SFR1 (SWI5-Dependent Recombination Repair 1)
Key regulator of homologous recombination and DNA double-strand break repair
Gene Information Card
| Symbol | SFR1 |
|---|---|
| Full Name | SWI5-Dependent Recombination Repair 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 119467 ncbi.nlm.nih.gov/gene/119467 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q86XK3 |
| OMIM ID | 615584 |
| HGNC ID | 29020 |
| Aliases | C10orf76, bA342M3.1, SFR1 homolog |
Description
SFR1 encodes a protein involved in homologous recombination repair of DNA double-strand breaks. It forms a complex with SWI5 and RAD51, promoting strand exchange and repair. SFR1 is essential for genome stability and is implicated in cancer susceptibility and progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered SFR1 expression may disrupt homologous recombination, increasing genomic instability | COSMIC, ClinVar |
| Ovarian cancer | Somatic mutations and copy number alterations in SFR1 observed in tumor samples | COSMIC |
| Fanconi anemia-like phenotype | Defective DNA repair due to SFR1 loss-of-function variants | OMIM #615584 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Lymph node | 6.1 | Low |
| Brain | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.7 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical cancer cells |
| MCF7 | 6.2 | Breast cancer cells |
| K562 | 5.1 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Thr166Met) | Missense | 0.02% | Unknown functional impact |
| c.832_833del (p.Leu278fs) | Frameshift | Rare | Loss of function |
| c.1015G>A (p.Gly339Arg) | Missense | 0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to truncate the protein, impairing homologous recombination.
Gain of Function (GOF)
No gain-of-function mutations reported in SFR1.
Dominant Negative (DN)
Not described for SFR1.
View complete mutation data：
Gene Ontology (GO)
| • double-strand break repair via homologous recombination (GO:0000724) | • nucleus (GO:0005634) |
| • protein binding (GO:0005515) | • intracellular membrane-bounded organelle (GO:0043231) |
Pathways
• Homologous recombination (Reactome: R-HSA-5693568)
• DNA double-strand break repair (KEGG: hsa03440)
Protein Summary
SFR1 is a 299-amino acid nuclear protein that interacts with SWI5 and RAD51 to facilitate homologous recombination. It stabilizes the RAD51 filament and promotes strand exchange. SFR1 is highly expressed in testis and hematopoietic tissues, consistent with its role in meiotic and mitotic DNA repair.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SFR1 Knockout HEK293 Cell Line | EDJ-KQ7637 | Human | 119392 | Details Get a Quote |
| SFR1 Knockout HCT 116 Cell Line | EDJ-KQ32994 | Human | 119392 | Details Get a Quote |
| SFR1 Knockout HeLa Cell Line | EDJ-KQ32995 | Human | 119392 | Details Get a Quote |
| SFR1 Knockout A-549 Cell Line | EDJ-KQ66526 | Human | 119392 | Details Get a Quote |
