mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)

Symbol

MLH1

Organism

Human

Description

This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]

Orthologs

SymbolSpecies
mlh-1 Caenorhabditis elegans
Mlh1 Drosophila melanogaster
mlh1 Danio rerio
Mlh1 Mus musculus
Mlh1 Rattus norvegicus
MLH1 Saccharomyces cerevisiae
mlh1 Schizosaccharomyces pombe

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA2014 Microsatellite instability in hematopoietic stem cells and progenitor cells Physiological hematopoietic stem cells Human MLH1 —

GO Terms

GO IDGO TermGO Category
GO:0000239 pachytene biological_process
GO:0000289 nuclear-transcribed mRNA poly(A) tail shortening biological_process
GO:0000712 resolution of meiotic recombination intermediates biological_process
GO:0001666 response to hypoxia biological_process
GO:0006200 ATP catabolic process biological_process
GO:0006298 mismatch repair biological_process
GO:0006303 double-strand break repair via nonhomologous end joining biological_process
GO:0007049 cell cycle biological_process
GO:0007060 male meiosis chromosome segregation biological_process
GO:0007131 reciprocal meiotic recombination biological_process
GO:0007283 spermatogenesis biological_process
GO:0008630 DNA damage response, signal transduction resulting in induction of apoptosis biological_process
GO:0009636 response to toxin biological_process
GO:0016446 somatic hypermutation of immunoglobulin genes biological_process
GO:0042493 response to drug biological_process
GO:0043060 meiotic metaphase I plate congression biological_process
GO:0045190 isotype switching biological_process
GO:0045950 negative regulation of mitotic recombination biological_process
GO:0048477 oogenesis biological_process
GO:0051257 spindle midzone assembly involved in meiosis biological_process
GO:0071407 cellular response to organic cyclic compound biological_process
GO:0000795 synaptonemal complex cellular_component
GO:0001673 male germ cell nucleus cellular_component
GO:0005634 nucleus cellular_component
GO:0005712 chiasma cellular_component
GO:0032389 MutLalpha complex cellular_component
GO:0032390 MutLbeta complex cellular_component
GO:0003697 single-stranded DNA binding molecular_function
GO:0005515 protein binding molecular_function
GO:0005524 ATP binding molecular_function
GO:0016887 ATPase activity molecular_function
GO:0030983 mismatched DNA binding molecular_function
GO:0032137 guanine/thymine mispair binding molecular_function
GO:0032407 MutSalpha complex binding molecular_function
GO:0043566 structure-specific DNA binding molecular_function