Ask about this productRelated genes to: EMG1 antibody
- Gene:
- EMG1 NIH gene
- Name:
- EMG1 N1-specific pseudouridine methyltransferase
- Previous symbol:
- -
- Synonyms:
- C2F, NEP1, Grcc2f
- Chromosome:
- 12p13.31
- Locus Type:
- gene with protein product
- Date approved:
- 2006-01-12
- Date modifiied:
- 2019-01-25
Related products to: EMG1 antibody
Related articles to: EMG1 antibody
- Healthy aging is a complex process influenced by genetic, environmental, and lifestyle factors. Although prior genetic studies have identified loci associated with longevity, replication has often been limited by strong non-genetic influences. To investigate the genetic contributors to healthy aging, we performed a genome-wide association study (GWAS) and pathway analyses in 597 Super Seniors-individuals aged ≥ 85 years with no history of cancer, cardiovascular disease, diabetes, dementia, or major pulmonary disease-compared to 420 mid-life population-based controls that represent the population before selection for survival from age-related disorders. Candidate variant analyses confirmed known associations at the APOE locus, where APOE4 carriers had reduced odds of healthy aging (P = 0.0025), with stronger effects in females (P = 8.82 × 10⁻). Several FOXO3 variants (rs10457180, rs13217795, rs2802292) showed nominal associations with increased odds of being a Super Senior, again primarily among females. The GWAS, conducted on 8 million imputed variants, identified no genome-wide significant variants; however, suggestive associations were observed at the EMG1/LPCAT3/C1S, AHI1, OR10P1, TRPC4, NR3C2, and IGFBP7 loci. The most significant locus, EMG1/LPCAT3/C1S, has been linked to red blood cell fatty acid levels, lipid homeostasis, atherosclerosis, and insulin resistance-processes relevant to healthy aging. Candidate pathway analyses identified significant enrichment after FDR correction in six key aging-related signaling pathways: PI3K-AKT (FDR = 0.0016), cellular senescence (FDR = 0.011), insulin (FDR = 0.012), autophagy (FDR = 0.017), p53 (FDR = 0.017), and mTOR (FDR = 0.027). Genome-wide pathway analysis further highlighted both known and novel genetic pathways influencing healthy aging. - Source: PubMed
Publication date: 2026/04/11
Hoque RawnakLeach StephenBrooks-Wilson Angela - Bladder cancer (BLCA) is one of the most common urological malignancies, entailing significant morbidity and mortality rates. A comprehensive understanding of the mechanisms driving bladder cancer initiation and development is required to devise improved treatment regimens. N6-methyladenosine (m6A) is the most prevalent internal RNA modification reported to regulate cancer metastasis. Here, the function of fat mass and obesity-associated protein (FTO), an m6A demethylase, was studied in bladder cancer by overexpressing or knocking down FTO, and the underlying mechanism of FTO in BLCA was explored using machine learning analysis, in vitro, and in vivo experiments. The FTO expression has been proven to be downregulated within bladder cancer, and it could exert a tumor-suppressive effect. Moreover, Gain- and loss-of-function experiments showed that FTO downregulation enhanced the proliferation, migration, and invasion of bladder cancer cells. Mechanistic studies revealed that FTO decreased EMG1 expression by demethylating EMG1 and reducing ribosome biosynthesis, thereby promoting bladder cancer cell proliferation, migration, and invasion and repressing tumor growth in vivo. This study has demonstrated the anti-tumor effect of FTO on bladder cancer development, making it a promising therapeutic target. - Source: PubMed
Publication date: 2026/04/08
Yao KunWang LongWang JinrongLiu JianyeLi ChaoHou WeibinWang BingzhiXiong WeiTan Jing - Neural crest cells contribute to craniofacial formation by differentiating into skeletogenic mesenchyme and neuro-glial lineages. Using Smart-seq2 single-cell transcriptomics, we show that mesenchymal fate commitment correlates specifically with the expression of rRNA-modifying and ribosome assembly factors, rather than structural ribosomal proteins. Notably, EMG1 and NHP2 introduce key post-transcriptional modifications into 18S rRNA, including m¹acp³ψ at U1248, which requires TSR3 for final maturation. Disrupting NHP2 or TSR3 in vitro and in vivo perturbs cranial neural crest differentiation; post-migratory temporal knockout of Polr1a or Polr1c also causes craniofacial malformations. These findings align with cell type-specific m¹acp³ψ levels during neural crest differentiation. Given the neural crest contribution to neuroblastoma, we analyze patient data to find that elevated ribosomal control and rRNA-modifying proteins predict poorer outcomes. Complementary experiments in neuroblastoma cell lines reveal functional roles for TSR3 and WDR74 in mesenchymal-like tumor states. Together, our results link rRNA modifications and ribosome assembly to fate decisions, suggesting ribosomal heterogeneity shapes both normal development and tumor progression. - Source: PubMed
Publication date: 2026/03/09
Poverennaya IrinaMurtazina AliiaLi LeiMaili LorenaSourada LukasMontano-Gutierrez Luis FernandoGalimullina RozalinaSteinschaden TobiasKaiser MarketaZikmund TomasGoralija AdnaGao TengAttina AuroreClara OrnellaBartenhagen ChristophErickson AlekGershtein YaakovChen ShiyuanPolaskova KristynaSterba JaroslavSemasch BettinaAnderson Emma RPrakash VarshaVincent TheresaArceo MariaKogner PerSchlisio SusanneKharchenko Peter VDavid AlexandreKaiser JozefFischer MatthiasSkoda JanTrainor Paul AChagin Andrei SAdameyko Igor - Non-Hispanic Black individuals are disproportionately affected by asthma and severe asthma exacerbations. To elucidate asthma pathogenesis, it is essential to understand the dysregulated gene expression patterns linked to asthma status. - Source: PubMed
Publication date: 2026/01/19
Wu BaojunYang MaoHu DongleiHochstadt SamanthaLee Bo HyunLanfear David EWitonsky JonathanStemmer PaulBurchard Esteban GZiv EladWilliams L Keoki - Chronic kidney disease (CKD) and osteoporosis (OP) frequently coexist, yet their shared molecular pathogenesis remains incompletely characterized. We sought to identify diagnostic gene signatures for CKD and OP through integrated bioinformatics analysis, developing machine learning-based predictive models and clinical nomograms. - Source: PubMed
Publication date: 2025/12/11
Liu DongXia YingWang HuiSun KaiqiangWang ShunminYu YapingDai Xiaojie