MSH4 Gene Summary [Human]
This gene encodes a member of the DNA mismatch repair mutS family. This member is a meiosis-specific protein that is not involved in DNA mismatch correction, but is required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis I. This protein and MSH5 form a heterodimer which binds uniquely to a Holliday Junction and its developmental progenitor, thus provoking ADP-ATP exchange, and stabilizing the interaction between parental chromosomes during meiosis double-stranded break repair. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | MSH4 |
| Official Name | mutS homolog 4 [Source:HGNC Symbol;Acc:HGNC:7327] |
| Ensembl ID | ENSG00000057468 |
| Bio databases IDs | |
| Aliases | mutS homolog 4 |
| Synonyms | 4930485C04Rik, ASG, LOC688159, mMsh4, mutS homolog 4, POF20, SPGF2 |
| 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 MSH4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATP-binding domain
- ATPase domain of DNA mismatch repair MUTS family
- MutS family domain IV
- enzyme
- MutS domain V
- MutS domain III
- helix-loop-helix domain
- protein binding
- MutS domain II
- P-loop containing Nucleoside Triphosphate Hydrolases
- DNA-binding domain of DNA mismatch repair MUTS family
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- premature ovarian failure 20
- familial premature ovarian failure
- cleft lip
- oligozoospermia
- spermatogenic failure 2
- spermatocyte maturation arrest
- azoospermia
- aspermatogenesis
regulates
- adenosine triphosphate
- ADP
role in cell
- number
- generation
- meiosis
- meiosis in
- synapsis 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
- Cytoplasm
- cytoplasmic aggregates
- chromosome
- nucleoplasm
- chromatin foci
- synaptonemal complexes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MSH4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- female gamete generation
- reciprocal meiotic recombination
- spermatogenesis
- mismatch repair
- synapsis
- ovarian follicle development
Cellular Component
Where in the cell the gene product is active
- nucleus
- recombination nodule
- chromosome
- synaptonemal complex
Molecular Function
What the gene product does at the molecular level
- DNA binding
- ATP binding
- protein binding
- double-stranded DNA binding
- mismatched DNA binding