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Mlh1
Gene Detail
Symbol

Name
ID
Mlh1
mutL homolog 1 (E. coli)
MGI:101938
Synonyms
1110035C23Rik, colon cancer, nonpolyposis type 2
Feature Type
protein coding gene
Genetic Map
Chromosome 9
60.92 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr9:111228228-111271608 bp, - strand
From VEGA annotation of GRCm38

  43381 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:208  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: DNA mismatch repair protein, Mlh1 type
Gene Tree: Mlh1

Human
homologs
Human Homolog MLH1, mutL homolog 1
NCBI Gene ID 4292
neXtProt AC  NX_P40692
Human Synonyms  COCA2, FCC2, hMLH1, HNPCC, HNPCC2
Human Chr (Location)  3p21.3; chr3:36993350-37050846 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human MLH1
Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(6) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for targeted null mutations exhibit reduced pairing in meiotic prophase I and produce no mature germ cells. Mutants also display increased microsatellite instability and a predisposition for developing intestinal and other tumors.
 
Human Diseases Modeled Using Mouse Mlh1 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)
Interactions
Mlh1 interacts with 124 markers (Mir22, Mir29a, Mir33, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (55 annotations)
Process ATP catabolic process, cell cycle, ...
Component chiasma, chromosome, ...
Function ATPase activity, ATP binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (20 records)
Data Summary: Results (4)    Tissues (2)    Images (1)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 2
RT-PCR 2
cDNA source data(54)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(55) cDNA(54) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000031784 (Evidence)
Ensembl Gene ModelENSMUSG00000032498 (Evidence)
Entrez Gene17350 (Evidence)
UniGene486383
DFCITC1672190, TC1577324, TC1594658
DoTSDT.94219805, DT.99850998, DT.101140778, DT.490690
NIA Mouse Gene IndexU031377
Consensus CDS ProjectCCDS40784.1
International Mouse Knockout Project StatusMlh1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031784 VEGA Gene Model | MGI Sequence Detail 43381 C57BL/6J ±  kb
transcript OTTMUST00000078764 VEGA | MGI Sequence Detail 2572 Not Applicable 
polypeptide OTTMUSP00000041918 VEGA | MGI Sequence Detail 760 Not Applicable 

For the selected sequences
All sequences(70) RefSeq(16) UniProt(9)
Polymorphisms
SNPs within 2kb(407 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR014762 DNA mismatch repair, conserved site
InterPro IPR002099 DNA mismatch repair protein
InterPro IPR013507 DNA mismatch repair protein, C-terminal
InterPro IPR011186 DNA mismatch repair protein Mlh1
InterPro IPR003594 Histidine kinase-like ATPase, ATP-binding domain
InterPro IPR020568 Ribosomal protein S5 domain 2-type fold
InterPro IPR014721 Ribosomal protein S5 domain 2-type fold, subgroup
Protein Ontology PR:000010442 DNA mismatch repair protein Mlh1
References
(Earliest) J:17196 Bronner CE, et al., Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature. 1994 Mar 17;368(6468):258-61
(Latest) J:213861 Peng M, et al., Crosstalk between BRCA-Fanconi anemia and mismatch repair pathways prevents MSH2-dependent aberrant DNA damage responses. EMBO J. 2014 Aug 1;33(15):1698-712
All references(148)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-18771, MGI:1915937, MGI:2143018, MGI:2143023, MGI:2143094

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/11/2014
MGI 5.20
The Jackson Laboratory