Basic Information

Symbol
SCN1B
RNA class
mRNA
Alias
Sodium Voltage-Gated Channel Beta Subunit 1 Sodium Channel, Voltage Gated, Type I Beta Subunit Sodium Channel, Voltage-Gated, Type I, Beta Sodium Channel Regulatory Subunit Beta-1 Sodium Channel, Voltage-Gated, Type I, Beta Polypeptide Sodium Channel, Voltage-Gated, Type I, Beta Subunit Sodium Channel Subunit Beta-1 ATFB13 BRGDA5 EIEE52 GEFSP1 DEE52
Location (GRCh38)
19:35030447-35040455
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Mechanical injury analysis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001037.5
Sequence length
1666.0 nt
GC content
0.6573

Transcripts

ID Sequence Length GC content
NM_001037.5 NCBI
AGUGCGCAGGAGACCGCGGUCCGCGCCCGAGCGCGCCCGAGCCGGAGCG… 1666 nt 0.6573
NM_001321605.2 NCBI
AGAGAAGGACUCGGAGCGCACCGGAGUGGUCCGCUGGGAUGCUGGGGAC… 1785 nt 0.5966
NM_199037.5 NCBI
AGUGCGCAGGAGACCGCGGUCCGCGCCCGAGCGCGCCCGAGCCGGAGCG… 4780 nt 0.5444
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]

Forensic Context

A study in rabbits demonstrated that electrical injury to the sciatic nerve alters voltage-gated sodium channel expression and function in dorsal root ganglia neurons, with the SCN1B (Nav1.1) mRNA expression level significantly decreased after 50 V, 110 V, and 220 V injuries [Chen et al. DOI:10.1016/j.burns.2010.08.006].