RECQL Gene: RecQ Like Helicase
A key DNA helicase in genome stability, linked to aging and cancer predisposition.
Gene Information Card
| Symbol | RECQL |
|---|---|
| Full Name | RecQ Like Helicase |
| Gene Type | Protein coding |
| Chromosomal Location | 12p12.1 |
| NCBI Gene ID | 5965 ncbi.nlm.nih.gov/gene/5965 |
| Ensembl ID | ENSG00000100012 |
| UniProt ID | P46063 |
| OMIM ID | 600537 |
| HGNC ID | 9948 |
| Aliases | RECQ1, RECQL1, DNA helicase Q1-like |
Description
RECQL encodes a member of the RecQ family of DNA helicases, which are essential for maintaining genomic stability. The protein unwinds DNA in a 3' to 5' direction and participates in DNA replication, repair, recombination, and telomere maintenance. Mutations in RECQL are associated with a predisposition to breast cancer and other cancers, as well as features of premature aging.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss-of-function mutations impair DNA repair, increasing genomic instability and cancer risk. | ClinVar, COSMIC |
| Colorectal cancer | RECQL deficiency leads to defective replication fork restart and increased mutation rates. | COSMIC, NCBI |
| Premature aging syndromes | Impaired helicase activity accelerates cellular senescence and telomere dysfunction. | OMIM, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Medium |
| Lymph node | 7.1 | Medium |
| Brain | 4.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| MCF7 | 9.5 | Breast cancer cell line |
| HCT116 | 8.9 | Colorectal cancer cell line |
| HEK293 | 7.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1667_1668insA | Frameshift | Rare | Loss of function, associated with breast cancer |
| c.634C>T (p.Arg212*) | Nonsense | Rare | Premature stop, loss of helicase activity |
| c.1090C>T (p.Arg364Trp) | Missense | <0.01% | Reduced ATPase activity, impaired DNA repair |
Mutation functional classification
Loss of Function (LOF)
Most RECQL mutations are loss-of-function, leading to defective DNA repair and genomic instability.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RECQL.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by interfering with wild-type helicase function.
View complete mutation data：
Gene Ontology (GO)
| • DNA helicase activity | • ATP binding |
| • DNA repair | • telomere maintenance |
| • chromosome segregation |
Pathways
• Homologous recombination
• Fanconi anemia pathway
• DNA replication stress response
Protein Summary
RECQL is a 649-amino acid DNA helicase that unwinds DNA duplexes and resolves G-quadruplex structures. It interacts with proteins such as BRCA1, RAD51, and TOP3A to facilitate replication fork progression and double-strand break repair. The protein is localized to the nucleus and is highly expressed in tissues with rapid cell division.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RECQL5 Knockout HEK293 Cell Line | EDJ-KQ2524 | Human | 9400 | Details Get a Quote |
| RECQL Knockout HEK293 Cell Line | EDJ-KQ3698 | Human | 5965 | Details Get a Quote |
| RECQL4 Knockout HEK293 Cell Line | EDJ-KQ5913 | Human | 9401 | 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 |
| RECQL Knockout A-549 Cell Line | EDJ-KQ25713 | Human | 5965 | Details Get a Quote |
| RECQL Knockout HCT 116 Cell Line | EDJ-KQ25714 | Human | 5965 | Details Get a Quote |
| RECQL Knockout HeLa Cell Line | EDJ-KQ25715 | Human | 5965 | Details Get a Quote |
| RECQL4 Knockout A-549 Cell Line | EDJ-KQ30784 | Human | 9401 | Details Get a Quote |
| RECQL4 Knockout HCT 116 Cell Line | EDJ-KQ30786 | Human | 9401 | Details Get a Quote |
| RECQL4 Knockout HeLa Cell Line | EDJ-KQ30787 | Human | 9401 | Details Get a Quote |
| Recql5 Knockout C2C12 Cell Line | EDJ-KZ427 | Mouse | 170472 | Details Get a Quote |
| RECQL4 (p.R1005Q) Point Mutation in HAP1 Cell Line | EDC03372 | Human | 9401 | Details Get a Quote |
| RECQL4 (p.E267D) Point Mutation in HAP1 Cell Line | EDC03376 | Human | 9401 | Details Get a Quote |
Displaying Records 1 To 15 Of 23 Records
