RAD54L Gene - RAD54-Like DNA Repair Protein
Key player in homologous recombination and DNA double-strand break repair
Gene Information Card
| Symbol | RAD54L |
|---|---|
| Full Name | RAD54-like (S. cerevisiae) |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.1 |
| NCBI Gene ID | 8438 ncbi.nlm.nih.gov/gene/8438 |
| Ensembl ID | ENSG00000197275 |
| UniProt ID | Q92698 |
| OMIM ID | 603615 |
| HGNC ID | 9826 |
| Aliases | hRAD54, RAD54A, HR54 |
Description
RAD54L encodes a protein involved in homologous recombination and DNA double-strand break repair. The protein is a member of the SWI2/SNF2 family of chromatin remodeling ATPases and interacts with RAD51 to promote strand exchange during recombination. It is essential for genome stability and is implicated in cancer susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Defective homologous recombination due to RAD54L mutations increases genomic instability | PMID: 10615125, COSMIC |
| Colorectal cancer | Loss of RAD54L expression correlates with microsatellite instability | PMID: 11595797 |
| Fanconi anemia | RAD54L interacts with FANCD2 in DNA repair pathways | PMID: 12504013 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Medium |
| Lymph node | 6.1 | Low |
| Brain | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| MCF7 | 7.2 | Breast cancer cell line |
| HCT116 | 6.5 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1516C>T (p.Arg506*) | Nonsense | <1% | Loss of function; truncation |
| c.2071A>G (p.Lys691Glu) | Missense | <0.5% | Unknown significance |
| c.1066-1G>A | Splice site | <0.1% | Splicing defect; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or cause nonsense-mediated decay, impairing homologous recombination.
Gain of Function (GOF)
Not reported; no activating mutations documented.
Dominant Negative (DN)
Missense mutations in the ATPase domain may interfere with wild-type RAD54L function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding (GO:0003677) | • ATP binding (GO:0005524) |
| • DNA helicase activity (GO:0003678) | • homologous recombination (GO:0032508) |
| • double-strand break repair (GO:0006302) | • chromatin remodeling (GO:0006338) |
Pathways
• Homologous recombination (KEGG: hsa03440)
• Fanconi anemia pathway (KEGG: hsa03460)
• DNA double-strand break repair (Reactome: R-HSA-5693532)
Protein Summary
RAD54L is a 747-amino acid ATP-dependent DNA helicase that belongs to the SWI2/SNF2 family. It forms a complex with RAD51 to facilitate homologous pairing and strand exchange during homologous recombination. The protein also exhibits chromatin remodeling activity, enabling access to damaged DNA. RAD54L is essential for maintaining genomic integrity and its dysfunction is linked to cancer predisposition.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAD54L Knockout HEK293 Cell Line | EDJ-KQ2613 | Human | 8438 | Details Get a Quote |
| RAD54L2 Knockout HEK293 Cell Line | EDJ-KQ7846 | Human | 23132 | Details Get a Quote |
| RAD54L Knockout HCT 116 Cell Line | EDJ-KQ21966 | Human | 8438 | Details Get a Quote |
| RAD54L Knockout A-549 Cell Line | EDJ-KQ23334 | Human | 8438 | Details Get a Quote |
| RAD54L Knockout HeLa Cell Line | EDJ-KQ23335 | Human | 8438 | Details Get a Quote |
| RAD54L2 Knockout A-549 Cell Line | EDJ-KQ33399 | Human | 23132 | Details Get a Quote |
| RAD54L2 Knockout HCT 116 Cell Line | EDJ-KQ33400 | Human | 23132 | Details Get a Quote |
| RAD54L2 Knockout HeLa Cell Line | EDJ-KQ33401 | Human | 23132 | Details Get a Quote |
