 , Msh2 , Msh6 , Pms1 , Pms2 , Pold1 , Pold3
congestive heart failureHmgb1
DeafnessPold1
dermatomyositisPms1
Developmental DisabilitiesMlh1
Diabetes Mellitus, Experimental Hmgb1
Digestive System NeoplasmsMsh3
Drug-Related Side Effects and Adverse ReactionsHmgb1
endometrial cancerMlh3 , Msh3 , Msh6
endometrial carcinomaMlh1 , Mlh3 , Msh3 , Msh6
Endometrial NeoplasmsMlh1 , Mlh3 , Msh2 , Msh3 , Msh6 , Pold1
EndotoxemiaHmgb1
Esophageal NeoplasmsMlh3
Experimental ArthritisHmgb1
Experimental Autoimmune MyocarditisHmgb1
Experimental NeoplasmsPcna
extrahepatic cholestasisHmgb1
familial adenomatous polyposisMsh3
familial adenomatous polyposis 4Msh3
FeverHmgb1
focal segmental glomerulosclerosisPcna
gastric adenocarcinomaMlh1
Gaucher's diseaseMsh6
Gaucher's disease type IMsh6
genetic diseaseMsh6
Germ Cell and Embryonal NeoplasmsMlh1 , Msh2 , Pcna
glioblastoma multiformeMsh2
Heat StrokeHmgb1
hepatoblastomaPcna
hepatocellular carcinomaExo1 , Pcna
hereditary breast ovarian cancer syndromeMlh1 , Pms1
Hereditary Neoplastic SyndromesMlh1 , Mlh3 , Msh2 , Msh6 , Pms2 , Pold1
hereditary nonpolyposis colorectal cancer type 2Mlh1
hereditary nonpolyposis colorectal cancer type 4Pms2
hereditary nonpolyposis colorectal cancer type 5Msh6
hereditary nonpolyposis colorectal cancer type 7Mlh3
Huntington's diseaseMsh2
Hydatidiform MoleMlh1 , Msh2
Hydatidiform Mole, InvasiveMsh2
hydrocephalusHmgb1
HyperalgesiaHmgb1
hypogonadismPold1
hypothyroidismPcna
InflammationHmgb1
inherited metabolic disorderLig1
intellectual disabilityMlh3
Intestinal Reperfusion InjuryHmgb1
Intimal HyperplasiaPcna
invasive ductal carcinomaPcna
ischemiaPcna
Jaw AbnormalitiesPold1
Kawasaki diseaseHmgb1
Knee OsteoarthritisHmgb1
leiomyomaPcna
leukoencephalopathy with vanishing white matterMlh3
leukostasisHmgb1
Lewy body dementiaPcna
lipodystrophyPold1
Liver InjuryPcna
Liver Reperfusion InjuryHmgb1
lung adenocarcinomaMlh1
lung carcinomaMlh1
Lung NeoplasmsPcna
Lung Reperfusion InjuryHmgb1
Lymphatic MetastasisHmgb1
lymphomaMlh1
Lynch syndromeMlh1 , Mlh3 , Msh2 , Msh6 , Pms1 , Pms2
Lynch syndrome 1Msh2 , Msh6 , Pms1
Macular Dystrophy, Concentric AnnularMsh6
malignant gliomaHmgb1
Mammary Neoplasms, ExperimentalPcna
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy SyndromePold1
methylmalonic aciduria and homocystinuria type cblCMsh6
Microsatellite InstabilityMsh3 , Msh6
middle cerebral artery infarctionHmgb1
mucositisPcna
Muir-Torre syndromeMlh1 , Msh2
Multiple AbnormalitiesPold1
Multiple Organ FailureHmgb1
Multiple Primary NeoplasmsMlh1
myocardial infarctionHmgb1
Myocardial IschemiaHmgb1
Myocardial Reperfusion InjuryHmgb1
NecrosisHmgb1
Neoplasm MetastasisMlh1 , Msh2 , Pcna , Pms2
nephroblastomaPcna
NeuralgiaHmgb1
obstructive jaundicePcna
osteoarthritisHmgb1
osteoporosisPcna
osteosarcomaRfc1
ovarian cancerMlh1 , Msh2 , Msh6 , Pms2
Ovarian NeoplasmsMlh1 , Msh2
Oxygen-Induced RetinopathyHmgb1
Painful NeuropathyHmgb1
pancreatic ductal carcinomaPms1
Pancreatitis, Experimental, Acute Hmgb1
papillary renal cell carcinomaMsh2
periodontitisHmgb1
Phyllodes TumorPcna
pituitary carcinomaPms2
pleomorphic xanthoastrocytomaPold2 , Rfc2
PolymyositisPms1
precursor lymphoblastic lymphoma/leukemiaPms2
Premature AgingHmgb1
primary immunodeficiency diseaseLig1
Primitive Neuroectodermal TumorsPms2
prostate cancerMsh2 , Pms2
Prostatic NeoplasmsMlh1 , Msh3 , Pms1
psoriasisPcna
pulmonary fibrosisHmgb1
pulmonary hypertensionHmgb1 , Pms2
Radiation Injuries, ExperimentalPcna
renal cell carcinomaMlh1 , Msh2 , Pcna
Reperfusion InjuryHmgb1
Retina Reperfusion InjuryHmgb1
rhabdomyosarcomaPms2
schizophreniaRfc2
sciatic neuropathyHmgb1 , Pcna
seminomaPcna
SepsisHmgb1
sigmoid colon cancerMsh2 , Msh6
skin diseaseSsbp1
Spinal Cord InjuriesHmgb1
sporadic breast cancerMlh1
Supratentorial NeoplasmsPms2
systemic sclerodermaHmgb1
Systemic VasculitisHmgb1
Testicular NeoplasmsPcna
transient cerebral ischemiaHmgb1 , Pcna
Tumor Predisposition SyndromeMlh1 , Msh2 , Msh6 , Pms2
Turcot SyndromeMlh1 , Msh2 , Msh6 , Pms2
urinary bladder cancerLig1 , Mlh1 , Msh2 , Pms2
Urogenital NeoplasmsMsh2
Uterine Cervical NeoplasmsMlh1 , Msh2
Ventilator-Induced Lung InjuryHmgb1
ventricular septal defectMlh3
visual epilepsyMsh2
Vulvar NeoplasmsMlh1 , Msh2
Pathway Annotations Associated with Genes in the mismatch repair pathway

References Associated with the mismatch repair pathway:

Ontology Path Diagram:

paths to the root

Import into Pathway Studio: