Ask about this productRelated genes to: SNIP1 antibody
- Gene:
- SNIP1 NIH gene
- Name:
- Smad nuclear interacting protein 1
- Previous symbol:
- -
- Synonyms:
- PML1
- Chromosome:
- 1p34.3
- Locus Type:
- gene with protein product
- Date approved:
- 2005-06-06
- Date modifiied:
- 2017-02-21
Related products to: SNIP1 antibody
Related articles to: SNIP1 antibody
- Splicing Factor 3b Subunit 1 (SF3B1), a core component of the spliceosome, undergoes dynamic phosphorylation and dephosphorylation during the splicing cycle to regulate pre-mRNA splicing. Twenty-eight threonine/proline repeats are phosphorylated by CDK11 during spliceosome activation and remain phosphorylated in the catalytically active spliceosomes. The function of phosphorylated SF3B1 (P-SF3B1), and the identity of spliceosomes stalled by CDK11 inhibition remain unclear. Using quantitative proteomics of chromatin-associated spliceosomes, we identify a previously uncharacterized intermediate complex B, arrested by CDK11 inhibitor OTS964, that incorporates the nineteen-related (NTR) but not nineteen (NTC) complex. iCLIP-seq revealed that P-SF3B1 engages with the U6 snRNA internal stem-loop (ISL), suggesting a potential role in stabilizing the RNA catalytic core. We further demonstrate that P-SF3B1 is recognized by forkhead-associated (FHA) domain of SNIP1, which promotes recruitment of retention and splicing (RES) complex during spliceosome activation. Acute SNIP1 depletion disrupts RES incorporation, causes widespread splicing defects, and promotes hyperphosphorylation of SF3B1 by CDK11. Mutations in SNIP1 FHA domain, including the neurodevelopmental disorder-associated E366G variant, impair P-SF3B1 binding, pre-mRNA splicing, and cell viability. Together, these findings uncover the phosphorylation-dependent CDK11/P-SF3B1/SNIP1 signaling axis that is critical for pre-mRNA splicing and cellular proliferation and provide a mechanistic insight into its dysregulation in disease. - Source: PubMed
Publication date: 2026/03/29
Gajdušková PavlaRuiz de Los Mozos IgorHluchý MilanMyšková AntoninaZábrady KateřinaManík PeterDragišić NedaHanáková KateřinaPotěšil DavidBologna SaraNováček JiříFriedel Caroline CTripsianes KonstantinosZdráhal ZbyněkBlazek Dalibor - Cognitive dysfunction is a prominent feature of psychotic spectrum disorders. Identifying neurocognitive subgroups and their neural underpinnings may help elucidate distinct pathophysiological mechanisms and inform targeted interventions. This study aimed to derive cognitive subtypes using latent profile analysis (LPA) of the Brief Assessment of Cognition in Schizophrenia (BACS) and investigate associated variations in resting-state functional connectivity among these cognitive profiles and biologically derived Biotypes. The BACS was administered to 1807 psychosis patients from the B-SNIP1 and 2 cohorts to perform LPA and identify cognitive subgroups. Regional homogeneity (ReHo), a measure of local functional connectivity, was computed from resting-state fMRI data in a subset (717 patients, 427 controls). Multivariate regression models examined associations between ReHo and cognitive LPA, Biotypes, and DSM diagnostic categories. LPA identified four cognitive profiles: cognitively comparable to controls (CCC), intermediate-1, intermediate-2, and severely impaired. These profiles showed unique dysconnectivity patterns, particularly within the striatal, default mode, salience, and executive control networks. The severely impaired group exhibited hyperconnectivity in basal ganglia and executive control networks. The intermediate groups showed default mode and salience network connectivity disruptions. The CCC group was the least impaired, with hyperconnectivity in sensory and auditory networks. Compared to Biotypes, LPA subgroups presented more domain-specific connectivity fingerprints. Psychosis patients exhibit heterogeneous cognitive profiles with divergent intrinsic functional dysconnectivity patterns. Cognitive LPA subgroups demonstrated more domain-localized neural signatures than DSM subtypes, potentially allowing for more targeted interventions. This approach highlights the utility of cognitive subtyping using standardized cognitive assessments in elucidating pathophysiological mechanisms in psychosis. - Source: PubMed
Publication date: 2025/07/02
Meda Shashwath ADykins Madison MHill Scot KClementz Brett AKeedy Sarah KMcDowell Jennifer EIvleva Elena IGershon Elliot SKeshavan Matcheri STamminga CarolPearlson Godfrey D - Previous studies have reported several genetic loci associated with lung function. However, the mediating mechanism between these genetic loci and lung function phenotype is rarely explored. In this research, we used a cross-tissue multi-omics post-GWAS analysis to explain the associations between DNA methylation, gene expression, and lung function. - Source: PubMed
Publication date: 2025/03/24
Peng ShishengFang JinlongMo WeiliangHu GuodongWu Senquan - Osteogenic transdifferentiation of vascular smooth muscle cells (VSMCs) has been recognized as the principal mechanism underlying vascular calcification (VC). Runt-related transcription factor 2 (RUNX2) in VSMCs plays a pivotal role because it constitutes an osteogenic transcription factor essential for bone formation. As a key DNA demethylation enzyme, ten-eleven translocation 2 (TET2) is crucial in maintaining the VSMC phenotype. However, whether TET2 involves in VC progression remains elusive. Here we identified a substantial downregulation of TET2 in calcified human and mouse arteries, as well as human primary VSMCs. In vitro gain- and loss-of-function experiments demonstrated that TET2 regulated VC. Subsequently, in vivo knockdown of TET2 significantly exacerbated VC in both vitamin D3- and adenine diet-induced chronic kidney disease (CKD) mouse models. Mechanistically, TET2 bound to and suppressed activity of the P2 promoter within the RUNX2 gene; however, an enzymatic loss-of-function mutation of TET2 did not change its binding and suppressive effects. Furthermore, TET2 formed a complex with histone deacetylases 1/2 (HDAC1/2) to deacetylate H3K27ac on the P2 promoter, thereby inhibiting its transcription. Moreover, SNIP1 was indispensable for TET2 to interact with HDAC1/2 to exert an inhibitory effect on VC, and knockdown of SNIP1 accelerated VC in mice. Collectively, our findings imply that TET2 might serve as a potential therapeutic target for VC. - Source: PubMed
Publication date: 2025/03/11
He DayuMa JianshuaiZhou ZitingQi YanliLian YaxinWang FengYin HuiyongZhang HuanjiZhang TingtingHuang Hui - - Source: PubMed
Publication date: 2025/01/04
Zhang YiLi Qin-ShanLiu Hong-LinTang Hong-TingYang Han-LinWu Dao-QiuHuang Yu-YingLi Li-ChengLiu Li-HongLi Meng-Xing