InnateDB Protein
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IDBP-377582.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SCN1B
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Protein Name
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sodium channel, voltage-gated, type I, beta
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Synonyms
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ATFB13; BRGDA5; GEFSP1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000396915
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InnateDB Gene
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IDBG-43352 (SCN1B)
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Protein Structure
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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}.
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Subcellular Localization |
Membrane; Single-pass type I membrane protein.Isoform 2: Secreted {ECO:0000269PubMed:21994374}.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005248
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voltage-gated sodium channel activity
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GO:0005515
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protein binding
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GO:0017080
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sodium channel regulator activity
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GO:0019871
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sodium channel inhibitor activity
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GO:0086006
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voltage-gated sodium channel activity involved in cardiac muscle cell action potential
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GO:0086062
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voltage-gated sodium channel activity involved in Purkinje myocyte action potential
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Biological Process |
GO:0002028
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regulation of sodium ion transport
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GO:0007155
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cell adhesion
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GO:0007268
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synaptic transmission
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GO:0007411
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axon guidance
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GO:0010765
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positive regulation of sodium ion transport
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GO:0010976
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positive regulation of neuron projection development
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GO:0019227
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neuronal action potential propagation
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GO:0021966
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corticospinal neuron axon guidance
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GO:0035725
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sodium ion transmembrane transport
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GO:0040011
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locomotion
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GO:0046684
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response to pyrethroid
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GO:0051899
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membrane depolarization
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GO:0060048
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cardiac muscle contraction
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GO:0060307
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regulation of ventricular cardiac muscle cell membrane repolarization
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GO:0060371
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regulation of atrial cardiac muscle cell membrane depolarization
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GO:0061337
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cardiac conduction
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GO:0086002
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cardiac muscle cell action potential involved in contraction
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GO:0086012
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membrane depolarization during cardiac muscle cell action potential
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GO:0086047
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membrane depolarization during Purkinje myocyte cell action potential
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GO:0086091
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regulation of heart rate by cardiac conduction
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GO:2000649
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regulation of sodium ion transmembrane transporter activity
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Cellular Component |
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PDB ID |
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InterPro |
IPR013106
Immunoglobulin V-set domain
IPR013151
Immunoglobulin
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PFAM |
PF07686
PF00047
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q07699
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PhosphoSite |
PhosphoSite-
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
6324
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UniGene |
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RefSeq |
NP_950238
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HUGO |
HGNC:10586
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OMIM |
600235
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CCDS |
CCDS46047
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HPRD |
02581
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IMGT |
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EMBL |
AC020907
AK313279
AY391842
BC067122
BT019923
DQ677665
L10338
L16242
U12189
U12190
U12191
U12192
U12193
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GenPept |
AAA60391
AAA61277
AAB97608
AAH67122
AAR25552
AAV38726
ABQ01236
BAG36087
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