MLH3 Gene Summary [Human]
This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MLH3 |
| Official Name | mutL homolog 3 [Source:HGNC Symbol;Acc:HGNC:7128] |
| Ensembl ID | ENSG00000119684 |
| Bio databases IDs | |
| Aliases | mutL homolog 3 |
| Synonyms | HNPCC7, mutL homolog 3 |
| Species | Human, Homo sapiens |
| Orthologies |
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 human MLH3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- MutL C terminal dimerisation domain
- satellite DNA binding
- MutL C terminal dimerization domain
- Histidine kinase-like ATPase domain
- DNA mismatch repair protein, C-terminal domain
- TopoII_MutL_Trans
- chromatin binding
- protein binding
- centromeric DNA binding
- DNA mismatch repair protein MutL
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- epithelial cancer
- ovarian cancer
- hereditary nonpolyposis colorectal cancer type 7
- Lynch syndrome
- epithelial endometrial cancer
- epithelial uterine cancer
- endometrial cancer
- uterine cancer
- pelvic cancer
role in cell
- formation
- DNA damage response
- meiosis I
- meiosis
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
- chromosome
- nucleoplasm
- synaptonemal complexes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MLH3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- reciprocal meiotic recombination
- male meiosis
- synaptonemal complex assembly
- protein localization
- female meiosis I
- mismatch repair
Cellular Component
Where in the cell the gene product is active
- chiasma
- nucleus
- mismatch repair complex
- synaptonemal complex
- nucleoplasm
- male germ cell nucleus
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding
- chromatin binding
- mismatched DNA binding
- centromeric DNA binding
- satellite DNA binding