Gene Symbol |
SCN1B
|
Entrez Gene |
6324
|
Alt Symbol |
ATFB13, BRGDA5, GEFSP1
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
sodium channel, voltage gated, type I beta subunit
|
Other Description |
sodium channel beta-1 subunit|sodium channel subunit beta-1|sodium channel, voltage-gated, type I, beta subunit
|
Swissprots |
Q5TZZ4 Q6TN97 Q07699
|
Accessions |
AAB97608 AAC41946 ABQ01236 Q07699 AK295477 BAG58404 AK313279 BAG36087 AY391842 AAR25552 BC021266 AAH21266 BC030193 BC067122 AAH67122 BC112922 AAI12923 BF194996 BM805468 BT019923 AAV38726 L10338 AAA60391 L16242 AAA61277 XM_005259144 XP_005259201 NM_001037 NP_001028 NM_199037 NP_950238
|
Function |
Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its association with neurofascin may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons. {ECO:0000269|PubMed:14622265}.
|
Subcellular Location |
Membrane; Single-pass type I membrane protein.
|
Tissue Specificity |
The overall expression of isoforms 1 and 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). {ECO:0000269|PubMed:14622265}.
|
Top Pathways |
Adrenergic signaling in cardiomyocytes
|