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
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Genes in Pathway:

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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
Abnormalities, MultiplePold1
Acute Lung InjuryHmgb1
Acute-On-Chronic Liver FailureHmgb1
adenocarcinomaPcna
ADENOCARCINOMA OF STOMACHMlh1
Adenocarcinoma, ColonHmgb1
Adenomatous Polyposis ColiMsh3
Aging, PrematureHmgb1
Alzheimer's DiseaseHmgb1
amyotrophic lateral sclerosisHmgb1
Arsenic PoisoningSsbp1
Arthritis, ExperimentalHmgb1
ataxia telangiectasia like disorderPcna
ataxia-telangiectasia-like disorder 2Pcna
atherosclerosisHmgb1
Autism Spectrum DisorderRfc2
Bloom SyndromeLig1
Brain InjuriesHmgb1
Brain IschemiaPcna
Brain NeoplasmsPcna , Pms2
breast cancer, familialMlh3
breast carcinomaMlh3
Breast NeoplasmsExo1 , Mlh1 , Msh2 , Pcna , Pms2
BurnsHmgb1
Cafe-au-Lait SpotsPms2
Carcinoma, Ductal, BreastPcna
Carcinoma, HepatocellularPcna
Carcinoma, Renal CellMlh1 , Msh2 , Pcna
CardiomegalyHmgb1
Cerebral InfarctionHmgb1
cervical intraepithelial neoplasiaMlh1 , Msh2
Chagas CardiomyopathyPcna
Chemical and Drug Induced Liver InjuryHmgb1
ChloracneRpa1
Cholestasis, ExtrahepaticHmgb1
Chronic Allograft DysfunctionHmgb1
ColitisMsh2
colon cancerMlh1 , Mlh3 , Pold1
colon carcinomaMlh3 , Pold1
Colonic NeoplasmsMlh1 , Mlh3 , Pcna , Pms2 , Pold1 , Rfc1
colorectal cancerMlh3 , Msh2 , Msh6 , Pold1
COLORECTAL CANCER 10 Pold1
Colorectal Cancer, Hereditary Nonpolyposis, Type 1Mlh1 , Msh2 , Msh6 , Pms1 , Pms2
Colorectal Cancer, Hereditary Nonpolyposis, Type 4Pms2
Colorectal Cancer, Hereditary Nonpolyposis, Type 5Msh6
Colorectal Cancer, Hereditary Nonpolyposis, Type 7Mlh3
Colorectal NeoplasmsExo1 , Mlh1 , Mlh3 , Msh2 , Msh3 , Msh6 , Pms1 , Pms2 , Pold1 , Pold3
DeafnessPold1
dermatomyositisPms1
Developmental DisabilitiesMlh1
diabetes mellitus, experimentalHmgb1
Digestive System NeoplasmsMsh3
Disease Models, AnimalRfc4
Drug-Related Side Effects and Adverse ReactionsHmgb1
endometrial cancerMsh3
endometrial carcinomaMlh1 , Mlh3 , Msh3 , Msh6
Endometrial NeoplasmsMlh1 , Mlh3 , Msh2 , Msh3 , Msh6 , Pold1
EndotoxemiaHmgb1
Esophageal NeoplasmsMlh3
esophageal squamous cell carcinomaHmgb1
experimental autoimmune myocarditisHmgb1
familial adenomatous polyposis 4Msh3
FeverHmgb1
focal segmental glomerulosclerosisPcna
Gaucher DiseaseMsh6
gliomaHmgb1
Heart FailureHmgb1
Heart Septal Defects, VentricularMlh3
Heat StrokeHmgb1
hepatoblastomaPcna
hereditary nonpolyposis colorectal neoplasmMlh1 , Mlh3 , Msh2 , Msh6 , Pms1 , Pms2
Huntington's DiseaseMsh2
Hydatidiform MoleMlh1 , Msh2
Hydatidiform Mole, InvasiveMsh2
HydrocephalusHmgb1
HyperalgesiaHmgb1
HyperbilirubinemiaHmgb1
HypogonadismPold1
HypothyroidismPcna
Immunologic Deficiency SyndromesLig1
Infarction, Middle Cerebral ArteryHmgb1
InflammationHmgb1
inherited metabolic disorderLig1
Intestinal Reperfusion InjuryHmgb1
Intimal HyperplasiaPcna
IschemiaPcna
Jaundice, ObstructivePcna
Jaw AbnormalitiesPold1
LeiomyomaPcna
LeukoencephalopathiesMlh3
Lewy body dementiaPcna
LipodystrophyPold1
Liver InjuryPcna
Liver Reperfusion InjuryHmgb1
lung adenocarcinomaMlh1 , Msh3 , Msh6 , Rfc4
Lung NeoplasmsMlh1 , Pcna
Lung Reperfusion InjuryHmgb1
Lymphatic MetastasisHmgb1
lymphomaMlh1
Lynch Syndrome IIMlh1
Mammary Neoplasms, ExperimentalPcna
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy SyndromePold1
Microsatellite InstabilityMsh3 , Msh6
Mucocutaneous Lymph Node SyndromeHmgb1
MucositisPcna
Muir-Torre syndromeMlh1 , Msh2
Multiple Organ FailureHmgb1
Myocardial InfarctionHmgb1
Myocardial IschemiaHmgb1
Myocardial Reperfusion InjuryHmgb1
NecrosisHmgb1
Neoplasm MetastasisMlh1 , Msh2 , Pcna , Pms2
Neoplasms, ExperimentalPcna
Neoplasms, Germ Cell and EmbryonalMlh1 , Msh2 , Pcna
Neoplasms, Multiple PrimaryMlh1
Neoplastic Syndromes, HereditaryMlh1 , Mlh3 , Msh2 , Msh6 , Pms2 , Pold1
NeuralgiaHmgb1
Neuroectodermal Tumors, PrimitivePms2
Neuropathy, PainfulHmgb1
OsteoarthritisHmgb1
Osteoarthritis, KneeHmgb1
OsteoporosisPcna
OsteosarcomaRfc1
ovarian cancerMlh1 , Msh2 , Msh6
Ovarian NeoplasmsMlh1 , Msh2 , Msh6 , Pms2
Oxygen-Induced RetinopathyHmgb1
pancreatic ductal carcinomaPms1
Pancreatitis, Experimental, Acute Hmgb1
PeriodontitisHmgb1
Phyllodes TumorPcna
Pleomorphic Xanthoastrocytoma Pold2 , Rfc2
PolymyositisPms1
prostatic neoplasmsMlh1 , Msh2 , Msh3 , Pms2
psoriasisPcna
Pulmonary FibrosisHmgb1
pulmonary hypertensionHmgb1
Radiation Injuries, ExperimentalPcna
Reperfusion InjuryHmgb1
Retina Reperfusion InjuryHmgb1
RhabdomyosarcomaPms2
Sciatic NeuropathyHmgb1 , Pcna
Scleroderma, SystemicHmgb1
SeizuresMsh2
SeminomaPcna
SepsisHmgb1
Skin DiseasesSsbp1
Spinal Cord InjuriesHmgb1
supratentorial neoplasmsPms2
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
Vulvar NeoplasmsMlh1 , Msh2
Wilms tumorPcna
Pathway Annotations Associated with Genes in the mismatch repair pathway

References Associated with the mismatch repair pathway:

Ontology Path Diagram:

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