Ask about this productRelated genes to: S100A3 Blocking Peptide
- Gene:
- S100A3 NIH gene
- Name:
- S100 calcium binding protein A3
- Previous symbol:
- S100E
- Synonyms:
- -
- Chromosome:
- 1q21.3
- Locus Type:
- gene with protein product
- Date approved:
- 1993-10-04
- Date modifiied:
- 2016-10-05
Related products to: S100A3 Blocking Peptide
Related articles to: S100A3 Blocking Peptide
- The prevalence of myopia is rising, with genetic and environmental factors playing key roles. Disruptions in circadian melatonin rhythms are also linked to refractive errors, though exact mechanisms remain unclear. Differential expression analysis on the GSE136701 dataset identified circadian-related genes. GSEA, GO, and KEGG analyses revealed key genes. To identify key genes, seven machine learning models were employed, and their performance was evaluated using ROC curve analysis. The correlation genes were further assessed. Concurrently, we performed a comprehensive analysis of immune infiltration and correlation pertaining to these pivotal genes. Additionally, potential target drugs were screened using the DSigDB database, and both protein-protein and molecular docking analyses were performed. To investigate the causal relationship between target genes and myopia, two-sample MR analysis was conducted. Finally, single-cell annotation and cell-cell communication analyses were carried out on the GSE235684 dataset. We preliminarily identified four circadian rhythm-related key genes: UTS2, BTBD9, S100A3, and LGALS9. We identified 8-Bromo-cAMP as the small molecule exhibiting the highest binding efficiency to BTBD9 and UTS2, with a docking binding energy of - 37.5 kcal/mol for the BTBD9-UTS2 complex and - 6.8 kcal/mol for the complex-small molecule interaction. The dynamics simulation analysis has further corroborated the dynamic stability of the UTS2-BTBD9 complex binding with 8-bromo-cAMP. Toxicological profiling of the selected small molecule 8-Bromo-cAMP was conducted using Protox-3.0 and ADMEtlab3.0. Additionally, Mendelian randomization analysis revealed a significant association between UTS2 and myopia, with an inverse variance weighted (IVW) P value of 0.013 (OR 0.532, 95% CI 0.323-0.877). Cochran's Q test revealed no significant heterogeneity in either MR-Egger (Q = 3.753, P = 0.289) or IVW (Q = 3.893, P = 0.421) estimates, supporting the use of fixed-effects models. - Source: PubMed
Publication date: 2026/01/05
Niu JiahaoLin JiaZhou XianmeiChen BowenHu YuanyuanTan QingqingBi HongshengLiao Xuan - Central centrifugal cicatricial alopecia (CCCA) is the most common form of primary scarring alopecia in women of African descent, typically characterized by progressive hair loss originating at the vertex of the scalp. Although genetic susceptibility has been implicated in the pathogenesis of CCCA, only 1 gene (PADI3, encoding peptidyl arginine deiminase 3) has been thus far associated with CCCA. This study aimed to broaden our understanding of the genetic basis of CCCA by analyzing whole-exome sequences from 75 patients with clinically and histologically confirmed CCCA. We identified 9 pathogenic heterozygous variants in PADI3, including, to our knowledge, 4 previously unreported missense variants, all predicted to disrupt protein function. Functional analyses revealed reduced expression, abnormal intracellular localization, and diminished enzymatic activity in cells transfected with constructs expressing the PADI3 variants. More interestingly, pathogenic variants were identified in 2 additional genes, S100A3 and TCHH, which encode the main substrates of PADI3, S100 calcium-binding protein A3 and trichohyalin. Both proteins play critical roles in hair shaft integrity. The S100A3 variant was found to cause reduced citrullination by PADI3, whereas TCHH variants altered intracellular localization and resulted in significantly reduced expression of the protein. These findings provide further insights into disease mechanisms and may inform future strategies for genetic testing and targeted therapies. - Source: PubMed
Publication date: 2025/11/14
