Ask about this productRelated genes to: UBLCP1 antibody
- Gene:
- UBLCP1 NIH gene
- Name:
- ubiquitin like domain containing CTD phosphatase 1
- Previous symbol:
- -
- Synonyms:
- MGC10067, CPUB1
- Chromosome:
- 5q33.3
- Locus Type:
- gene with protein product
- Date approved:
- 2005-07-20
- Date modifiied:
- 2015-12-01
Related products to: UBLCP1 antibody
Related articles to: UBLCP1 antibody
- Retinoblastoma (RB) is the most prevalent malignant tumor that originates within the eye in children, occurring at a frequency of around 1:20,000 to 1:15,000. RB typically occurs when both alleles of the retinoblastoma 1 (RB1) gene are deactivated. RB is associated with variations in the tumor suppressor gene RB1 and is inherited in an autosomal recessive manner, operating at the genetic level. Variation in RB1 occurs only when two alleles of the RB1 gene are mutated. The mechanism by which immune cells mediate RB1 to affect RB is still unclear. Using two-sample Mendelian randomization (MR) analysis based on published genome-wide association study (GWAS) summary statistics, we investigated the relationship between immune cells and RB1 proteins. Our goal was to understand their potential role in the development of RB in offspring. The analysis of alterations in RB tissue cells and potential molecular mechanisms was conducted using single-cell RNA sequencing data. The research revealed the presence of 28 immune cells linked with RB1. These variables might potentially impact the likelihood of RB in children by altering the expression of the RB1 gene in their parents. Furthermore, we found differential gene expression in different cells of the RB tissue. EZH2, UBLCP1, and HKDC1 overlapped with the identified instrumental variables (IVs) of immune cells to investigate potential molecular mechanisms by which immune cells participate in RB processes. - Source: PubMed
Publication date: 2026/04/09
Hu XinyangLi JingqiuLi JinhongChen WenxuanZhang HaiboLi DanZhu MingPang LiangFan SiqiYangzong SuolangDeji CirenLiu Dongwei - Excessive daytime sleepiness (EDS), influenced by environmental and social-behavioral factors, is reported by a subset of patients with sleep apnea-a group that may be at elevated cardiovascular risk. However, it is unclear whether sleep apnea with and without EDS have distinct genetic underpinnings. In this study, we perform gene-by-EDS interaction analyses for apnea hypopnea index, a diagnostic marker of sleep apnea severity, to understand EDS's influence on its underlying genetic risk. - Source: PubMed
Nagarajan PavithraKurniansyah NuzululLee JiwonGharib Sina AXu YushanZhang YiyanSpitzer BrianFaquih TariqZhou HufengBoerwinkle EricChen HanGottlieb Daniel JGuo XiuqingHeard-Costa Nancy LHidalgo Bertha ALevy DanielLiu Peter YMei HaoMontalvan RebeccaMukherjee SutapaNorth Kari EO'Connor George TPalmer Lyle JPatel Sanjay RPsaty Bruce MPurcell Shaun MRaffield Laura MRich Stephen SRotter Jerome ISaxena RichaSmith Albert VStone Katie LZhu Xiaofeng Cade Brian ESofer TamarRedline SusanWang Heming - The mitochondrion is proposed as an ideal target organelle for the control of apicomplexan parasites, whose integrity depends on well-controlled protein import, folding, and turnover. The ubiquitin-like domain-containing C-terminal domain phosphatase 1 (UBLCP1) was found to be associated with the mitochondrial integrity in Toxoplasma gondii. However, little is known about the roles and mechanisms of UBLCP1 in this apicomplexan parasite. - Source: PubMed
Publication date: 2025/03/28
Sheng KaiyinSong KaiyueYang YiminWu HaiyanDu ZhendongChen XueqiuYang YiMa GuangxuDu Aifang - In the field of treatment and prevention of immune-related bone diseases, significant challenges persist, necessitating the urgent exploration of new and effective treatment methods. However, most existing Mendelian randomization (MR) studies are confined to a single analytical approach, which limits the comprehensive understanding of the pathogenesis and potential therapeutic targets of these diseases. In light of this, we propose the hypothesis that genetic variations in specific plasma proteins have a causal relationship with immune-related bone diseases through the MR mechanism, and that key therapeutic targets can be accurately identified using an integrated multi-omic analysis approach. This study comprehensively applied a variety of analytical methods. Firstly, the protein quantitative trait locus (pQTLs) data from two large plasma protein databases and the Genome-Wide Association Study (GWAS) data of nine immune-related bone diseases were used for Mendelian randomization (MR) analysis. At the same time, we employed the Summary-based Mendelian Randomization (SMR) method, combined with the Bayesian colocalization analysis method of coding genes, as well as the Linkage Disequilibrium Score Regression (LDSC) analysis method based on genetic correlation analysis, as methods to verify the genetic association between genes and complex diseases, thus comprehensively obtaining positive results. In addition, a