Ask about this productRelated genes to: SNRPN antibody
- Gene:
- SNRPN NIH gene
- Name:
- small nuclear ribonucleoprotein polypeptide N
- Previous symbol:
- PWCR
- Synonyms:
- SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI
- Chromosome:
- 15q11.2
- Locus Type:
- gene with protein product
- Date approved:
- 1992-08-24
- Date modifiied:
- 2014-11-18
Related products to: SNRPN antibody
Related articles to: SNRPN antibody
- HSV ICP27, a multifunctional essential immediate early (IE) viral protein, regulates both viral and host pre-mRNA processing in a gene/sequence-specific manner. Using viral mutagenesis studies, we investigated the mechanisms underlying ICP27-mediated co-transcriptional splicing inhibition. We report that ICP27 inhibits pre-mRNA splicing by hijacking host serine/arginine-rich splicing factor 3 (SRSF3), which binds to an exonic ICP27/SRSF3-responsive motif near the 5' splice site of targeted transcripts, revealing that interaction with SRSF3 enhances both target specificity and efficiency of ICP27-mediated aberrant splicing, in a way independent of its RNA-binding RGG domain. Furthermore, ICP27 co-opts SRSF3 to promote nuclear-export of unspliced mRNA targets via the nuclear RNA export factor 1 (NXF1). Viruses with mutations both in the ICP27 N-terminal nuclear export signal (NES), via which ICP27 interacts with NXF1, and in the RGG RNA-binding domain, are defective in ICP27-mediated splicing inhibition, expression of ICP27-dependent genes, and viral growth, revealing that ICP27-mediated nuclear export of unspliced mRNA is indispensable for ICP27-mediated splicing inhibition and gene expression. Preventing U1 small nuclear ribonucleoprotein (U1 snRNP) binding by knockdown of U1-70K, a component of U1 snRNP that binds to the 5' splice site, led both to splicing inhibition and to enhanced expression of ICP27-dependent genes. Together, these results suggest a spatiotemporal role for ICP27 in regulating sequence-specific pre-mRNA splicing by hijacking SRSF3, preventing spliceosome formation, and subsequently promoting nuclear export of aberrantly processed mRNAs containing restrictive elements including intact 5' splice sites, which would otherwise be detained, spliced or degraded in the nucleus. We hypothesize that during latency, HSV likely takes advantage of the host mRNA processing machinery to restrict expression of randomly activated antigenic viral genes to achieve immune evasion when ICP27 is absent during latency. Upon reactivation, ICP27 is essential for ensuring both the quality and quantity of viral gene expression, enabling optimal viral replication. - Source: PubMed
Publication date: 2026/04/10
Tang ShuangPatel AmitaTakeda KazuyoPeden KeithKrause Philip R - CRISPR-Cas9 nucleases are widely used to introduce targeted DNA double-strand breaks (DSBs) for genome engineering, but the long-term impact of these lesions on local epigenetic information remains poorly characterized. In a companion research article, we used Cas9-assisted targeted nanopore sequencing (CTS) to reveal that CRISPR-Cas9-induced DSBs can disrupt local epigenetic maintenance across multiple genomic contexts and cell systems. Here, we present a structured description of the raw and minimally processed datasets underlying the study. These datasets provide base-resolution measurements of 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) at the differentially methylated regions (DMRs) of several imprinted loci, two heterochromatic regions, a cancer-associated promoter epimutation region, and the SNRPN DMR at early/late passages of a clonal line. They enable re-analysis and methodological benchmarking of DSB-associated epigenetic instability. - Source: PubMed
Publication date: 2026/03/10
Zhang YingziWang MenggeBi ChongweiLi Mo - Introns have expanded dramatically during evolution, and while their internal sequences have greatly diverged, the potential function of ultraconserved RNA motifs remains an important, unanswered question. Sharing the sequence with the utilized 5' splice sites (5'SSs), pseudo-5'SSs are widespread in introns but are never spliced. We searched homologous introns and identified eight ultraconserved pseudo-5'SSs (UCP-5'SSs). The most conserved one resides in the animal ENOX1/Enox genes that are involved in plasma membrane electron transport and cell enlargement. In vivo deletion of this 9-nt UCP-5'SS in Drosophila results in a significantly enlarged ovary and increased fecundity. We demonstrate that this UCP-5'SS is a silencer for alternative splicing (AS) regulation of an upstream ultraconserved essential exon through interaction with the U1 snRNP-core proteins. The AS changes are observed in all the tested Drosophila mutants from the dTOR and Insulin-like pathways. Remarkably, loss of this UCP-5'SS significantly mitigates the changes. Multiple-source human cells treated with the mTOR/Insulin pathway inhibitors also change the AS and specifically increase the translation of U1-70K, suggesting remarkable conservation of this mechanism. This study reveals an ultraconserved regulatory network in which a short intronic RNA element functions as a sensor of TOR-related pathways during ovarian development. - Source: PubMed
