Ask about this productRelated genes to: SGMS1 antibody
- Gene:
- SGMS1 NIH gene
- Name:
- sphingomyelin synthase 1
- Previous symbol:
- TMEM23
- Synonyms:
- MOB, MGC17342, SMS1
- Chromosome:
- 10q11.23
- Locus Type:
- gene with protein product
- Date approved:
- 2004-03-23
- Date modifiied:
- 2016-10-05
Related products to: SGMS1 antibody
Related articles to: SGMS1 antibody
- Altered ceramide accumulation contributes to skeletal muscle insulin resistance, but mechanisms underlying fibre-type-specific susceptibility remain unclear. We hypothesized that fibre-type-specific ceramide metabolism governs vulnerability to lipid-induced insulin resistance. Lipidomics and quantification of ceramide-pathway enzymes were performed in mouse skeletal muscles with distinct fibre-type composition (oxidative, mixed and glycolytic) from control-diet (n = 12) and high-fat-diet (HFD; n = 12) mice. In humans, lipidomics and enzyme profiling were done in vastus lateralis biopsies from 36 adults stratified into oxidative or glycolytic phenotypes; insulin sensitivity was determined by glucose tolerance testing. siRNA-mediated silencing of SGMS1 and SGMS2 followed by lipidomics probed sphingomyelin-ceramide cycling in human myoblasts. In mouse muscle, ceramide composition rather than total content, differed by fibre type: oxidative muscle was enriched in very-long-chain ceramides, whereas glycolytic and mixed muscles contained higher C18-ceramides, paralleled by fibre-type-specific expression of enzymes involved in de novo synthesis and sphingomyelin-ceramide cycling. HFD induced ceramide remodelling, with C18-ceramides accumulating in oxidative and mixed muscles and very-long-chain species decreasing in glycolytic muscle; among all assessed enzymes, only SGMS2 was significantly downregulated in oxidative muscle. In humans, an oxidative phenotype associated with higher very-long-chain ceramides and insulin sensitivity, whereas a glycolytic phenotype displayed higher C16-18 ceramides, higher SGMS1 and SMPD2 expression, and lower insulin sensitivity. Elastic net regression identified C16-18 ceramides and galactosylceramides as negative predictors of insulin sensitivity. SGMS2 silencing caused broader ceramide accumulation than SGMS1 silencing, supporting a central role for SGMS2-mediated sphingomyelin-ceramide cycling in limiting ceramide burden. - Source: PubMed
Publication date: 2026/02/16
Eurén TovaFlockhart MikaelStrmeň TimotejZhou XinHorwath OscarApró WilliamBlackwood Sarah JTischer DominikMoberg MarcusSteneberg PärEdlund HelenaKatz AbramChorell Elin - Neurodevelopmental disorders (NDDs) arise from disruptions in brain development, yet the underlying pathways remain incompletely understood. Here we demonstrate that genome-wide CRISPR knockout screens in mouse embryonic stem cells differentiating into neural lineages identify hundreds of essential genes, only a minority of which are currently implicated in NDDs. Dominant NDD genes were enriched for transcriptional regulators, whereas recessive NDD genes were predominantly involved in metabolic processes. Mouse models for eight genes (Eml1, Dusp26, Dynlrb2, Mta3, Peds1, Sgms1, Slitrk4 and Vamp3) revealed marked neuroanatomical abnormalities, including microcephaly in half of the cases. Focusing on PEDS1, a key enzyme in plasmalogen biosynthesis, we identified a bi-allelic variant in individuals with microcephaly, global developmental delay and congenital cataracts. In mice, Peds1 deficiency led to accelerated cell-cycle exit and impaired neuronal differentiation and migration. These pathways required for neural differentiation provide a genetic framework for discovering additional NDD genes. - Source: PubMed
Publication date: 2026/01/05
