SLX1B: Structure-Specific Endonuclease Subunit SLX1B
A key regulator of DNA repair and genome stability
Gene Information Card
| Symbol | SLX1B |
|---|---|
| Full Name | SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae) |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 79008 ncbi.nlm.nih.gov/gene/79008 |
| Ensembl ID | ENSG00000161980 |
| UniProt ID | Q9BQ83 |
| OMIM ID | 613097 |
| HGNC ID | 28745 |
| Aliases | SLX1, GIYD2, FLJ12888 |
Description
SLX1B encodes a structure-specific endonuclease that, as part of the SLX1-SLX4 complex, resolves Holliday junctions and processes various DNA repair intermediates. It plays a critical role in homologous recombination, DNA repair, and maintenance of genome stability. The protein contains a GIY-YIG nuclease domain and is involved in the resolution of replication fork collapse and double-strand breaks.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi Anemia | SLX1B mutations impair DNA interstrand crosslink repair, leading to genomic instability and bone marrow failure. | ClinVar |
| Breast Cancer | Altered SLX1B expression may contribute to defective homologous recombination and tumorigenesis. | COSMIC |
| Bloom Syndrome | SLX1B dysfunction exacerbates sister chromatid exchange and genomic instability. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.3 | Low |
| Spleen | 6.1 | Low |
| Lymph Node | 5.4 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Moderate expression |
| HeLa | 7.2 | Low expression |
| K562 | 11.4 | Moderate expression |
| MCF7 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | 0.01% | Impaired nuclease activity |
| c.502_503del (p.Leu168fs) | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the GIY-YIG nuclease domain or cause premature truncation lead to loss of endonuclease activity, impairing DNA repair.
Gain of Function (GOF)
No gain-of-function mutations reported for SLX1B.
Dominant Negative (DN)
No dominant-negative mutations reported for SLX1B.
View complete mutation data：
Gene Ontology (GO)
| • endonuclease activity | • Holliday junction resolvase activity |
| • DNA binding | • nucleus |
| • DNA repair | • homologous recombination |
Pathways
• Homologous recombination
• Fanconi anemia pathway
• DNA double-strand break repair
Protein Summary
SLX1B is a 305-amino acid protein containing a GIY-YIG nuclease domain. It forms a complex with SLX4 to resolve Holliday junctions and process DNA repair intermediates. The protein is essential for maintaining genome stability and is implicated in cancer predisposition syndromes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLX1B Knockout HEK293 Cell Line | EDJ-KQ16628 | Human | 79008 | Details Get a Quote |
| SLX1B Knockout A-549 Cell Line | EDJ-KQ48282 | Human | 79008 | Details Get a Quote |
| SLX1B Knockout HCT 116 Cell Line | EDJ-KQ48283 | Human | 79008 | Details Get a Quote |
| SLX1B Knockout HeLa Cell Line | EDJ-KQ48284 | Human | 79008 | Details Get a Quote |
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