SCN1B Q07699

钠通道调节亚基β-1

功能描述

多种电压门控钠 (Nav) 通道的调节亚基，直接介导可兴奋膜的去极化。Navs，也称为 VGSCs（电压门控钠通道）或 VDSCs（电压依赖性钠通道），通过根据跨膜电压差在关闭和开放构象之间切换来运作。在开放构象中，它们允许 Na(+) 离子沿着其电化学梯度选择性地通过孔道。Na+ 离子的内流引起膜去极化，启动电信号在细胞和组织中的传播 (PubMed:14622265, PubMed:15525788, PubMed:18464934, PubMed:19710327, PubMed:29992740, PubMed:36696443, PubMed:8125980, PubMed:8394762)。辅助 beta 亚基参与 Nav 通道的定位和功能调节 (PubMed:15525788, PubMed:19710327, PubMed:29992740)。调节 SCN1A/Nav1.1、SCN2A/Nav1.2、SCN3A/Nav1.3、SCN4A/Nav1.4、SCN5A/Nav1.5、SCN8A/Nav1.6、SCN9A/Nav1.7 和 SCN10A/Nav1.8 的活性 (PubMed:14622265, PubMed:15525788, PubMed:18464934, PubMed:30765606, PubMed:36696443, PubMed:8125980, PubMed:8394762)。 {ECO:0000269|PubMed:14622265, ECO:0000269|PubMed:15525788, ECO:0000269|PubMed:18464934, ECO:0000269|PubMed:19710327, ECO:0000269|PubMed:29992740, ECO:0000269|PubMed:30765606, ECO:0000269|PubMed:36696443, ECO:0000269|PubMed:8125980, ECO:0000269|PubMed:8394762}.; FUNCTION: [Isoform 2]: 细胞粘附分子，在脑发育过程中的神经元迁移和路径寻找中发挥关键作用。刺激神经突生长 (PubMed:21994374)。对 SCN2A 钠通道复合物无调节功能 (PubMed:14622265)。 {ECO:0000269|PubMed:14622265, ECO:0000269|PubMed:21994374}.

组织特异性

The overall expression of isoform 1 and isoform 2 is very similar. Isoform 1 is abundantly expressed in skeletal muscle, heart and brain. Isoform 2 is highly expressed in brain and skeletal muscle and present at a very low level in heart, placenta, lung, liver, kidney and pancreas. In brain, isoform 2 is most abundant in the cerebellum, followed by the cerebral cortex and occipital lobe, while isoform 1 levels are higher in the cortex compared to the cerebellum. Isoform 2 is expressed in many regions of the brain, including cerebellar Purkinje cells, cortex pyramidal neurons and many of the neuronal fibers throughout the brain (at protein level). Also detected in dorsal root ganglion, in fibers of the spinal nerve and in cortical neurons and their processes (at protein level).

亚细胞定位

[Isoform 1]: Cell membrane