Mlh1 - mutL homolog 1 Gene

Mus musculus

Also known as 1110035C23Rik

Gene ID: 17350 | Gene type: protein coding

About Mlh1

Summary

Enables chromatin binding activity and guanine/thymine mispair binding activity. Involved in positive regulation of isotype switching to IgA isotypes and positive regulation of isotype switching to IgG isotypes. Acts upstream of or within several processes, including gamete generation; meiotic nuclear division; and nucleic acid metabolic process. Located in condensed nuclear chromosome and male germ cell nucleus. Part of MutLalpha complex. Is expressed in several structures, including central nervous system; endocrine gland; genitourinary system; oral epithelium; and respiratory system. Used to study Lynch syndrome. Human ortholog(s) of this gene implicated in Lynch syndrome (multiple); gastrointestinal system Cancer (multiple); lung cancer; mismatch repair Cancer syndrome; and sporadic breast Cancer. Orthologous to human MLH1 (mutL homolog 1). [provided by Alliance of Genome Resources, Apr 2022]

Mlh1 Products(2)

mRNA	Protein	Name
NM_001324522.1	NP_001311451.1	DNA mismatch repair protein Mlh1 isoform 2
NM_026810.2	NP_081086.2	DNA mismatch repair protein Mlh1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables chromatin binding	IDA IDA: Inferred from direct assay	14716311	MGI
enables guanine/thymine mispair binding	IGI IGI: Inferred from genetic interaction	16713580	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within DNA damage response	IGI IGI: Inferred from genetic interaction	9560238	MGI
acts upstream of or within DNA damage response	IMP IMP: Inferred from mutant phenotype	14562041	MGI
acts upstream of or within DNA repair	IMP IMP: Inferred from mutant phenotype	13679151	MGI
acts upstream of or within double-strand break repair via nonhomologous end joining	IMP IMP: Inferred from mutant phenotype	15084308	MGI
acts upstream of or within female meiosis chromosome segregation	IMP IMP: Inferred from mutant phenotype	25533956	MGI
acts upstream of or within homologous chromosome pairing at meiosis	IMP IMP: Inferred from mutant phenotype	8674118	MGI
acts upstream of or within homologous chromosome segregation	IMP IMP: Inferred from mutant phenotype	25533956	MGI
acts upstream of or within intrinsic apoptotic signaling pathway in response to DNA damage	IMP IMP: Inferred from mutant phenotype	14562041	MGI
acts upstream of or within isotype switching	IMP IMP: Inferred from mutant phenotype	12743174	MGI
acts upstream of or within leptotene	IMP IMP: Inferred from mutant phenotype	17010969	MGI
acts upstream of or within male meiosis chromosome segregation	IMP IMP: Inferred from mutant phenotype	25533956	MGI
acts upstream of or within male meiotic nuclear division	IMP IMP: Inferred from mutant phenotype	15467367	MGI
acts upstream of or within meiotic cell cycle	IDA IDA: Inferred from direct assay	12091911	MGI
acts upstream of or within meiotic chromosome segregation	IMP IMP: Inferred from mutant phenotype	12217320	MGI
acts upstream of or within meiotic metaphase I homologous chromosome alignment	IMP IMP: Inferred from mutant phenotype	10385520	MGI
acts upstream of or within meiotic spindle midzone assembly	IMP IMP: Inferred from mutant phenotype	10385520	MGI
acts upstream of or within meiotic telomere clustering	IMP IMP: Inferred from mutant phenotype	17010969	MGI
acts upstream of or within mismatch repair	IDA IDA: Inferred from direct assay	10747038	MGI
acts upstream of or within mismatch repair	IMP IMP: Inferred from mutant phenotype	8674118	MGI
acts upstream of or within negative regulation of mitotic recombination	IMP IMP: Inferred from mutant phenotype	15480418	MGI
acts upstream of or within nuclear-transcribed mRNA poly(A) tail shortening	IMP IMP: Inferred from mutant phenotype	11337385	MGI
acts upstream of or within oogenesis	IMP IMP: Inferred from mutant phenotype	8674118	MGI
involved in positive regulation of isotype switching to IgA isotypes	IMP IMP: Inferred from mutant phenotype	10430621	MGI
involved in positive regulation of isotype switching to IgG isotypes	IMP IMP: Inferred from mutant phenotype	10430621	MGI
acts upstream of or within reciprocal meiotic recombination	IMP IMP: Inferred from mutant phenotype	8673133	MGI
acts upstream of or within resolution of meiotic recombination intermediates	IMP IMP: Inferred from mutant phenotype	10385520	MGI
acts upstream of or within response to bacterium	IEP IEP: Inferred from expression pattern	23012479	MGI
acts upstream of or within somatic hypermutation of immunoglobulin genes	IMP IMP: Inferred from mutant phenotype	10092760	MGI
acts upstream of or within somatic recombination of immunoglobulin gene segments	IMP IMP: Inferred from mutant phenotype	11828012	MGI
acts upstream of or within somatic recombination of immunoglobulin genes involved in immune response	IGI IGI: Inferred from genetic interaction	12743174	MGI
acts upstream of or within spermatogenesis	IMP IMP: Inferred from mutant phenotype	8674118	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
part of MutLalpha complex	IDA IDA: Inferred from direct assay	16713580	MGI
located in chiasma	IDA IDA: Inferred from direct assay	17291760	MGI
located in chromosome	IDA IDA: Inferred from direct assay	11934988	MGI
located in condensed chromosome	IDA IDA: Inferred from direct assay	12091911	MGI
located in condensed chromosome	IMP IMP: Inferred from mutant phenotype	8673133	MGI
located in condensed nuclear chromosome	IDA IDA: Inferred from direct assay	18316482	MGI
located in late recombination nodule	IDA IDA: Inferred from direct assay	27760146	MGI
located in male germ cell nucleus	IDA IDA: Inferred from direct assay	17696610	MGI
located in synaptonemal complex	IDA IDA: Inferred from direct assay	15467367	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

DNA mismatch repair protein Mlh1

colon cancer, nonpolyposis type 2

mutL protein homolog 1

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08489	MLH1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS19146	Mlh1 Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS25637	Mlh1 Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Mlh1	NCBI	NCBI:4292

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