SNAPC4 Mouse Monoclonal Antibody
- Known as:
- SNAPC4 Mouse Monoclonal Antibody
- Catalog number:
- ENZ-006621-M01
- Product Quantity:
- 0.1mg
- Category:
- -
- Supplier:
- Zyagen
- Gene target:
- SNAPC4 Mouse Monoclonal Antibody
Related genes to: SNAPC4 Mouse Monoclonal Antibody
- Gene:
- SNAPC4 NIH gene
- Name:
- small nuclear RNA activating complex polypeptide 4
- Previous symbol:
- -
- Synonyms:
- SNAP190, PTFalpha, FLJ13451
- Chromosome:
- 9q34.3
- Locus Type:
- gene with protein product
- Date approved:
- 1998-02-17
- Date modifiied:
- 2015-11-09
Related products to: SNAPC4 Mouse Monoclonal Antibody
Related articles to: SNAPC4 Mouse Monoclonal Antibody
- Pterygium was a common progressive ocular disease with unclear pathogenesis. The aim of this study was to identify biomarkers associated with the integrated stress response (ISR) in pterygia and explore the underlying molecular mechanisms. - Source: PubMed
Publication date: 2025/11/22
Xiang JunCheng JingyiFan YidanWu JiawenLyu ZhaoyuanGu JiayuXu JianjiangLyu Ning - The noncoding small nuclear RNAs (snRNAs) associate with a large set of proteins to form small nuclear ribonucleoprotein particles (snRNPs). While the function of snRNAs is well characterized, the regulation of their transcription remains poorly understood. Recently, we demonstrated that SUMO conjugation regulates snRNA3' end processing. To further study the connection between SUMOylation and snRNA biogenesis, we generated a CRISPR/dCas9 tool comprising a catalytically inactive Cas9 (dCas9) fused to the catalytic domain of the SUMO protease SENP1 (dCas9-SENP1). Here, we show that snRNA transcription decreases when dCas9-SENP1 is delivered to their promoter-proximal sequence elements (PSE), indicating that SUMO conjugation to proteins associated with snRNA promoters is necessary for proper transcriptional activity. Focusing on SNAPC1, a subunit of the snRNA-specific transcription complex SNAPc, we identified lysine residues 245 and 333 as SUMO acceptor sites and generated a SUMOylation-deficient mutant of this protein (SNAPC1 2KR). To explore the relevance of SNAPC1 SUMOylation on snRNA transcription, we generated a cell line carrying an inducible degron system for depletion of the endogenous SNAPC1 protein. This system led us to demonstrate that SNAPC1 2KR is unable to sustain basal levels of snRNA transcription. By tagging endogenous SNAPC3 and SNAPC4, two other subunits of SNAPc, we show that while SNAPC1 SUMOylation-deficient mutant is able to interact with SNAPC3, its interaction with SNAPC4 is affected, despite the fact it is still recruited to the PSE. Altogether, these results indicate that SNAPC1 SUMOylation is required for proper snRNA transcription and SNAPc complex assembly. - Source: PubMed
Publication date: 2025/09/16
Bragado LaureanoPozzi BertaBeckerman InésMagalnik MelinaSrebrow Anabella - In 30-40% of fetuses with structural defects, the causal variant remains undiagnosed after karyotype, chromosomal microarray, and exome sequencing. This study presents the results of a reanalysis of unsolved prenatal ES (pES) cases and investigates how postnatal/postmortem phenotyping contributes to identifying relevant variants. pES data was prospectively reanalyzed for unsolved cases enrolled in the AnDDI-Prénatome cohort study. Postnatal/postmortem data were included with prenatal features using Human Phenotype Ontology terms up to 3 years after pES. The reanalysis involved updating bioinformatic processing and querying raw data using a GREP query. We reanalyzed 58/94 (62%) unsolved pES cases, including 8 variants of unknown significance. Data for clinical examination at birth was available for all live newborns, and postmortem examination was available in 12 terminated fetuses. Additional features were identified at birth in 27/58 cases (44%): 9 terminated fetuses, 2 stillbirths, and 16 live newborns. One diagnosis (SNAPC4) was obtained through a periodic query following recent associations with human disease, and without additional clinical data. Three additional VUS were identified through reanalysis with the addition of new clinical features, illustrating the limited contribution of updated postnatal/postmortem phenotyping in identifying relevant variants after negative pES. In conclusion, the benefit of prospective reanalysis of unsolved pES is limited, even over time. Postnatal genome sequencing may be a more appropriate option than reanalysis with postnatal/postmortem phenotyping to establish a causal diagnosis. - Source: PubMed
Publication date: 2025/04/04
Thauvin-Robinet ChristelGarde AuroreFavier MaudDelanne JulianRacine CarolineRousseau ThierryNambot SophieBruel Ange-LineMoutton SébastienQuelin ChloéColson CindyBrehin Anne-ClaireGuerrot Anne-MarieRooryck CarolinePutoux AudreyBlanchet PatriciaOdent SylvieSchaefer EliseBoute OdileGoldenberg AliceGuichet AgnesAbel CarineMorel GodelieveFradin MelanieIsidor BertrandVincent MarieFrancannet ChristineVera GabriellaPetit FlorenceNizon MathildeWells ConstanceJeanne MedericDeiller CarolineZiegler AlbanGodin ManonSaugier-Veber PascaleCassinari KevinBlanc PierreSimon EmmanuelBinquet ChristineDuffourd YannisSafraou HanaDenomme-Pichon Anne-SophieVitobello AntonioPhilippe ChristopheFaivre LaurenceTran-Mau-Them FrédéricBourgon Nicolas - Inflammatory bowel disease (IBD) is occasionally associated with ophthalmic diseases, including iridocyclitis (IC). The co-occurrence of IBD and IC has been increasingly observed, possibly due to shared genetic structures. - Source: PubMed
Publication date: 2024/10/29
Liao WuLuo QinghuaZhang LeichangWang HaiyanGe WeiWang JiawenZuo Zhengyun - Esophageal spindle-cell squamous cell carcinoma (ESS) is a rare biphasic neoplasm composed of a carcinomatous component (CaC) and a sarcomatous component (SaC). However, the genomic origin and gene signature of ESS remain unclear. Using whole-exome sequencing of laser-capture microdissection (LCM) tumor samples, we determined that CaC and SaC showed high mutational commonality, with the same top high-frequency mutant genes, mutation signatures, and tumor mutation burden; paired samples shared a median of 25.5% mutation sites. Focal gains were found on chromosomes 3q29, 5p15.33, and 11q13.3. Altered genes were mainly enriched in the RTK-RAS signaling pathway. Phylogenetic trees showed a monoclonal origin of ESS. The most frequently mutated oncogene in the trunk was TP53, followed by NFE2L2, KMT2D, and MUC16. Prognostic associations were found for CDC27, LRP2, APC, and SNAPC4. Our data highlight the monoclonal origin of ESS with TP53 as a potent driver oncogene, suggesting new targeted therapies and immunotherapies as treatment options. © 2024 The Pathological Society of Great Britain and Ireland. - Source: PubMed
Publication date: 2024/07/18
Wang YuluZhu QianWu YaqingLi BoyiSu XiaoxingXiang ChanHan Yuchen