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

Symbol	Species
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	—

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GO Terms

GO ID	GO Term	GO 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
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