Ask about this productRelated genes to: PSMG1 antibody
- Gene:
- PSMG1 NIH gene
- Name:
- proteasome assembly chaperone 1
- Previous symbol:
- DSCR2
- Synonyms:
- c21-LRP, LRPC21, PAC1
- Chromosome:
- 21q22.2
- Locus Type:
- gene with protein product
- Date approved:
- 1999-09-17
- Date modifiied:
- 2016-10-05
Related products to: PSMG1 antibody
Related articles to: PSMG1 antibody
- The proteasome assembly chaperone () gene family (comprised of , , , and ) plays a critical role in proteasome biogenesis; however, its involvement in breast cancer remains poorly understood. Among these chaperones, is uniquely and markedly elevated in breast cancer and is associated with poor clinical outcomes. We systematically investigated the roles of family genes in breast cancer by integrating multi-cohort genomic and transcriptomic datasets, including TCGA-BRCA, METABRIC, and multiple NCBI GEO cohorts. Comprehensive bioinformatics analyses were performed using bulk RNA sequencing and single-cell RNA sequencing data. A gene set enrichment analysis (GSEA) and immune infiltration analyses (CIBERSORT and TIMER) were applied to characterize dysregulated biological pathways, tumor microenvironmental features, and clinical relevance. In addition, molecular docking analyses were conducted to assess the druggability and binding potential of PSMG family proteins with selected small-molecule inhibitors. Elevated PSMG3 expression was consistently associated with poor survival outcomes across multiple breast cancer cohorts. Functional enrichment analyses revealed that PSMG3-high tumors were characterized by activation of hypoxia-related signaling pathways and dysregulated fatty acid metabolism, suggesting a role for PSMG3 in metabolic reprogramming. Immune deconvolution analyses further demonstrated significant correlations between PSMG3 expression and distinct immune cell populations within the tumor microenvironment. These findings were supported by single-cell transcriptomic profiling, which revealed subtype-specific expression patterns of PSMG3 in malignant epithelial cell populations. This integrative multi-omics analysis identified PSMG3 as a clinically relevant proteasome assembly chaperone associated with aggressive breast cancer phenotypes, metabolic dysregulation, and tumor immune contexture. Collectively, these results highlight PSMG3 as a promising prognostic biomarker and potential therapeutic target in breast cancer. - Source: PubMed
Publication date: 2026/02/18
Kumar SachinTa Hoang Dang KhoaYang Hao-ChienShih Chia-LungSolomon Dahlak DanielKo Ching-ChungXuan Do Thi MinhLee Yung-KuoChang Kai-FuLin Hui-RuKao Shu-HueiChuang Jian-YingChen Jian-BinWang Chih-YangNguyen Ngoc Uyen Nhi - Understanding the genetic foundations of dementia is critical to unraveling its complex molecular basis. Given that a clinical diagnosis of Alzheimer's disease (AD) dementia often results from interplay between multiple underlying neuropathologic co-morbidities, previous genome-wide association studies (GWAS) of clinically diagnosed AD are restricted in their ability to translate genetic associations to potential targeted therapeutics. The current study seeks to address these limitations by presenting the largest GWAS to date (n=12,509) of neuropathologic hallmarks of AD and AD related dementias (ADRDs). We further performed a candidate-variant analysis using loci previously identified in GWAS of clinically diagnosed AD dementia and Parkinson's disease (PD). Finally, we conducted heritability and genetic correlation analyses using linkage disequilibrium (LD) score regression. We found broad genome-wide significant associations with across AD and ADRDs but not cerebrovascular disease and vascular brain injury. We further identified 12 significant loci across 10 neuropathologic phenotypes, including 5 loci previously implicated in GWAS of clinical AD and ADRDs (variants on and ) and 7 novel genome-wide associations (variants on and ). Our analysis of AD and PD clinical candidate variants demonstrated several that were associated with AD neuropathologic change and Lewy body disease, as well as substantial overlap with neuropathologic lesions other than the primary neuropathologic hallmarks of these diseases. Heritability analyses demonstrated heritability that was high for amyloid plaques (78%) relative to prior clinical AD heritability analyses, intermediate for TDP-43 inclusions (41%), and low for remaining AD and ADRD pathologic features. This study underscores the importance of investigating the underlying neuropathologic hallmarks of AD and ADRDs as a step toward refining the translation of genetic associations to biomarker interpretation and development of targeted therapeutics. - Source: PubMed
Publication date: 2026/01/23
Cholerton BrennaGodrich DanaPasteris JeremyRivero JoeMartin Eden RKunkle Brian WNaj Adam CHamilton-Nelson Kara LWang HuiLee Wan-PingDumitrescu LoganHohman Timothy JMayeux RichardLarson Eric BCrane Paul KKeene C DirkLatimer Caitlin SMukherjee ShubhabrataKofler Julia KKamboh M IlyasBennett David AMolina-Porcel LauraCuccaro MichaelPericak-Vance Margaret ARundek TatjanaScott William KKukull WalterSchellenberg Gerard Beecham Gary WMontine Thomas J - Dementia is a common disease influenced by both genetic and environmental factors. ε4 is well-known to increase risk of dementia, and it has been shown to attenuate the protective association of fish oil supplements (FOS) and the incidence of dementia. - Source: PubMed
Publication date: 2025/08/05
Lu YueqiXu HuifangSun YitangIhejirika Susan AdannaChiang Charleston WkDarst Burcu FSong SuhangShen YeYe Kaixiong - Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), are genetically complex and often linked to structural genomic variations such as copy number variants (CNVs). Current diagnostic strategies face challenges in interpreting the clinical significance of such variants. - Source: PubMed
Publication date: 2025/07/24
Rincic MartinaBrecevic LukrecijaLiehr ThomasGotovac Jercic KristinaDoder InesBorovecki Fran - Latest research on ankylosing spondylitis (AS) indicates a link between the B3GNT2, PSMG1 genes and susceptibility to AS among western populations. However, the association of these three genes with AS in eastern populations remains insufficiently explored. It is necessary to replicate these studies in other populations. Consequently, we chose tagSNPs in these three genes in the Chinese Han population to be sequenced. - Source: PubMed
Lian ZijianZhao BinLuo WeiLiu JunWang JingChai WeiWang YanYe SongqingMa Xinlong