Phenome-wide Association Study (PheWAS) was conducted on significantly positive genes, and their expression patterns in different tissues were also explored. Subsequently, we integrated Protein-Protein Interaction (PPI) network analysis, Gene Ontology (GO) analysis. Finally, based on the above analytical methods, drug prediction and molecular docking studies were carried out with the aim of accurately identifying key therapeutic targets. Through a comprehensive analysis using four methods, namely the Mendelian randomization (MR) analysis study, Summary-based Mendelian Randomization (SMR) analysis study, Bayesian colocalization analysis study, and Linkage Disequilibrium Score Regression (LDSC) analysis study. We found that through MR, SMR, and combined with Bayesian colocalization analysis, an association was found between rheumatoid arthritis (RA) and HDGF. Using the combination of MR and Bayesian colocalization analysis, as well as LDSC analysis, it was concluded that RA was related to CCL19 and TNFRSF14. Based on the methods of MR and Bayesian colocalization, an association was found between GPT and Crohn's disease-related arthritis, and associations were found between BTN1A1, EVI5, OGA, TNFRSF14 and multiple sclerosis (MS), and associations were found between ICAM5, CCDC50, IL17RD, UBLCP1 and psoriatic arthritis (PsA). Specifically, in the MR analysis of RA, HDGF (P_ivw = 0.0338, OR = 1.0373, 95%CI = 1.0028-1.0730), CCL19 (P_ivw = 0.0004, OR = 0.3885, 95%CI = 0.2299-0.6566), TNFRSF14 (P_ivw = 0.0007, OR = 0.6947, 95%CI = 0.5634-0.8566); in the MR analysis of MS, BTN1A1 (P_ivw = 0.0000, OR = 0.6101, 95%CI = 0.4813-0.7733), EVI5 (P_ivw = 0.0000, OR = 0.3032, 95%CI = 0.1981-0.4642), OGA (P_ivw = 0.0005, OR = 0.4599, 95%CI = 0.2966-0.7131), TNFRSF14 (P_ivw = 0.0002, OR = 0.4026, 95%CI = 0.2505-0.6471); in the MR analysis of PsA, ICAM5 (P_ivw = 0.0281, OR = 1.1742, 95%CI = 1.0174-1.3552), CCDC50 (P_ivw = 0.0092, OR = 0.7359, 95%CI = 0.5843-0.9269), IL17RD (P_ivw = 0.0006, OR = 0.7887, 95%CI = 0.6886-0.9034), UBLCP1 (P_ivw = 0.0021, OR = 0.6901, 95%CI = 0.5448-0.8741); in the MR analysis of Crohn's disease-related arthritis, GPT (P_ivw = 0.0006, OR = 0.0057, 95%CI = 0.0003-0.1111). In the Bayesian colocalization analysis of RA, HDGF (H4 = 0.8426), CCL19 (H4 = 0.9762), TNFRSF14 (H4 = 0.8016); in the Bayesian colocalization analysis of MS, BTN1A1 (H4 = 0.7660), EVI5 (H4 = 0.9800), OGA (H4 = 0.8569), TNFRSF14 (H4 = 0.8904); in the Bayesian colocalization analysis of PsA, ICAM5 (H4 = 0.9476), CCDC50 (H4 = 0.9091), IL17RD (H4 = 0.9301), UBLCP1 (H4 = 0.8862); in the Bayesian colocalization analysis of Crohn's disease-related arthritis, GPT (H4 = 0.8126). In the SMR analysis of RA, HDGF (p_SMR = 0.0338, p_HEIDI = 0.0628). In the LDSC analysis of RA, CCL19 (P = 0.0000), TNFRSF14 (P = 0.0258). By comprehensively analyzing plasma proteomic and transcriptomic data, we successfully identified key therapeutic targets for various clinical subtypes of immune-associated bone diseases. Our findings indicate that the significant positive genes associated with RA include HDGF, CCL19, and TNFRSF14; the positive gene linked to Crohn-related arthropathy is GPT; for MS, the positive genes are BTN1A1, EVI5, OGA, and TNFRSF14; and for PsA, the positive genes are ICAM5, CCDC50, IL17RD, and UBLCP1. Through this comprehensive analytical approach, we have screened potential therapeutic targets for different clinical subtypes of immune-related bone diseases. This research not only enhances our understanding of the pathogenesis of these conditions but also provides a solid theoretical foundation for subsequent drug development and clinical treatment, with the potential to yield significant advancements in the management of patients with immune-related bone diseases. - Source: PubMed
Publication date: 2025/03/27
Yang WeiLiu ChenglinLi ZhenhuaCui Miao - Amyotrophic lateral sclerosis damages proteostasis, affecting spinal and upper motor neurons earlier than a subset of cranial motor neurons. To aid disease understanding, we exposed induced cranial and spinal motor neurons (iCrMNs and iSpMNs) to proteotoxic stress, under which iCrMNs showed superior survival, quantifying the transcriptome and proteome for >8,200 genes at 0, 12, and 36 h. Two-thirds of the proteome showed cell-type differences. iSpMN-enriched proteins related to DNA/RNA metabolism, and iCrMN-enriched proteins acted in the endoplasmic reticulum (ER)/ER chaperone complex, tRNA aminoacylation, mitochondria, and the plasma/synaptic membrane, suggesting that iCrMNs expressed higher levels of proteins supporting proteostasis and neuronal function. When investigating the increased proteasome levels in iCrMNs, we showed that the activity of the 26S proteasome, but not of the 20S proteasome, was higher in iCrMNs than in iSpMNs, even after a stress-induced decrease. We identified Ublcp1 as an iCrMN-specific regulator of the nuclear 26S activity. - Source: PubMed
Publication date: 2024/03/07
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