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Tbio
MLH1
DNA mismatch repair protein Mlh1

Protein Summary
Description
Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in c ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000231790
  • ENSP00000231790
  • ENSG00000076242
  • ENST00000435176
  • ENSP00000402564
  • ENST00000455445
  • ENSP00000398272
  • ENST00000458205
  • ENSP00000402667
  • ENST00000536378
  • ENSP00000444286
  • ENST00000539477
  • ENSP00000443665

Symbol
  • COCA2
  • FCC2
  • COCA2
  • HNPCC
  • hMLH1
  • HNPCC2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
disease perturbation
1
molecular function
0.99
kinase perturbation
0.93
protein domain
0.92
biological process
0.9


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 3137.03   (req: < 5)
Gene RIFs: 661   (req: <= 3)
Antibodies: 654   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 3137.03   (req: >= 5)
Gene RIFs: 661   (req: > 3)
Antibodies: 654   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 24
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (291)
PMS2
Tbio
Family:  Enzyme
Novelty:  0.00139084
p_int:  1
Score:  0.993
Data Source:  BioPlex,Reactome,STRINGDB
FAN1
Tbio
Family:  Enzyme
Novelty:  0.05719629
p_int:  1
Score:  0.906
Data Source:  BioPlex,STRINGDB
PMS1
Tbio
Family:  TF
Novelty:  0.00444827
p_int:  0.999999977
p_ni:  2.3e-8
Score:  0.969
Data Source:  BioPlex,STRINGDB
BRIP1
Tbio
Novelty:  0.03886334
p_int:  0.99999956
p_ni:  3.34e-7
p_wrong:  1.06e-7
Score:  0.961
Data Source:  BioPlex,STRINGDB
MLH3
Tbio
Novelty:  0.01295793
p_int:  0.997912905
p_ni:  2.67e-7
p_wrong:  0.002086829
Score:  0.972
Data Source:  BioPlex,Reactome,STRINGDB
MCM8
Tbio
Family:  Enzyme
Novelty:  0.02602136
p_int:  0.996713204
p_ni:  0.003286787
p_wrong:  9e-9
Score:  0.65
Data Source:  BioPlex,STRINGDB
MCM9
Tbio
Family:  Enzyme
Novelty:  0.0390791
p_int:  0.995345865
p_ni:  0.00430999
p_wrong:  0.000344145
Score:  0.687
Data Source:  BioPlex,STRINGDB
AMOT
Tbio
Novelty:  0.01269856
p_int:  0.945998977
p_ni:  0.054001023
Data Source:  BioPlex
RRAGB
Tbio
Novelty:  0.02279777
p_int:  0.76905945
p_ni:  0.230185227
p_wrong:  0.000755323
Data Source:  BioPlex
MSH6
Tbio
Family:  Epigenetic
Novelty:  0.00097439
Score:  0.999
Data Source:  Reactome,STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (34)
Cell Cycle (R-HSA-1640170)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 5 of 17
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Cell Cycle
Reactome
DNA Repair
Reactome
Defective Mismatch Repair Associated With MLH1
Reactome
Defective Mismatch Repair Associated With PMS2
Reactome
Disease
Name
Explore in Pharos
Explore in Source
Cell Cycle
DNA Repair
Defective Mismatch Repair Associated With MLH1
Defective Mismatch Repair Associated With PMS2
Disease
Viral Interactions (0)
No viral interactions found
Gene Ontology Terms (33)
Find Similar Targets
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Inferred from Electronic Annotation (IEA)
Ensembl
Disease Associations ()
No disease associations found
GWAS Traits (10)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
serum gamma-glutamyl transferase measurement
2
3
3
94
serum alanine aminotransferase measurement
2
2
1
5.6
75.4
1
1
0
1.1
69.8
high density lipoprotein cholesterol measurement
2
2
2
65.7
pulse pressure measurement
1
1
1
63.1
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
serum gamma-glutamyl transferase measurement
3
94
serum alanine aminotransferase measurement
1
5.6
75.4
0
1.1
69.8
high density lipoprotein cholesterol measurement
2
65.7
pulse pressure measurement
1
63.1
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (16)
1 – 5 of 16
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
mutL homolog 1
VGNC:2049
747104
Macaque
mutL homolog 1
698782
Mouse
MGI:101938
17350
Rat
RGD:620937
81685
Dog
mutL homolog 1
VGNC:43257
477019
Species
Name
OMA
EggNOG
Inparanoid
Chimp
mutL homolog 1
Macaque
mutL homolog 1
Mouse
Rat
Dog
mutL homolog 1
Publication Statistics
PubMed Score 3137.03
PubMed score by year
PubTator Score 2140.20
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title