Ask about this productRelated genes to: FAM62C antibody
- Gene:
- ESYT3 NIH gene
- Name:
- extended synaptotagmin 3
- Previous symbol:
- FAM62C
- Synonyms:
- CHR3SYT
- Chromosome:
- 3q22.3
- Locus Type:
- gene with protein product
- Date approved:
- 2005-04-21
- Date modifiied:
- 2016-06-08
Related products to: FAM62C antibody
Related articles to: FAM62C antibody
- To define the genetic architecture of foveal morphology and explore its relevance to foveal hypoplasia (FH), a hallmark of developmental macular disorders. - Source: PubMed
Hunt CallumYoon Ha-JunLirio AlvinColey KayeshaWang JunShrine NickShao JianmingMaconachie Gail D ETu ZhanhanZippin Jonathan HHysi Pirro GHammond Christopher JMahroo Omar AMoosajee MariyaMichaelides MichelWebster Andrew RMoshiri AlaChen RuiTobin Martin DBatini ChiaraThomas Mervyn G - Here we report the first genome-wide association study of foveal pit depth. In a cohort of 61,269 individuals, we identified 123 genome-wide significant loci associated with pit depth, including 47 novel associations not previously linked to macular traits. Using 12 complementary variant-to-gene mapping strategies, we prioritised 128 putative causal genes, 64 of which have not previously been implicated in foveal development. Our findings reveal previously unrecognised biological influences on foveal morphogenesis, including retinoic acid metabolism (implicating for the first time in human foveal development), extracellular matrix and cytoskeletal dynamics, and retinal cell fate determination. In addition, rare-variant analysis uncovered two further gene associations, including , a gene not previously linked to foveal structure. Together, these results provide new insights into the genetic architecture and molecular pathways underlying human foveal development, and offer a foundation for future functional studies aimed at characterising foveal development and disease. - Source: PubMed
Publication date: 2025/06/20
Hunt CallumYoon Ha-JunLirio AlvinColey KayeshaWang JunShrine NickShao JianmingDE Maconachie GailTu ZhanhanZippin Jonathan HHysi Pirro GHammond Christopher JMoshiri AlaChen RuiTobin Martin DBatini ChiaraThomas Mervyn G - Endoplasmic reticulum/plasma membrane (ER/PM) junctions are a major site of cellular signal transduction including in epithelia; however, whether their lipid membrane environment affects junctional ion transporters function remains unclear. Here, we show that epithelial secretion is governed by phosphatidylserine (PtdSer) levels in ER/PM nanodomains, specified by the antagonistic action of the lipid transfer proteins E-Syt3 and ORP5, which transduce cAMP signals to the chloride channel CFTR and activate the sodium-bicarbonate cotransporter NBCe1-B by IRBIT. Lipid transfer by E-Syt3, along with restricted plasma membrane localization by the E-Syt3 C2C domain, are essential for E-Syt3 function, as removal of PtdSer from junctions by E-Syt3 dissociated the cAMP signaling pathway complex, preventing CFTR activation, and prevented NBCe1-B activation by IRBIT. CFTR and NBCe1-B PtdSer sensor domains responded to PtdSer reduction by E-Syt3; which was reversed by exogenous PtdSer or by PtdSer supplied by ORP5. In mice, E-Syt3 depletion improved chloride flux and fluid secretion in salivary glands and isolated pancreatic ducts. These findings provide a framework for understanding the role of junctional lipids in the assembly of functional ion protein complexes and cellular communication at epithelial signaling hubs. - Source: PubMed
Publication date: 2025/05/27
Sarkar ParamitaLüscher Benjamin PYe ZengyouChung Woo YoungAbtahi Ava MovahedZheng ChangyuLee Min GooVarga ÁrpádPallagi PetraMaléth JózsefAhuja MaliniMuallem Shmuel - Primordial germ cells (PGCs) in avian species exhibit unique developmental features, including the ability to migrate through the bloodstream and colonize the gonads, allowing their isolation at various developmental stages. Several methods have been developed for the isolation of avian PGCs, including density gradient centrifugation, size-dependent separation, and magnetic-activated cell sorting (MACS) or fluorescence-activated cell sorting (FACS) using a stage-specific embryonic antigen-1 (SSEA-1) antibody. However, these methods present limitations in terms of efficiency and applicability across development stages. In particular, the specificity of SSEA-1 decreases in later developmental stages. Furthermore, surface markers that can be utilized for isolating or utilizing PGCs are lacking for wild birds, including zebra finches, and endangered avian species. To address this, we used single-cell RNA sequencing (scRNA-seq) to uncover novel PGC-specific surface markers in chicken and zebra finch. We screened for genes that were primarily expressed in the PGC population within the gonadal cells. Analyses of gene expression patterns and levels based on scRNA-seq, coupled with validation by RT-PCR, identified NEGR1 and SLC34A2 as novel PGC-specific surface markers in chickens and ESYT3 in zebra finches. Notably, these newly identified genes exhibited sustained expression not only during later developmental stages but also in reproductive tissues. - Source: PubMed
Publication date: 2024/09/26
Kim Jin LeeJung Kyung MinHan Jae Yong - Radiotherapy can modulate systemic antitumor immunity, while immune status in the tumor microenvironment also influences the efficacy of radiotherapy, but relevant molecular mechanisms are poorly understood in lung adenocarcinoma (LUAD). - Source: PubMed
Publication date: 2024/08/05
Luo ZanLi YingXu BinYu TenghuaLuo MingmingYou PeiMengNiu XingLi Junyu