Slx4 Gene Summary [Mouse]
This gene encodes a protein containing a BTB (POZ) domain that comprises a subunit of structure-specific endonucleases. The encoded protein aids in the resolution of DNA secondary structures that arise during the processes of DNA repair and recombination. Knock out of this gene in mouse recapitulates the phenotype of the human disease Fanconi anemia, including blood cytopenia and susceptibility to genomic instability. [provided by RefSeq, Dec 2013]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | Slx4 |
| Official Name | SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:106299] |
| Ensembl ID | ENSMUSG00000039738 |
| Bio databases IDs | |
| Aliases | SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) |
| Synonyms | BTBD12, D16Bwg1016e, FANCP, KIAA1987, MUS312, RGD1566009, SLX4 structure-specific endonuclease subunit, SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) |
| Species | Mouse, Mus musculus |
| 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 mouse Slx4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SAP binding domain
- MUS312-MEI9 interaction-like region
- SLX1 binding domain
- UBZ domain
- Slx4 endonuclease
- Broad-Complex, Tramtrack and Bric a brac
- BTB_POZ
- BTB/POZ domain
- protein binding
- enzyme activator activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- cancer
- Fanconi anemia
- Fanconi anemia group P
- glioblastoma cancer
- familial ovarian cancer
- Fanconi anemia, group A
- metabolic syndrome X
- glioma cancer
- glioma formation
role in cell
- activation in
- apoptosis
- movement
- proliferation
- production in
- formation
- formation in
- survival
- morphology
- repair
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
- cell junction
- cytosol
- nucleoplasm
- telomeres
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Slx4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- DNA double-strand break processing involved in repair via single-strand annealing
- DNA replication
- double-strand break repair via homologous recombination
- nucleotide-excision repair
- resolution of meiotic recombination intermediates
- response to intra-S DNA damage checkpoint signal
- positive regulation of telomere maintenance
Cellular Component
Where in the cell the gene product is active
- chromosome, telomeric region
- Holliday junction resolvase complex
- ERCC4-ERCC1 complex
- cytosol
- cell junction
- chromatin
- Slx1-Slx4 complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- metal ion binding
- enzyme activator activity