SLX1A Gene - Structure-Specific Endonuclease Subunit
SLX1A: A key regulator of DNA repair and genome stability
Gene Information Card
| Symbol | SLX1A |
|---|---|
| Full Name | SLX1 homolog A, structure-specific endonuclease subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 548593 ncbi.nlm.nih.gov/gene/548593 |
| Ensembl ID | ENSG00000197912 |
| UniProt ID | Q9BQ83 |
| OMIM ID | 613097 |
| HGNC ID | 28745 |
| Aliases | SLX1, GIYD1, FLJ12888 |
Description
SLX1A encodes a structure-specific endonuclease that, as part of the SLX1-SLX4 complex, resolves Holliday junctions and processes DNA repair intermediates. It plays a critical role in homologous recombination, DNA damage response, and maintenance of genome stability. Mutations or dysregulation of SLX1A are implicated in genomic instability and cancer susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia | SLX1A mutations impair DNA interstrand crosslink repair, leading to bone marrow failure and cancer predisposition | ClinVar, OMIM |
| Breast cancer | Altered SLX1A expression may contribute to defective homologous recombination and tumorigenesis | COSMIC, literature |
| Ovarian cancer | SLX1A copy number alterations and expression changes linked to genomic instability | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Lymph node | 6.1 | Low |
| Spleen | 5.4 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.5 | Low expression |
| MCF7 | 4.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon, predicted loss of function |
| c.502C>T (p.Arg168Trp) | Missense | <0.01% | Uncertain significance, may affect endonuclease activity |
| c.763_764del (p.Leu255fs) | Frameshift | <0.01% | Loss of function, associated with Fanconi anemia |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in SLX1A lead to truncated or absent protein, impairing Holliday junction resolution and DNA repair.
Gain of Function (GOF)
No gain-of-function mutations reported for SLX1A.
Dominant Negative (DN)
No dominant-negative mutations reported for SLX1A.
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 damage response
Protein Summary
SLX1A is a 305-amino acid protein containing a GIY-YIG endonuclease domain. It forms a complex with SLX4 to resolve Holliday junctions and process DNA repair intermediates. The protein is localized to the nucleus and is essential for maintaining genome stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLX1A Knockout HEK293 Cell Line | EDJ-KQ14573 | Human | 548593 | Details Get a Quote |
| SLX1A Knockout A-549 Cell Line | EDJ-KQ46086 | Human | 548593 | Details Get a Quote |
| SLX1A Knockout HCT 116 Cell Line | EDJ-KQ46088 | Human | 548593 | Details Get a Quote |
| SLX1A Knockout HeLa Cell Line | EDJ-KQ46089 | Human | 548593 | Details Get a Quote |
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