InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SCN1B

Summary

InnateDB Protein

IDBP-43354.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SCN1B

Protein Name

sodium channel, voltage-gated, type I, beta

Synonyms

ATFB13; BRGDA5; GEFSP1;

Species

Homo sapiens

Ensembl Protein

ENSP00000262631

InnateDB Gene

IDBG-43352 (SCN1B)

Protein Structure

UniProt Annotation

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:0000269PubMed:14622265}.Isoform 2: Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth. {ECO:0000269PubMed:14622265}.

Subcellular Localization

Membrane; Single-pass type I membrane protein.Isoform 2: Secreted {ECO:0000269PubMed:21994374}.

Disease Associations

Generalized epilepsy with febrile seizures plus 1 (GEFS+1) [MIM:604233]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO:0000269PubMed:21040232, ECO:0000269PubMed:9697698}. Note=The disease is caused by mutations affecting the gene represented in this entry.Brugada syndrome 5 (BRGDA5) [MIM:612838]: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269PubMed:18464934}. Note=The disease is caused by mutations affecting the gene represented in this entry.Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269PubMed:19808477}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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:0000269PubMed:14622265}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005248	voltage-gated sodium channel activity
GO:0017080	sodium channel regulator activity
GO:0019871	sodium channel inhibitor activity
GO:0086006	voltage-gated sodium channel activity involved in cardiac muscle cell action potential
GO:0086062	voltage-gated sodium channel activity involved in Purkinje myocyte action potential

Biological Process

GO:0007155	cell adhesion
GO:0007268	synaptic transmission
GO:0007411	axon guidance
GO:0010765	positive regulation of sodium ion transport
GO:0010976	positive regulation of neuron projection development
GO:0019227	neuronal action potential propagation
GO:0021966	corticospinal neuron axon guidance
GO:0035725	sodium ion transmembrane transport
GO:0040011	locomotion
GO:0051899	membrane depolarization
GO:0060048	cardiac muscle contraction
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization
GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization
GO:0061337	cardiac conduction
GO:0086002	cardiac muscle cell action potential involved in contraction
GO:0086012	membrane depolarization during cardiac muscle cell action potential
GO:0086047	membrane depolarization during Purkinje myocyte cell action potential
GO:0086091	regulation of heart rate by cardiac conduction
GO:2000649	regulation of sodium ion transmembrane transporter activity