MSH5 Gene Summary [Human]
This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011]
Details
| Type | Protein Coding |
| Official Symbol | MSH5 |
| Official Name | mutS homolog 5 [Source:HGNC Symbol;Acc:HGNC:7328] |
| Ensembl ID | ENSG00000204410 |
| Bio databases IDs | |
| Aliases | mutS homolog 5 |
| Synonyms | G7, Mut5, MUTSH5, mutS homolog 5, NG23, POF13, SPGF74 |
| 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 MSH5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATPase domain of DNA mismatch repair MUTS family
- MutS family domain IV
- enzyme
- protein binding
- MutS domain V
- MutS domain III
- DNA-binding domain of DNA mismatch repair MUTS family
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- inguinal hernia
- depressive disorder
- non-small cell lung cancer
- systemic lupus erythematosus
- familial premature ovarian failure
- pervasive developmental disorder
- spermatogenic failure 74
- anxiety disorder
- premature ovarian failure 13
- spermatocyte maturation arrest
role in cell
- activation in
- apoptosis
- number
- survival
- accumulation in
- morphology
- lack
- generation
- meiosis
- abnormal morphology
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 foci
- nucleoplasm
- synaptonemal complexes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MSH5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chiasma assembly
- mismatch repair
Cellular Component
Where in the cell the gene product is active
- nucleus
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- double-stranded DNA binding
- mismatched DNA binding