MSH3 Gene Summary [Human]
The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | MSH3 |
| Official Name | mutS homolog 3 [Source:HGNC Symbol;Acc:HGNC:7326] |
| Ensembl ID | ENSG00000113318 |
| Bio databases IDs | |
| Aliases | mutS homolog 3, Divergent upstream protein, Mismatch repair protein 1 |
| Synonyms | D13Em1, DUP, FAP4, LOC100046843, MRP1, mutS homolog 3, REP-1, Rep-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 MSH3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DNA mismatch repair protein MutS
- ATPase domain of DNA mismatch repair MUTS family
- enzyme binding
- enzyme
- MutS domain V
- protein binding
- centromeric DNA binding
- MutS domain II
- DNA binding
- MutS domain I
- damaged DNA binding
- single-stranded DNA binding
- double-stranded DNA binding
- MutS family domain IV
- MutS domain III
- P-loop containing Nucleoside Triphosphate Hydrolases
- DNA-binding domain of DNA mismatch repair MUTS family
Pathways
Biological processes and signaling networks where the MSH3 gene in human 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
- esophageal squamous cell carcinoma
- metastasis
- colorectal cancer
- gastric carcinoma
- neoplasia
- cancer
- MSH3-related attenuated familial adenomatous polyposis
- hereditary cancer-predisposing syndrome
- epithelial endometrial cancer
- epithelial uterine cancer
role in cell
- growth
- expression in
- survival
- proliferation
- apoptosis
- formation
- methotrexate sensitivity
- amplification in
- non-homologous end joining in
- homologous recombination repair in
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
- nucleoplasm
- replication fork
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MSH3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- somatic recombination of immunoglobulin gene segments
- DNA repair
- maintenance of DNA repeat elements
- positive regulation of helicase activity
- mismatch repair
- mitotic recombination
- negative regulation of DNA recombination
Cellular Component
Where in the cell the gene product is active
- nucleus
- membrane
- MutSbeta complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- dinucleotide repeat insertion binding
- protein homodimerization activity
- single guanine insertion binding
- double-stranded DNA binding
- single-stranded DNA binding
- ATP binding
- protein binding
- mismatched DNA binding
- dinucleotide insertion or deletion binding
- oxidized purine DNA binding
- guanine/thymine mispair binding
- enzyme binding