RECQL5: A Key Helicase in Genome Stability and Cancer
Comprehensive gene card for RECQL5, a member of the RecQ helicase family involved in DNA repair, replication, and transcription.
Gene Information Card
| Symbol | RECQL5 |
|---|---|
| Full Name | RecQ like helicase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 9400 ncbi.nlm.nih.gov/gene/9400 |
| Ensembl ID | ENSG00000108469 |
| UniProt ID | O94762 |
| OMIM ID | 603780 |
| HGNC ID | 9951 |
| Aliases | RECQ5, RecQ5, RecQ protein-like 5 |
Description
RECQL5 encodes a member of the RecQ family of DNA helicases, which are essential for maintaining genome stability. The protein unwinds DNA in a 3' to 5' direction and participates in homologous recombination, replication fork restart, and transcription regulation. RECQL5 interacts with RNA polymerase II and suppresses transcription-associated genomic instability. Loss of RECQL5 function is linked to increased cancer susceptibility and cellular senescence.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | RECQL5 loss-of-function mutations impair DNA repair, leading to genomic instability and tumorigenesis. | PMID: 23555315, COSMIC |
| Colorectal cancer | RECQL5 deficiency promotes replication stress and chromosomal aberrations. | PMID: 25686104, COSMIC |
| Bloom syndrome-like features | RECQL5 mutations may contribute to a Bloom syndrome-like phenotype with growth retardation and predisposition to cancer. | PMID: 17999360, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 7.1 | Low |
| Brain | 5.3 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| MCF7 | 9.4 | Breast cancer cell line |
| HCT116 | 8.7 | Colorectal cancer cell line |
| HEK293 | 7.3 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; truncation of helicase domain |
| c.567_568del (p.Glu190fs) | Frameshift | <0.1% | Loss of function; premature stop codon |
| c.2345A>G (p.Tyr782Cys) | Missense | <0.1% | Unknown; predicted damaging by SIFT |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in RECQL5 result in truncated proteins lacking helicase activity, impairing DNA repair and increasing genomic instability.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RECQL5.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by interfering with wild-type RECQL5 function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Homologous recombination (Reactome: R-HSA-5693571)
• Resolution of D-loop structures (Reactome: R-HSA-5693579)
• RecQ helicase pathway (KEGG: hsa03440)
Protein Summary
RECQL5 is a 991-amino acid protein with a conserved helicase domain and a unique C-terminal region that interacts with RNA polymerase II. It exhibits 3'-5' DNA helicase activity and is involved in resolving stalled replication forks, promoting homologous recombination, and suppressing transcription-associated DNA damage. RECQL5 localizes to the nucleus and is ubiquitously expressed, with highest levels in testis and bone marrow.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RECQL5 Knockout HEK293 Cell Line | EDJ-KQ2524 | Human | 9400 | Details Get a Quote |
| RECQL5 Knockout A-549 Cell Line | EDJ-KQ23140 | Human | 9400 | Details Get a Quote |
| RECQL5 Knockout HCT 116 Cell Line | EDJ-KQ23141 | Human | 9400 | Details Get a Quote |
| RECQL5 Knockout HeLa Cell Line | EDJ-KQ23142 | Human | 9400 | Details Get a Quote |
| Recql5 Knockout C2C12 Cell Line | EDJ-KZ427 | Mouse | 170472 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
