Scn1b sodium channel, voltage-gated, type I, beta [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Scn1bprovided by MGI
Official Full Name: sodium channel, voltage-gated, type I, betaprovided by MGI
Primary source: MGI:MGI:98247
See related: Ensembl:ENSMUSG00000019194 AllianceGenome:MGI:98247
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables sodium channel inhibitor activity and voltage-gated sodium channel activity involved in cardiac muscle cell action potential. Involved in several processes, including membrane depolarization during cardiac muscle cell action potential; regulation of ventricular cardiac muscle cell membrane repolarization; and sodium ion transmembrane transport. Acts upstream of or within corticospinal neuron axon guidance; neuronal action potential propagation; and positive regulation of neuron projection development. Located in T-tubule; intercalated disc; and node of Ranvier. Part of sodium channel complex. Is expressed in heart. Used to study generalized epilepsy with febrile seizures plus. Human ortholog(s) of this gene implicated in Brugada syndrome 5; developmental and epileptic encephalopathy 52; familial atrial fibrillation; and generalized epilepsy with febrile seizures plus 1. Orthologous to human SCN1B (sodium voltage-gated channel beta subunit 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 317.2), cortex adult (RPKM 267.6) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B1; 7 19.3 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (30815949..30826436, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (31116524..31127023, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Complex Synaptic and Intrinsic Interactions Disrupt Input/Output Functions in the Hippocampus of Scn1b Knock-Out Mice.
Title: Complex Synaptic and Intrinsic Interactions Disrupt Input/Output Functions in the Hippocampus of Scn1b Knock-Out Mice.
Heterogeneity of voltage gated sodium current density between neurons decorrelates spiking and suppresses network synchronization in Scn1b null mouse models.
Title: Heterogeneity of voltage gated sodium current density between neurons decorrelates spiking and suppresses network synchronization in Scn1b null mouse models.
Neonatal Scn1b-null mice have sinoatrial node dysfunction, altered atrial structure, and atrial fibrillation.
Title: Neonatal Scn1b-null mice have sinoatrial node dysfunction, altered atrial structure, and atrial fibrillation.
Scn1b expression in the adult mouse heart modulates Na(+) influx in myocytes and reveals a mechanistic link between Na(+) entry and diastolic function.
Title: Scn1b expression in the adult mouse heart modulates Na(+) influx in myocytes and reveals a mechanistic link between Na(+) entry and diastolic function.
Excitatory and inhibitory neuron defects in a mouse model of Scn1b-linked EIEE52.
Title: Excitatory and inhibitory neuron defects in a mouse model of Scn1b-linked EIEE52.
Sodium channel beta1 subunits are post-translationally modified by tyrosine phosphorylation, S-palmitoylation, and regulated intramembrane proteolysis.
Title: Sodium channel β1 subunits are post-translationally modified by tyrosine phosphorylation, S-palmitoylation, and regulated intramembrane proteolysis.
Delayed maturation of GABAergic signaling in the Scn1a and Scn1b mouse models of Dravet Syndrome.
Title: Delayed maturation of GABAergic signaling in the Scn1a and Scn1b mouse models of Dravet Syndrome.
This study demonstrated that the sodium channel beta1 subunit proteins encoded by this mutant gene are expressed at the surface of neuronal cell bodies.
Title: β1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function.
Loss of Scn1b caused increased amplitude of tetrodotoxin-sensitive INa, delayed after-depolarizations, triggered beats, changed Ca2+ transients,and susceptibility ventricular arrhythmias.
Title: Scn1b deletion leads to increased tetrodotoxin-sensitive sodium current, altered intracellular calcium homeostasis and arrhythmias in murine hearts.
Study showed that Scn1b is widely expressed at axon initial segments across the mouse brain, there is considerable heterogeneity in the proportion of Scn1b-positive neurons and the amount of expression between and within brain regions
Title: Sodium channel β1 subunit localizes to axon initial segments of excitatory and inhibitory neurons and shows regional heterogeneity in mouse brain.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (6) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Scn1b (e-PCR), detects polymorphism
- UniSTS:516637

Scn1b (e-PCR), detects polymorphism
- UniSTS:472869

PMC15797P1 (e-PCR)
- UniSTS:271432

U85786 (e-PCR)
- UniSTS:159622

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sodium channel activity	IEA Inferred from Electronic Annotation more info
enables sodium channel inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium channel inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables sodium channel regulator activity	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated sodium channel activity	ISO Inferred from Sequence Orthology more info
enables voltage-gated sodium channel activity involved in Purkinje myocyte action potential	ISO Inferred from Sequence Orthology more info
enables voltage-gated sodium channel activity involved in cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
enables voltage-gated sodium channel activity involved in cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle cell action potential involved in contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle cell action potential involved in contraction	ISO Inferred from Sequence Orthology more info
involved_in cardiac muscle contraction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within corticospinal neuron axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane depolarization	ISO Inferred from Sequence Orthology more info
involved_in membrane depolarization during Purkinje myocyte cell action potential	ISO Inferred from Sequence Orthology more info
involved_in membrane depolarization during cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of neuron projection development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuronal action potential propagation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of neuron projection development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of sodium ion transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of voltage-gated sodium channel activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of atrial cardiac muscle cell membrane depolarization	ISO Inferred from Sequence Orthology more info
involved_in regulation of heart rate by cardiac conduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of heart rate by cardiac conduction	ISO Inferred from Sequence Orthology more info
involved_in regulation of sodium ion transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of sodium ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of sodium ion transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of ventricular cardiac muscle cell membrane repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to pyrethroid	ISO Inferred from Sequence Orthology more info
involved_in sodium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sodium ion transport	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in T-tubule	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in intercalated disc	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
part_of monoatomic ion channel complex	IEA Inferred from Electronic Annotation more info
located_in node of Ranvier	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with node of Ranvier	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of sodium channel complex	IPI Inferred from Physical Interaction more info	PubMed
part_of voltage-gated sodium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated sodium channel complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sodium channel subunit beta-1

Names: sodium channel, voltage-gated, type I, beta polypeptide

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001402334.1 → NP_001389263.1 sodium channel subunit beta-1 isoform 2

Status: VALIDATED

Source sequence(s)

AC158993

Conserved Domains (2) summary

cd00096
Location:22 → 25

Ig; Ig strand C [structural motif]

pfam07686
Location:8 → 114

V-set; Immunoglobulin V-set domain
NM_011322.4 → NP_035452.1 sodium channel subunit beta-1 isoform 1 precursor

See identical proteins and their annotated locations for NP_035452.1

Status: VALIDATED

Source sequence(s)

AC158993

Consensus CDS

CCDS21126.1

UniProtKB/Swiss-Prot

P97952

Related

ENSMUSP00000096148.5, ENSMUST00000098548.8

Conserved Domains (1) summary

pfam07686
Location:23 → 147

V-set; Immunoglobulin V-set domain