Keller-Rosenthal NoySarig OferGiladi MosheMalovitski KirilRubinstein RotemHaitin YoniLarrondo JorgeLenzy YolandaDlova NcozaMcMichael AmySprecher Eli - Lung adenocarcinoma (LUAD) and osteoarthritis (OA) pose significant therapeutic challenges due to their invasive heterogeneity and limited treatment options. This study investigates PANoptosis-related genes in LUAD and OA to develop a prognostic risk model using bioinformatics and machine learning. We obtained gene expression data from TCGA, GEO, and MSigDB, then applied consensus clustering to stratify LUAD samples and identified PANoptosis-associated differentially expressed genes (DEGs). For OA, ssGSEA and WGCNA were used to pinpoint hub genes linked to PANoptosis. Functional enrichment analyses (GO/KEGG) revealed key pathways in both diseases. By intersecting LUAD DEGs and OA hub genes, we refined candidate genes using LASSO and Random Forest algorithms, ultimately selecting five key genes (S100A3, PFN2, DEFB1, TSPO, and KMO) for model construction. The prognostic model demonstrated robust predictive performance. Additionally, immune infiltration and mutational profiling in LUAD provided mechanistic insights for potential therapeutic strategies. Our findings highlight shared PANoptosis-related pathways in LUAD and OA, offering a novel framework for risk stratification and targeted therapy. - Source: PubMed
Publication date: 2025/11/08
Xiong HailinLiu JunjieZhang ShuyiGuo Xuli - The S100 family of proteins plays a pivotal role in the pathogenesis of lung diseases, including asthma, chronic obstructive pulmonary disease (COPD), cystic fibrosis, pulmonary arterial hypertension (PAH), pulmonary fibrosis, lung cancers, acute lung injury, acute respiratory distress syndrome, COVID-19, and lung transplantation. This review comprehensively examines the contributions of S100 proteins to the progression of these disorders, focusing on their potential as diagnostic and prognostic biomarkers, as well as therapeutic targets. S100A protein-mediated key molecular mechanisms that influence inflammation, airway remodeling, fibrosis, and tumorigenesis in the lungs are discussed. The importance of their normal function is evident from the observation that simultaneous mutations in S100A3 and S100A13 predispose individuals to early-onset pulmonary fibrosis, underscoring their critical role in lung health. Furthermore, sustained S100 protein elevation is explored in the context of long COVID, shedding light on its role in chronic inflammation. These proteins act as damage-associated molecular patterns (DAMPs), activating immune pathways via receptors like TLR4 and RAGE, thereby driving inflammation and immune cell recruitment. Notably, in lung transplantation, elevated levels of S100A8, S100A9, and S100A12 serve as early biomarkers of graft rejection and complications such as graft-vs.-host disease, which indicates their role in mediating immune responses and transplant outcomes. While promising, the clinical application of S100 proteins faces challenges, including disease-specific variability and the need for robust validation across diverse populations. This narrative review underscores the dual potential of S100 proteins as biomarkers and therapeutic targets in respiratory medicine while emphasizing the importance of overcoming current limitations through targeted research and clinical trials. - Source: PubMed
Publication date: 2025/10/14
Raveendran Vineesh VAlQattan SomayaAlMutairy Eid - : Pulmonary fibrosis is a major disease that leads to the progressive loss of lung function. The disease manifests early, resulting in type 2 respiratory failure. This is likely due to the bronchocentric fibrosis around the major airways, which causes airflow limitation. It affects approximately three million patients worldwide and has a poor prognosis. Skin fibroblasts isolated from patients offer valuable insights into understanding the disease mechanisms, identifying the genetic causes, and developing personalized therapies. However, the use of skin fibroblasts to study a disease that exclusively impacts the lungs is often questioned, particularly since lung fibrosis primarily affects the alveolar epithelium. : We report the reprogramming of skin fibroblasts from patients with an atypical early-onset form of lung fibrosis into induced pluripotent stem cells (iPSCs) and subsequently into alveolar epithelial cells. This was achieved using a Sendai virus approach. : We show that the reprogrammed cells carry mutations in the calcium-binding protein genes S100A3 and S100A13, leading to diminished protein expression, thus mimicking the patients' cells. Additionally, we demonstrate that the generated patient iPSCs exhibit aberrant calcium and mitochondrial functions. : Due to the lack of a suitable animal model that accurately resembles the human disease, generating patient lung cells from these iPSCs can provide a valuable "disease in a dish" model for studying the atypical form of inherited lung fibrosis. This condition is associated with mutations in the calcium-binding protein genes S100A3 and S100A13 aiding in the understanding of its pathogenesis. - Source: PubMed
Publication date: 2025/05/26
Al-Mutairy EidAl Qattan Somaya MImtiaz FaiqaAlAnazi AzizahInglis AngelaAl-Rabiah RanaAl-Hejailan Reem S