Mlh1 Gene Summary [Mouse]

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 DNA metabolic process; meiotic nuclear division; and regulation of nucleobase-containing compound 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, Jul 2025]

Details

Type
Nonsense Mediated Decay
Official Symbol
Mlh1
Official Name
mutL homolog 1 [Source:MGI Symbol;Acc:MGI:101938]
Ensembl ID
ENSMUSG00000032498
Bio databases IDs NCBI: 17350 Ensembl: ENSMUSG00000032498
Aliases mutL homolog 1
Synonyms 1110035C23Rik, AI317206, COCA2, FCC2, hMLH1, HNPCC, HNPCC2, LYNCH2, MMRCS1, mutL homolog 1
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Mlh1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • dimerization domain
  • Histidine kinase-like ATPase domain
  • DNA mismatch repair protein Mlh1 C-terminus
  • DNA mismatch repair protein, C-terminal domain
  • nuclear localization sequence
  • TopoII_MutL_Trans
  • enzyme binding
  • chromatin binding
  • enzyme
  • protein binding
  • enzyme activator activity
  • binding protein
  • single-stranded DNA binding
  • double-stranded DNA binding
  • DNA mismatch repair protein MutL

Pathways

Biological processes and signaling networks where the Mlh1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • metastasis
  • neoplasia
  • breast cancer
  • gastric cancer
  • hereditary nonpolyposis colorectal cancer type 2
  • Lynch syndrome
  • hereditary cancer-predisposing syndrome
  • epithelial cancer
  • epithelial neoplasia
  • cancer
regulated by
regulates
role in cell
  • proliferation
  • expression in
  • replication in
  • quantity
  • growth
  • apoptosis
  • cell death
  • activation in
  • formation
  • survival

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • ND10 structure
  • Cytoplasm
  • nuclear foci
  • chromosome
  • nucleoplasm
  • chromatin foci
  • synaptonemal complexes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Mlh1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • male meiosis chromosome segregation
  • spermatogenesis
  • resolution of meiotic recombination intermediates
  • positive regulation of isotype switching to IgG isotypes
  • DNA damage response, signal transduction resulting in induction of apoptosis
  • negative regulation of mitotic recombination
  • mismatch repair
  • double-strand break repair via nonhomologous end joining
  • synapsis
  • nuclear-transcribed mRNA poly(A) tail shortening
  • positive regulation of isotype switching to IgA isotypes
  • meiotic metaphase I plate congression
  • spindle midzone assembly involved in meiosis
  • meiotic telomere clustering
  • response to bacterium
  • oogenesis
  • female meiosis chromosome segregation
  • somatic hypermutation of immunoglobulin genes
  • isotype switching

Cellular Component

Where in the cell the gene product is active
  • chiasma
  • nucleus
  • late recombination nodule
  • membrane
  • MutLalpha complex
  • chromosome
  • synaptonemal complex
  • male germ cell nucleus
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • MutSalpha complex binding
  • ATPase activity
  • ATP binding
  • protein binding
  • chromatin binding
  • guanine/thymine mispair binding
  • enzyme binding
  • single-stranded DNA binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.