RAD54L

Last update 08 May 2025

Basic Info

Synonyms

DNA repair and recombination protein RAD54-like, hHR54, hRAD54

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Introduction

Plays an essential role in homologous recombination (HR) which is a major pathway for repairing DNA double-strand breaks (DSBs), single-stranded DNA (ssDNA) gaps, and stalled or collapsed replication forks (PubMed:11459989, PubMed:12205100, PubMed:24798879, PubMed:27264870, PubMed:32457312, PubMed:9774452). Acts as a molecular motor during the homology search and guides RAD51 ssDNA along a donor dsDNA thereby changing the homology search from the diffusion-based mechanism to a motor-guided mechanism. Also plays an essential role in RAD51-mediated synaptic complex formation which consists of three strands encased in a protein filament formed once homology is recognized. Once DNA strand exchange occured, dissociates RAD51 from nucleoprotein filaments formed on dsDNA (By similarity).

100 Clinical Results associated with RAD54L

100 Translational Medicine associated with RAD54L

0 Patents (Medical) associated with RAD54L

130

Literatures (Medical) associated with RAD54L

01 Feb 2025·Biological Trace Element Research

Modification Effects of Homologous Recombination Repair Gene Polymorphisms on the Associations Between Urinary Metals and Breast Cancer Risk

Article

Author: Han, Shushu ; Ren, Zefang ; Liu, Qiang ; Lu, Minjie ; Zhang, Yixin ; Xu, Lin ; Lin, Ying

Metals are recognized as important factors related to breast cancer (BC) risk. Homologous recombination repair (HRR) genes might modify the toxicity of metals by influencing the distribution and metabolism of metal compounds. This study aims to investigate the modification effects of single nucleotide polymorphisms (SNPs) in HRR genes on the associations between urinary metals and BC risk. A total of 685 BC cases and 741 controls were recruited from October 2009 to December 2012. Twenty-one metals were analyzed in urine samples using inductively coupled plasma mass spectrometry (ICP-MS), and three SNPs (LIG3 rs1052536, RFC1 rs6829064, and RAD54L rs17102086) were genotyped. We identified significant interactions between four metals and two SNPs on the risk of BC. For LIG3 rs1052536 C/T variant, participants with CT/TT genotypes exposed to higher cobalt (Co) levels had higher BC risk compared to those with CC genotype (P_interaction = 0.048). For RAD54L rs17102086 T/C variant, participants with TT genotype who were exposed to higher levels of zinc (Zn), Co, arsenic (As), and strontium (Sr) had more pronounced BC risk than the CC/TC genotypes (all P_interaction < 0.05). This study showed compelling evidence for the interaction between genetic variants within the HRR system and urinary metals on BC risk. Our findings highlight the need to consider genetic makeup when evaluating the carcinogenic or protective potential of metals.

01 Jan 2025·Obstetrics and Gynecology International

The Clinical Pathological Characteristics and Prognostic Relevance of Homologous Recombination Repair Gene Mutations in Ovarian Cancer Patients: A Prospective Cohort Study

Article

Author: Chen, Yanmin ; Huang, Lijuan ; Jia, Haoyi ; Tang, Min ; Zhou, Chongzhi ; Chen, Feng ; Zhan, Shitong ; Ma, Shaofei ; Chen, Lin ; Yang, Ye

