Ask about this productRelated genes to: SFRS4 antibody
- Gene:
- SRSF4 NIH gene
- Name:
- serine and arginine rich splicing factor 4
- Previous symbol:
- SFRS4
- Synonyms:
- SRP75
- Chromosome:
- 1p35.3
- Locus Type:
- gene with protein product
- Date approved:
- 1993-09-17
- Date modifiied:
- 2016-06-06
Related products to: SFRS4 antibody
Related articles to: SFRS4 antibody
- The nonsense-mediated mRNA decay (NMD) pathway is a translation-dependent mechanism that maintains cellular RNA homeostasis by eliminating mRNAs containing a premature termination codon (PTC). NMD also targets ~ 15% of all physiological coding and non-coding spliced transcripts, thereby playing a significant role in shaping the cellular transcriptome. SMG5 is one of several NMD effector proteins required for the cleavage of mRNAs. In a female patient with craniofacial dysmorphism, developmental delay, severe growth retardation, and relative macrocephaly, we identified the homozygous synonymous variant c.2967G > A; p.Gln989 = in SMG5, affecting the last base of the penultimate exon. In patient fibroblasts, most of the SMG5 pre-mRNAs were aberrantly spliced, while a small proportion of canonically spliced SMG5 transcripts was found. Levels of SMG5 were reduced to ~ 25%. We identified a significant increase in the total protein amount and the size of the cell, Golgi apparatus, and nucleus in patient-derived fibroblasts. Cell proliferation was compromised, and the cell cycle was delayed. Patient fibroblasts showed global transcriptional dysregulation, with genes involved in nucleosome assembly and organization being upregulated and downregulated genes associated with differentiation, development, and morphogenesis. We found a global upregulation of NMD-sensitive transcripts, including a significant and experimentally validated increase in the relative abundance of naturally occurring PTC-containing transcripts of the splicing factor genes SRSF2, SRSF4, SRSF6, and SF3B3 in the patient’s fibroblasts. Together, our findings indicate that the homozygous synonymous SMG5 variant c.2967G > A acts as a hypomorphic allele, associated with mild inhibition of the NMD pathway and underlying the patient’s phenotype. - Source: PubMed
Publication date: 2026/02/27
Tibbe DeboraHolling TessSpohn MichaelAlawi MalikNampoothiri SheelaKutsche Kerstin - Liver rhythm has a significant effect on lipid metabolism and immune function in chickens. However, reports on its underlying mechanisms and key genes are relatively scarce. We collected liver samples at seven time points during one light/dark cycle and investigated the candidate genes and pathways related to hepatic rhythm through transcriptomic sequencing. Trend analysis revealed that the expression of genes in Profile 5 exhibited rhythmic fluctuations, and these genes (e.g., , , and ) were enriched in immune function and biological rhythm. The genes (e.g., , , and ) in Profile 2 that were related to lipid metabolism also exhibited a rhythmic trend. A total of 845 differentially expressed genes (e.g., and ) were detected between light/dark conditions. Lipid metabolism and immune functions showed the most changes between the two conditions. Immune-related processes (e.g., autophagy) were more active in the light phase, while in the dark phase, lipid metabolism (e.g., sterol biosynthesis) was more active. Weighted gene coexpression network analysis revealed that the tan (including , , and others) and cyan (including , , and others) modules were strongly associated with the hepatic circadian rhythm. Cosinor analysis revealed that 9 lipid-related genes (e.g., , , and ) and 11 immune-related genes (e.g., , , and ) exhibited significant rhythmic expression. These findings revealed rhythmic changes in hepatic immune and lipid metabolism, providing important insights into the regulation of disease resistance and lipid deposition in chickens. - Source: PubMed
Publication date: 2025/11/08
Li JiahuaDong JieHuang MinjieJin YutingTan XiaodongWang Deqian - 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 - During infection by positive-sense single-stranded RNA viruses, understanding the mechanisms governing the fate of viral RNA, whether directed towards translation, replication, or virion assembly, remains a significant challenge. In this study, we conducted RNA-interactome analysis using metabolic labeling coupled with quantitative proteomics to investigate the protein composition of temporal ribonucleoprotein complexes (RNPs) during enterovirus A71 (EV-A71) infection. Comparative analysis of RNPs during the early and late infection stages, representing the eclipse and maturation phases, revealed dynamic RNP remodeling over time. This remodeling process involved the exchange of nuclear RNA binding proteins with cytoplasmic membrane-associated proteins. Notably, EV-A71 infection induced the phosphorylation and cytoplasmic re-localization of nuclear serine and arginine-rich (SR) proteins, as determined using pan-SR protein antibodies, with these proteins found to co-localize with viral RNAs. Knockdown of specific SR proteins, including SRSF4, SRSF5, and SRSF6, significantly reduced viral growth, highlighting their critical role in the infection process. Intriguingly, these phosphorylated SR proteins cofractionated with the translation machinery rather than the replication organelles, a phenomenon predominantly observed during the early infection phase and abolished in the late phase. Importantly, inhibition of SR protein phosphorylation using the kinase inhibitors SRPKIN-1 and TG003 significantly impaired IRES-dependent translation and EV-A71 replication. These findings underscore the pivotal role of SR protein phosphoregulation during the eclipse phase of EV-A71 infection in facilitating the formation of translation-competent complexes. Furthermore, they highlight the potential of targeting SR protein phosphorylation as a promising strategy for antiviral development. - Source: PubMed
Publication date: 2025/06/16
Lee Kuo-MingWu Chih-ChingFan Yu-TingChiang Huan-JungLien Pei-YiWang Jui-PingHuang Yhu-CheringShih Shin-Ru - Pulmonary hypertension (PH) is a rare and fatal disease, the pathological changes of which include pulmonary arterial smooth muscle cell (PASMC) proliferation, which is the pathological basis of pulmonary vascular remodeling. Studies have demonstrated that chromatin-associated circRNA can regulate a variety of biological processes. However, the role of chromatin-associated circRNA in the proliferation of PH remains largely unexplored. In this study, we aimed to identify the function and mechanism of chromatin-associated circRNA in PASMC proliferation in PH. - Source: PubMed
Publication date: 2025/02/20
Song XinyueXu YaLi MengnanGuan XiaoyuLiu HuiyuZhang JingyaSun HanliangMa CuiZhang LixinZhao XijuanZheng XiaodongZhu Daling