Publication date: 2026/03/09
Ding ZhanFang Zhuo-YaLi HaoJiang Xi-PingXie Yun-LongBian Wen-XiuWu Yan-TingLu Xiao-YiSong Bao-LiangFan Yu-JieXu Yong-Zhen - Prader-Willi (PWS) and Angelman (AS) syndromes were the first examples in humans with errors in genomic imprinting, usually from de novo 15q11-q13 deletions of different parent origin (paternal in PWS and maternal in AS). Dozens of genes and transcripts are found in the 15q11-q13 region, and may play a role in PWS, specifically paternally expressed and genes, while AS is due to the maternally expressed gene. These three causative genes, including their encoding proteins, were targeted. This review article summarizes and illustrates the current understanding and cause of both PWS and AS using strategies to include the literature sources of key words and searchable web-based programs with databases for integrated gene and protein interactions, biological processes, and molecular mechanisms available for the two imprinting disorders. The gene is key in developing complex spliceosomal snRNP assemblies required for mRNA processing, cellular events, splicing, and binding required for detailed protein production and variation, neurodevelopment, immunodeficiency, and cell migration. The gene is involved with the regulation of retrograde transport and promotion of endosomal assembly, oxytocin and reproduction, as well as circadian rhythm, transcriptional activity control, and appetite. The gene encodes a key enzyme for the ubiquitin protein degradation system, apoptosis, tumor suppression, cell adhesion, and targeting proteins for degradation, autophagy, signaling pathways, and circadian rhythm. PWS is characterized early with infantile hypotonia, a poor suck, and failure to thrive with hypogenitalism/hypogonadism. Later, growth and other hormone deficiencies, developmental delays, and behavioral problems are noted with hyperphagia and morbid obesity, if not externally controlled. AS is characterized by seizures, lack of speech, severe learning disabilities, inappropriate laughter, and ataxia. This review captures the clinical presentation, natural history, causes with genetics, mechanisms, and description of established laboratory testing for genetic confirmation of each disorder. Three separate searchable web-based programs and databases that included information from the updated literature and other sources were used to identify and examine integrated genetic findings with predicted gene and protein interactions, molecular mechanisms and functions, biological processes, pathways, and gene-disease associations for candidate or causative genes per disorder. The natural history, review of pathophysiology, clinical presentation, genetics, and genetic-phenotypic findings were described along with computational biology, molecular mechanisms, genetic testing approaches, and status for each disorder, management and treatment options, clinical trial experiences, and future strategies. Conclusions and limitations were discussed to improve understanding, clinical care, genetics, diagnostic protocols, therapeutic agents, and genetic counseling for those with these genomic imprinting disorders. - Source: PubMed
Publication date: 2026/01/27
Butler Merlin G - Cutaneous lupus erythematosus (CLE) can occur independently of lupus erythematosus. SLE, and its responsiveness to treatment, does not necessarily align with that of coexisting SLE. Extracellular vesicles (EVs) allow communication between cells and rapid delivery throughout the body. We hypothesized that EVs may support disease-specific inflammation in CLE and SLE patients. Plasma EVs from healthy controls (n = 5), CLE (n = 6), and dermatomyositis (n = 17) were purified by ultracentrifugation and size-exclusion chromatography, phenotyped by flow cytometry, and profiled by LC-MS/MS. Circulating EVs were mainly platelet-, endothelial-, and antigen-presenting cell-derived examples. CLE EVs harbored four proteins absent in the controls-mimecan, IFI27, fibulin-2, and snRNP B/B' (anti-Sm an-tigens)-and their cumulative number increased with SLEDAI. Relative to the controls, 18 proteins were upregulated and 15 downregulated in CLE EVs. The number of upregulated proteins showed a trend toward a correlation with SLEDAI (r = 0.79, = 0.06) but not with CLASI (r = 0.21). Among upregulated proteins, lysozyme C and hyaluronan-binding protein 2 tracked with cutaneous activity (CLASI r = 0.74 and r = 0.86) but not with systemic activity (SLEDAI r = 0.52 and r = 0.31). CLE plasma EVs were enriched in antigen-presenting cell markers and disease-related cargo, including anti-Sm antigens and proinflammatory proteins. Although overall protein diversity correlated primarily with systemic disease activity, a subset of proteins appeared to reflect cutaneous activity. - Source: PubMed
Publication date: 2025/12/23
Ogawa-Momohara MarikoBaniel AvitalKodali NileshHossein FazeliniaDing HuaLynn SpruceKleitsch JulianneDiaz DeAnnaVazquez ThomasWerth Victoria P