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Last update 08 May 2025

RECQL1

Last update 08 May 2025

Basic Info

Synonyms

ATP-dependent DNA helicase Q1, DNA helicase, RecQ-like type 1, DNA-dependent ATPase Q1

+ [5]

Introduction

DNA helicase that plays a role in DNA damage repair and genome stability (PubMed:15886194, PubMed:35025765, PubMed:7527136, PubMed:7961977, PubMed:8056767). Exhibits a Mg(2+)- and ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction (PubMed:19151156, PubMed:35025765, PubMed:7527136, PubMed:8056767). Full-length protein unwinds forked DNA substrates, resolves Holliday junctions, and has DNA strand annealing activity (PubMed:19151156, PubMed:25831490). Plays a role in restoring regressed replication forks (PubMed:35025765). Required to restart stalled replication forks induced by abortive topoisomerase 1 and 2 lesions (PubMed:35025765). Does not unwind G-quadruplex DNA (PubMed:18426915). May play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens (PubMed:15886194, PubMed:7961977).

Drugs associated with RECQL1

targeting RECQL1 (Solasia Pharma)

Target

RECQL1

Mechanism

RECQL1 inhibitors

Active Org.

Solasia Pharma KK

Originator Org.

Solasia Pharma KK

Active Indication

Peritoneal Neoplasms

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with RECQL1

100 Translational Medicine associated with RECQL1

0 Patents (Medical) associated with RECQL1

661

Literatures (Medical) associated with RECQL1

01 Jun 2025·Cancer Letters

Analysis of germline-somatic mutational connections in colorectal cancer reveals differential tumorigenic patterns and a novel predictive marker for germline mutation carriers

Article

Author: Shu, Weiyang ; Yi, Xin ; Gao, Xuan ; Li, Yuan ; Sun, Tao ; Li, Mintao ; Zhang, Yan ; Lin, Xiangchun ; Xia, Xuefeng ; Guan, Yanfang ; Shi, Yanyan ; Jia, Jinzhu ; Peng, Wenying

Colorectal cancer (CRC) genetic testing of regions beyond clinical guidelines has revealed a substantial number of likely pathogenic germline mutations (GMs). It remains largely undetermined whether and how these GMs, typically located in non-mismatch repair (non-MMR) genes, are associated with the tumorigenesis of CRC. This study aimed to identify CRC-predisposing GMs among 93 cancer susceptibility genes and investigate their potential influences on CRC somatic mutational features. We secondarily aimed to investigate whether somatic ERBB2 amplification contributes to identifying GM carriers. This study incorporated a total of 3,240 Chinese CRC patients and 10,588 control individuals. CRC patients were subjected to paired tumor-normal sequencing with a 1,021-gene panel. A case-control analysis was conducted to profile the GM-associated CRC risk. A comprehensive germline-somatic association analysis was performed among 2,405 patients, with key findings subsequently validated in an independent 835-patient cohort and the TCGA CRC cohort. The case-control results supported CRC-predisposing effects of GMs in certain homologous recombination repair (HRR) and DNA damage checkpoint factor (CPF) genes, such as BRCA1/2, RecQ helicase genes, ATM, and CHEK2. HRR GMs were associated with an increased copy number alteration burden, more TP53 clonal mutations, and a higher probability of carrying somatic ERBB2 amplification. CPF GMs were inferred to have synergistic effects with ARID1A and KDM6A somatic mutations in CRC tumorigenesis. Among patients with onset age ≥55 years, stable microsatellites, and no cancer family history, ERBB2 amplification was significantly predictive of GM carriers. Our findings elucidate different germline tumorigenic patterns not driven by deficient MMR. Somatic ERBB2 amplification in CRC can serve as an indicator for germline genetic testing when traditional risk features are absent.

01 May 2025·Bioorganic & Medicinal Chemistry Letters

Discovery of novel WRN inhibitors for treating MSI-H colorectal cancers

Article

Author: Hwang, Jong Yeon ; An, Dongju ; Moon, Byul ; Go, Ahra ; Lee, Joo-Youn ; Park, Seulki ; Kim, Jung-Ae ; Kim, Jeong-Hoon ; Kim, Hyun Jin ; Kim, Jaehoon

The Werner protein, WRN, is a member of the RecQ helicase family implicated in genome maintenance. Several large-scale functional genomics screens have identified WRN as a synthetic lethal target in cancer cell lines with microsatellite instability-high (MSI-H). Accordingly, WRN is considered a potential therapeutic target in MSI-H cancers. HRO761, a non-covalent WRN inhibitor developed by Novartis, entered clinical trial for patients with MSI-H colorectal cancer (CRC). In this study, we investigated bioisosteric replacement of the hydroxyl pyrimidine residue of HRO761 with several bicyclic structures to obtain a novel chemical entity. In vitro ATPase and cell proliferation assays revealed two candidate chemicals that showed similar or better effects than HRO761. Additionally, an in vivo study demonstrated that KWR095, a newly synthesized WRN inhibitor, has significant anti-proliferative effects compared with vehicle.

17 Mar 2025·GENETICS

Functions of the Bloom syndrome helicase N-terminal intrinsically disordered region

Article

Author: Dewey, Evan B ; Bereda, Colleen C ; Sekelsky, Jeff ; Nasr, Mohamed A ; Chirasani, Venkat R

AbstractBloom syndrome helicase (Blm) is a RecQ family helicase involved in DNA repair, cell cycle progression, and development. Pathogenic variants in human BLM cause the autosomal recessive disorder Bloom Syndrome, characterized by predisposition to numerous types of cancer. Prior studies of Drosophila Blm mutants lacking helicase activity or protein have shown sensitivity to DNA damaging agents, defects in repairing DNA double-strand breaks (DSBs), female sterility, and improper segregation of chromosomes in meiosis. Blm orthologs have a well-conserved and highly structured RecQ helicase domain, but more than half of the protein, particularly in the N-terminus, is predicted to be intrinsically disordered. Because this region is poorly conserved across metazoa, we compared closely related species to identify regions of conservation that might be associated with important functions. We deleted 2 Drosophila-conserved regions in Drosophila melanogaster using CRISPR/Cas9 gene editing and assessed the effects on several Blm functions. Each deletion had distinct effects. Deletion of either conserved region 1 (CR1) or CR2 compromised DSB repair through synthesis-dependent strand annealing and resulted in increased mitotic crossovers. In contrast, CR2 is critical for embryonic development, but CR1 is less important. Loss of CR1 leads to defects in meiotic crossover designation and patterning but does not impact meiotic chromosome segregation, whereas deletion of CR2 does not result in significant meiotic defects. Thus, while the 2 regions have overlapping functions, there are distinct roles facilitated by each. These results provide novel insights into functions of the N-terminal region of Blm helicase.

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RECQL1

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