Amelan AlanaCollins Stephan CDamseh Nadirah SHamada NanakoSalim AhdDvir EladMonderer-Rothkoff GalyaHarel TamarNagata Koh-IchiYalcin BinnazShifman Sagiv - Chinese Simmental cattle serve as an important dual-purpose breed in sustainable livestock systems. Despite their economic value, the genetic architecture underlying milk-production traits in this breed under temperate conditions remains poorly characterized. In this study, we estimated genetic parameters and identified associated genomic loci for 9 milk-production traits in a Chinese Simmental population. Our dataset consisted of 17,556 test-day records from 1,788 cows (parities 1 to 3), including whole-genome sequencing data for 781 individuals. Using a random regression test-day model with Legendre polynomials, we estimated variance components, heritabilities, breeding values (EBVs), and genetic correlations between different DIM. Heritability estimates ranged from 0.09 (fat-to-protein ratio) to 0.52 (protein percentage), with intermediate values for fat percentage (0.28), lactose percentage (0.35), and total milk solids (0.35). Within-lactation genetic correlations varied by trait, ranging from -0.88 to 0.99, with the strongest correlations between adjacent DIM, which weakened as intervals widened. Genome-wide association analysis (using the mixed linear model in SLEMM version 0.90.1) and Bayesian fine-mapping analysis identified significant SNPs near known candidate genes (BOP1, MROH1, NEGR1). These analyses also revealed putative novel associations with CACNB4, MTHFD2L, and SGMS1. Overall, the results enhance our understanding of the genetic regulation of milk production and provide practical targets for genomic selection to improve dairy performance in dual-purpose breeding programs. - Source: PubMed
Publication date: 2025/12/18
Dong ChunxiaoMa PeipeiTang YongjieHan HaoqiChen SiqianYang JiaziSun ZhigangWang WeiYu YingLi Shengli - Atherosclerosis and aortic aneurysms are prevalent aortic disorders. Significantly, atherosclerosis frequently impacts the common carotid artery (CA), whereas aortic aneurysms typically involve the abdominal aorta (AA), indicating possible heterogeneity between CA and AA with an ambiguous underlying mechanism. Sphingolipids, a crucial branch of lipid metabolism, has increasingly garnered attention in vascular diseases by influencing the phenotypic regulation of vascular smooth muscle cells (VSMCs). Nevertheless, whether sphingolipids play a role in the heterogeneity between CA and AA and in disease susceptibility remains uncertain. - Source: PubMed
Publication date: 2025/12/10
Li BowenZhou KaixiangChen KunJiang ShuaiWang XichenGu ZhenghuiGu ChunhuHan YuehuLiu YonghongChang YaomingBao Junxiang - The effects of Lactiplantibacillus mudanjiangensis IYO1739 and Lactiplantibacillus plantarum IYO1653, isolated from Japanese post-fermented tea, and their type strains on skin cells were evaluated. The normal human epidermal keratinocyte (NHEK) cells were treated with each strain, and after 2 h, the cells were washed and the number of adhered bacteria was measured. L. mudanjiangensis showed high adhesion, while L. plantarum strains showed little adhesion. After washing, the cells were cultured in bacteria-free medium for an additional 4 h and 24 h, and the expression levels of genes related to maintaining skin health were evaluated. Cells treated with L. mudanjiangensis showed increased expression of hyaluronan synthases (HAS1 and HAS3), sphingomyelinases involved in ceramide synthesis (SGMS1 and SGMS2), sphingomyelin phosphodiesterase 1 (SMPD1), involucrin, and transglutaminase 1 (TGM1) genes. These effects were weak or absent in L. plantarum strains. In addition, the IYO1739 strain of L. mudanjiangensis was more effective than the type strain DSM28402T. Furthermore, IYO1739 grew faster in MRS broth than DSM28402T, and showed particularly good growth at 37 °C. In addition, the expression of skin-related genes was enhanced by even heat-killed bacteria. These results suggest that L. mudanjiangensis strains, especially IYO1739, are beneficial for maintaining healthy skin. - Source: PubMed
Publication date: 2025/11/17
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