• Gene id: 6324

Gene Summary

• Gene Symbol: SCN1B   Gene   UCSC   Ensembl
• Aliases: ATFB13, BRGDA5, EIEE52, GEFSP1
• Gene name: sodium voltage-gated channel beta subunit 1
• Alternate names: sodium channel subunit beta-1, sodium channel, voltage gated, type I beta subunit, sodium channel, voltage-gated, type I, beta,
• Gene location: 19q13.11 (35030469: 35040448)     Exons: 7     NC_000019.10
• Gene summary(Entrez): 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 activi
• OMIM: 600235

Protein Summary

• Protein general information: Q07699  
  • Name: Sodium channel subunit beta 1
  • Length: 218  
  • Mass: 24707
  • Tissue specificity: 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 hea
• Sequence:

  MGRLLALVVGAALVSSACGGCVEVDSETEAVYGMTFKILCISCKRRSETNAETFTEWTFRQKGTEEFVKILRYEN
  EVLQLEEDERFEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYECHVYRLLFFENYEHNTSVVKKIHIEVVDKA
  NRDMASIVSEIMMYVLIVVLTIWLVAEMIYCYKKIAAATETAAQENASEYLAITSESKENCTGVQVAE

• Structural information:
  • Protein Domains: (22..15-)
    (/note="Ig-like-C2-type")
  • Interpro: IPR036179  IPR013783  IPR013106  IPR027098  
  • PDB: 6AGF 6J8G 6J8H 6J8I 6J8J
  • PDBsum: 6AGF 6J8G 6J8H 6J8I 6J8J
  • STRING: ENSP00000396915
• Other Databases: GeneCards:  SCN1B  Malacards:  SCN1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0086091	regulation of heart rate by cardiac conduction	IBA	biological process
GO:0019871	sodium channel inhibitor activity	IBA	molecular function
GO:2000649	regulation of sodium ion transmembrane transporter activity	IBA	biological process
GO:0086002	cardiac muscle cell action potential involved in contraction	IBA	biological process
GO:0044325	ion channel binding	IBA	molecular function
GO:0001518	voltage-gated sodium channel complex	IBA	cellular component
GO:0001518	voltage-gated sodium channel complex	IDA	cellular component
GO:0001518	voltage-gated sodium channel complex	IDA	cellular component
GO:0017080	sodium channel regulator activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0017080	sodium channel regulator activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001518	voltage-gated sodium channel complex	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0017080	sodium channel regulator activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005272	sodium channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0061337	cardiac conduction	TAS	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0019871	sodium channel inhibitor activity	IEA	molecular function
GO:0034706	sodium channel complex	IEA	cellular component
GO:0040011	locomotion	IEA	biological process
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0017080	sodium channel regulator activity	IEA	molecular function
GO:1905150	regulation of voltage-gated sodium channel activity	IEA	biological process
GO:0014704	intercalated disc	IEA	cellular component
GO:0019227	neuronal action potential propagation	IEA	biological process
GO:0021966	corticospinal neuron axon guidance	IEA	biological process
GO:0030315	T-tubule	IEA	cellular component
GO:0033268	node of Ranvier	IEA	cellular component
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0061337	cardiac conduction	IEA	biological process
GO:0086006	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	IEA	molecular function
GO:0086012	membrane depolarization during cardiac muscle cell action potential	IEA	biological process
GO:0001518	voltage-gated sodium channel complex	IEA	cellular component
GO:0002028	regulation of sodium ion transport	IEA	biological process
GO:0033268	node of Ranvier	IEA	cellular component
GO:0046684	response to pyrethroid	IEA	biological process
GO:0005248	voltage-gated sodium channel activity	IDA	molecular function
GO:0017080	sodium channel regulator activity	IDA	molecular function
GO:0017080	sodium channel regulator activity	IDA	molecular function
GO:0086006	voltage-gated sodium channel activity involved in cardiac muscle cell action potential	IMP	molecular function
GO:0019871	sodium channel inhibitor activity	ISS	molecular function
GO:0086062	voltage-gated sodium channel activity involved in Purkinje myocyte action potential	IMP	molecular function
GO:0051899	membrane depolarization	IDA	biological process
GO:0001518	voltage-gated sodium channel complex	IDA	cellular component
GO:0001518	voltage-gated sodium channel complex	IDA	cellular component
GO:0010765	positive regulation of sodium ion transport	IDA	biological process
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:0035725	sodium ion transmembrane transport	IDA	biological process
GO:2000649	regulation of sodium ion transmembrane transporter activity	IDA	biological process
GO:0014704	intercalated disc	ISS	cellular component
GO:0019227	neuronal action potential propagation	ISS	biological process
GO:0021966	corticospinal neuron axon guidance	ISS	biological process
GO:0030315	T-tubule	ISS	cellular component
GO:0033268	node of Ranvier	ISS	cellular component
GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization	IMP	biological process
GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization	IMP	biological process
GO:0061337	cardiac conduction	ISS	biological process
GO:0086002	cardiac muscle cell action potential involved in contraction	IMP	biological process
GO:0086012	membrane depolarization during cardiac muscle cell action potential	ISS	biological process
GO:0086047	membrane depolarization during Purkinje myocyte cell action potential	IMP	biological process
GO:0007411	axon guidance	ISS	biological process
GO:0010976	positive regulation of neuron projection development	ISS	biological process
GO:0040011	locomotion	ISS	biological process
GO:0060048	cardiac muscle contraction	IMP	biological process
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	ISS	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04261	Adrenergic signaling in cardiomyocytes

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Atrial fibrillation	KEGG:H00731
Brugada syndrome	KEGG:H00728
Febrile seizures	KEGG:H00783
Early infantile epileptic encephalopathy	KEGG:H00606
Atrial fibrillation	KEGG:H00731
Brugada syndrome	KEGG:H00728
Febrile seizures	KEGG:H00783
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray