SCN1B - sodium voltage-gated channel beta subunit 1 Gene
Also Known as DEE52; ATFB13; BRGDA5; EIEE52; GEFSP1
Species: Homo sapiens
About SCN1B
This gene has 10 transcripts (splice variants), 337 orthologues, 1 paralogue and is associated with 11 phenotypes. Broad expression in heart (RPKM 5.3), brain (RPKM 5.1) and 21 other tissues.
Summary
Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a Sodium Channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
SCN1B Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001037.5 | NP_001028.1 | sodium channel subunit beta-1 isoform a precursor |
| NM_001321605.2 | NP_001308534.1 | sodium channel subunit beta-1 isoform c |
| NM_199037.5 | NP_950238.1 | sodium channel subunit beta-1 isoform b precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
26900580 | GOA |
| NOT enables sodium channel regulator activity |
IDA
IDA: Inferred from direct assay
|
14622265 | GOA |
| enables sodium channel regulator activity |
IDA
IDA: Inferred from direct assay
|
8125980 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| is active in plasma membrane |
IDA
IDA: Inferred from direct assay
|
35277491 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
19710327 | GOA |
| part of voltage-gated sodium channel complex |
IDA
IDA: Inferred from direct assay
|
8125980 | GOA |
SCN1B Protein Structure
ig: Immunoglobulin domain (33 - 123)
- 0
- 100
- 200
- 218 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
sodium channel subunit beta-1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Developmental And Epileptic Encephalopathy 52 |
|
|
| Atrial Fibrillation, Familial, 13 |
|
|
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
|
| Brugada Syndrome 5 |
|
|
| Generalized Epilepsy With Febrile Seizures Plus |
|
|
| Dravet Syndrome |
|
|
| Familial Progressive Cardiac Conduction Defect |
|
|
| Cardiac Conduction Defect |
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
|
| Early Infantile Epileptic Encephalopathy |
|
|
| Brugada Syndrome |
|
|
| Febrile Seizures |
|
|
| Epilepsy |
|
|
| Benign Familial Neonatal Epilepsy |
|
|
| Familial Atrial Fibrillation |
|
|
| Right Bundle Branch Block |
|
|
| Atrial Fibrillation |
|
|
| Early Myoclonic Encephalopathy |
|
|
| Temporal Lobe Epilepsy |
|
|
| Febrile Seizures, Familial, 4 |
|
|
| Epilepsy, Idiopathic Generalized |
|
|
| Childhood Absence Epilepsy |
|
|
| Early Onset Absence Epilepsy |
|
|
| Sinoatrial Node Disease |
|
|
| Long Qt Syndrome |
|
|
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
|
| Febrile Seizures, Familial, 8 |
|
|
| Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
|
| Developmental And Epileptic Encephalopathy 21 |
|
|
| Febrile Seizures, Familial, 7 |
|
|
| Febrile Seizures, Familial, 9 |
|
|
| Developmental And Epileptic Encephalopathy |
|
|
| Epilepsy With Generalized Tonic-Clonic Seizures |
|
|
| Generalized Epilepsy With Febrile Seizures Plus, Type 6 |
|
|
| Familial Febrile Seizures |
|
|
| Progressive Familial Heart Block |
|
|
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
|
| Neonatal Period Electroclinical Syndrome |
|
|
| Long Qt Syndrome 3 |
|
|
| Developmental And Epileptic Encephalopathy 13 |
|
|
| Paroxysmal Extreme Pain Disorder |
|
|
| Sick Sinus Syndrome |
|
|
| Benign Familial Infantile Epilepsy |
|
|
| Short Qt Syndrome |
|
|
| Adolescence-Adult Electroclinical Syndrome |
|
|
| Developmental And Epileptic Encephalopathy 2 |
|
|
| Benign Neonatal Seizures |
|
|
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
|
| Childhood Electroclinical Syndrome |
|
|
| Third-Degree Atrioventricular Block |
|
|
| Epilepsy, Myoclonic Juvenile |
|
|
| Epilepsy, Familial Temporal Lobe, 1 |
|
|
| Paramyotonia Congenita Of Von Eulenburg |
|
|
| Infancy Electroclinical Syndrome |
|
|
| Long Qt Syndrome 2 |
|
|
| Erythromelalgia |
|
|
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
|
| Unverricht-Lundborg Syndrome |
|
|
| Long Qt Syndrome 1 |
|
|
| Heart Conduction Disease |
|
|
| Lennox-Gastaut Syndrome |
|
|
| Progressive Myoclonus Epilepsy |
|
|
| Myoclonic Epilepsy Of Lafora |
|
|
| West Syndrome |
|
|
| Left Ventricular Noncompaction |
|
|
| Dilated Cardiomyopathy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | SCN1B | VGNC | VGNC:64921 |
| Bos taurus | SCN1B | VGNC | VGNC:34346 |
| Canis familiaris | SCN1B | VGNC | VGNC:45916 |
| Rattus norvegicus | SCN1B | RGD | RGD:3631 |
| Mus musculus | SCN1B | MGD | MGI:98247 |
| Macaca mulatta | SCN1B | VGNC | VGNC:76983 |
| Others | SCN1B | NCBI |