Backgrouds: Whether homologous recombination repair (HRR) mutation has a differential effect on the prognosis has not been confirmed by current studies. The purpose of this study was to explore the clinical importance, prognostic value, and frequency of pathogenic changes in HRR genes in patients with ovarian cancer (OC).Methods: We analyze information including HRR mutation and clinical prognosis of OC patients both in our cohort and in the TCGA‐OV database. Blood and/or tumor samples from 98 women admitted to Shanghai General Hospital between January 2021 and May 2024, and DNA sequencing was performed on these samples for all patients included in this retrospective study. Testing was performed for HRR mutations, including germline BRCA1/2 mutations, and defects in HRR were defined as detrimental mutations within relevant genes. Comprehensive medical records were gathered for all patients, with a follow‐up period recorded for 74 of them.Results: HRR pathway genes, including BRCA1/2, CDK12, RAD54L, RAD51, ATM, MRE11, and BRIP2, are highly expressed in FIGO Stages I‐II OCs among 482 patients in the TCGA‐OV database, and 95.06% samples presented mutations. The alignment diagram analyzed by logistic and Cox regression was derived to investigate HRR genes on overall survival (OS < 763 days) of OC patients. A total of 98 patients were enrolled in our study, with 70 harboring HRR mutations (HRRmt) and 28 having the HRR wild‐type (HRRwt). The predominant pathological type across all four patient groups was high‐grade serous adenocarcinoma, with similar prevalence in HRRmt (84.30%) versus HRRwt (75%, p = 0.360) and BRCAmt (94.20%) versus BRCAwt (74.60%, p = 0.151) groups. Survival prediction data were collected from 74 patients, and the HRRmt group (n = 50) exhibited a numerically longer PFS compared to the HRRwt group (n = 24), with 23 months versus 17 months, respectively. A significant disparity was noted in the percentage of patients administered PARPi medication between the HRRmt and HRRwt groups (58.00% vs. 20.20%; p = 0.003). Patients in both the HRRmt group (p = 0.049) and the BRCAwt group (p = 0.046) receiving PARPi treatment have extended PFS. Significant differences were identified between HRRmt and HRRwt groups in the size of the initial debulking surgery achieving R0 status (p = 0.005), low CA125 levels (< 1000 U/mL) at diagnosis (p = 0.015), and the use of PARP inhibitors (PARPi) (p = 0.024) and antiangiogenic drugs (p < 0.001). For patients with HRR mutations, the use of PARPi significantly impacted PFS (p = 0.049), and achieving R0 status (p = 0.005) significantly influenced PFS.Conclusions: This study indicates that mutations in the HRR gene possess significant potential as a prognostic marker in OC. Our aim was to comprehensively explore how HRR gene mutations, including but not limited to BRCA, might influence the clinical course and survival of patients, shedding light on potential new avenues for personalized treatment strategies.

01 Dec 2024·International Immunopharmacology

KNTC1 functions as a potential biomarker and oncogene regulating proliferation, migration and apoptosis in gastric cancer

Article

Author: Dai, Xiaoshuo ; Chen, Yanan ; Duan, Xiaoxuan ; Li, Xiaoya ; Qi, Haoran ; Lu, Jing ; Wang, Yingfei ; Cao, Mengyuan

BACKGROUNDAs one of the most prevalent cancers, gastric cancer (GC) exhibits a remarkably high morbidity and mortality rate. To date, effective diagnostic and prognostic markers and therapeutic targets for GC are still lacking. Kinetochore associated 1 (KNTC1) is one of the proteins involved in chromosome segregation. However, the diagnostic and prognostic value of KNTC1 and its biological function in GC remain unknown.METHODSIn this study, Gene Expression Omnibus (GEO) datasets were utilized to identify differentially expressed genes (DEGs). Prognostic and diagnostic value were assessed by Kaplan-Meier plotter and receiver operating characteristic (ROC) curve. The expression of KNTC1 was verified by q-PCR, immunohistochemistry (IHC) and Western blotting. Subsequently, KNTC1 knockdown was employed to investigate its effect on GC cells. Gene set enrichment analysis (GSEA) revealed a pathway regulated by KNTC1, which was further verified by Western blotting.RESULTSFour highly expressed genes (ESPL1, RAD54L, KNTC1, TACC3) were identified as biomarkers for GC diagnosis and prognosis. Notably, the value of KNTC1 as a biomarker for GC was newly revealed. Single-cell and immune analyses revealed that KNTC1 contributed to the suppression of the GC immune microenvironment. In clinical samples, we demonstrated high expression of KNTC1 in GC tissues. KNTC1 knockdown suppressed proliferation and migration while promoting apoptosis of GC cells. Additionally, KNTC1 may affect GC cells by regulating the PI3K/Akt/mTOR pathway.CONCLUSIONSKNTC1 acts as a potential diagnostic and prognostic marker for GC. It may promote proliferation and migration while inhibiting apoptosis of GC cells via the PI3K/Akt/mTOR pathway.

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RAD54L

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