这个基因的人类同源物涉及X连锁癫痫，伴有可变的学习障碍和行为障碍以及非综合征性X连锁智力残疾50。 与人类SYN1（突触蛋白I）正交。 [由基因组资源联盟，2022年4月提供] Dir./Indir. Genome sequence of the Brown Norway rat yields insights into mammalian evolution. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gene and alternative splicing annotation with AIR.

2022年9月12日 · Using the combined approaches of electron microscopy and genetics, we revealed that Syn1 palmitoylation is vital for its binding with F-actin but not SVs. Inhibition of Syn1 palmitoylation...

Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases.

2022年10月30日 · hSyn启动子是人SYN1基因的启动子，SYN1基因表达产生Synapsin1的蛋白，是特异性表达在神经元内的蛋白，因此一般选择hSyn启动子作为神经元的特异性启动子。

2013年2月1日 · A conserved Sp1 cis-site is required for an efficient SYN1 promoter activation. A and B, left, schematic representation of the mouse/human SYN1 promoter constructs. Four predicted Sp1 cis-sites (M1–M4/H1–H4) were mutated in the mouse/human SYN1 promoter region by site-directed mutagenesis to inhibit Sp1 binding.

2024年12月25日 · SYN1 (Synapsin I) is a Protein Coding gene. Diseases associated with SYN1 include Intellectual Developmental Disorder, X-Linked 50 and Epilepsy, X-Linked 1, With Variable Learning Disabilities And Behavior Disorders. Among its related pathways are Neurotransmitter release cycle and Sensory processing of sound.

突触蛋白 1 (SYN1) 是一种神经元磷蛋白，被认为与 AD 的病理学有关。 目的：本研究旨在阐明 SYN1 在改善 AD 中的确切作用及其潜在的调节机制。 方法：从GEO数据库下载AD数据集GSE48350，SYN1侧重于差异表达分析和基因本体论（GO）和京都基因与基因组百科全书（KEGG）富集分析。 建立 AD 大鼠模型后，用 RNAi 慢病毒处理以触发 SYN1 过表达。 通过多项实验（水迷宫测试和物体识别测试）验证了 SYN1 对 AD 相关行为的改善作用。

The phosphoprotein synapsin I (Syn I) plays a crucial role during axonogenesis and synaptogenesis as well as in synaptic transmission and plasticity of mature neurons. Abnormalities in SYN1 gene expression have been linked to important neuropsychiatric disorders, such as epilepsy and autism.

Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic SYN1 variants are associated with variable X-linked neurodevelopmental disorders mainly affecting males.

2013年10月7日 · Synapsin 1 (SYN1) is a phosphoprotein involved in nerve signal transmission. The porcine SYN1 promoter orthologue was cloned and characterized to provide a means of expressing a transgene specifically in neurons. The nucleotide sequence of the promoter displayed a high degree of conservation of elements responsible for neuron-specific expression.