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Protein

Sodium channel subunit beta-1

Gene

SCN1B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 NFASC may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons.1 Publication
Isoform 2: Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth.1 Publication

GO - Molecular functioni

  • sodium channel inhibitor activity Source: BHF-UCL
  • sodium channel regulator activity Source: BHF-UCL
  • voltage-gated ion channel activity Source: UniProtKB-KW
  • voltage-gated sodium channel activity Source: BHF-UCL
  • voltage-gated sodium channel activity involved in cardiac muscle cell action potential Source: BHF-UCL
  • voltage-gated sodium channel activity involved in Purkinje myocyte action potential Source: BHF-UCL

GO - Biological processi

  • axon guidance Source: BHF-UCL
  • cardiac conduction Source: BHF-UCL
  • cardiac muscle cell action potential involved in contraction Source: BHF-UCL
  • cardiac muscle contraction Source: BHF-UCL
  • cell adhesion Source: UniProtKB-KW
  • chemical synaptic transmission Source: ProtInc
  • corticospinal neuron axon guidance Source: BHF-UCL
  • locomotion Source: BHF-UCL
  • membrane depolarization Source: BHF-UCL
  • membrane depolarization during cardiac muscle cell action potential Source: BHF-UCL
  • membrane depolarization during Purkinje myocyte cell action potential Source: BHF-UCL
  • neuronal action potential propagation Source: BHF-UCL
  • positive regulation of neuron projection development Source: BHF-UCL
  • positive regulation of sodium ion transport Source: BHF-UCL
  • regulation of atrial cardiac muscle cell membrane depolarization Source: BHF-UCL
  • regulation of heart rate by cardiac conduction Source: BHF-UCL
  • regulation of sodium ion transmembrane transporter activity Source: BHF-UCL
  • regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
  • response to pyrethroid Source: Ensembl
  • sodium ion transmembrane transport Source: BHF-UCL

Keywordsi

Molecular functionIon channel, Sodium channel, Voltage-gated channel
Biological processCell adhesion, Ion transport, Sodium transport, Transport
LigandSodium

Enzyme and pathway databases

ReactomeiR-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-5576892 Phase 0 - rapid depolarisation

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium channel subunit beta-1
Gene namesi
Name:SCN1B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000105711.10
HGNCiHGNC:10586 SCN1B
MIMi600235 gene
neXtProtiNX_Q07699

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini19 – 160ExtracellularSequence analysisAdd BLAST142
Transmembranei161 – 182HelicalSequence analysisAdd BLAST22
Topological domaini183 – 218CytoplasmicSequence analysisAdd BLAST36

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Generalized epilepsy with febrile seizures plus 1 (GEFS+1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:604233
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010165121C → W in GEFS+1; can rescue the loss of function and defective trafficking to cell membrane phenotype of the SCN1A variant Thr-1852. 2 PublicationsCorresponds to variant dbSNP:rs104894718EnsemblClinVar.1
Natural variantiVAR_067341125R → L in GEFS+1. 1 Publication1
Brugada syndrome 5 (BRGDA5)1 Publication
The gene represented in this entry may be involved in disease pathogenesis.
Disease descriptionA 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.
See also OMIM:612838
Atrial fibrillation, familial, 13 (ATFB13)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615377
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07021985R → H in ATFB13; the mutant results in highly reduced sodium currents and altered channel gating when coexpressed with SCN5A in a heterologous expression system. 1 PublicationCorresponds to variant dbSNP:rs16969925EnsemblClinVar.1
Natural variantiVAR_070220153D → N in ATFB13; the mutant results in reduced sodium currents when coexpressed with SCN5A in a heterologous expression system. 1 PublicationCorresponds to variant dbSNP:rs72550247EnsemblClinVar.1
Epileptic encephalopathy, early infantile, 52 (EIEE52)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE52 inheritance is autosomal recessive.
See also OMIM:617350
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078019106I → T in EIEE52; unknown pathological significance. 1 Publication1
Natural variantiVAR_078020125R → C in EIEE52; severely decreased channel localization at the cell membrane. 1 PublicationCorresponds to variant dbSNP:rs1135401736Ensembl.1

Keywords - Diseasei

Atrial fibrillation, Brugada syndrome, Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi6324
GeneReviewsiSCN1B
MalaCardsiSCN1B
MIMi604233 phenotype
612838 phenotype
615377 phenotype
617350 phenotype
OpenTargetsiENSG00000105711
Orphaneti130 Brugada syndrome
33069 Dravet syndrome
871 Familial progressive cardiac conduction defect
36387 Generalized epilepsy with febrile seizures-plus
PharmGKBiPA302

Chemistry databases

DrugBankiDB00313 Valproic Acid
DB00909 Zonisamide

Polymorphism and mutation databases

BioMutaiSCN1B
DMDMi1705868

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18Sequence analysisAdd BLAST18
ChainiPRO_000001492619 – 218Sodium channel subunit beta-1Add BLAST200

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi40 ↔ 121By similarity
Glycosylationi93N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi110N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi114N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi135N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ07699
PeptideAtlasiQ07699
PRIDEiQ07699
ProteomicsDBi58527
58528 [Q07699-2]

PTM databases

PhosphoSitePlusiQ07699

Miscellaneous databases

PMAP-CutDBiQ07699

Expressioni

Tissue specificityi

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).1 Publication

Gene expression databases

BgeeiENSG00000105711
CleanExiHS_SCN1B
ExpressionAtlasiQ07699 baseline and differential
GenevisibleiQ07699 HS

Interactioni

Subunit structurei

The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more beta-1, beta-2 and beta-3. Beta-1 and beta-3 are non-covalently associated with alpha, while beta-2 is covalently linked by disulfide bonds. Beta-1 or beta-3 subunits associate with NFASC. Associates with SCN10A (By similarity). Interacts with SCN1A (PubMed:15525788, PubMed:17928445). Interacts with SCN8A (PubMed:26900580).By similarity3 Publications

Protein-protein interaction databases

BioGridi112229, 12 interactors
STRINGi9606.ENSP00000396915

Structurei

3D structure databases

ProteinModelPortaliQ07699
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini22 – 150Ig-like C2-typeAdd BLAST129

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IVI4 Eukaryota
ENOG4111MS0 LUCA
GeneTreeiENSGT00390000018560
HOGENOMiHOG000276881
HOVERGENiHBG056582
InParanoidiQ07699
KOiK04845
OMAiDNCAGVQ
OrthoDBiEOG091G0OF7
PhylomeDBiQ07699
TreeFamiTF332097

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013106 Ig_V-set
IPR027098 Na_channel_b1/b3
PANTHERiPTHR10546 PTHR10546, 1 hit
PfamiView protein in Pfam
PF07686 V-set, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q07699-1) [UniParc]FASTAAdd to basket
Also known as: Beta-1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGRLLALVVG AALVSSACGG CVEVDSETEA VYGMTFKILC ISCKRRSETN
60 70 80 90 100
AETFTEWTFR QKGTEEFVKI LRYENEVLQL EEDERFEGRV VWNGSRGTKD
110 120 130 140 150
LQDLSIFITN VTYNHSGDYE CHVYRLLFFE NYEHNTSVVK KIHIEVVDKA
160 170 180 190 200
NRDMASIVSE IMMYVLIVVL TIWLVAEMIY CYKKIAAATE TAAQENASEY
210
LAITSESKEN CTGVQVAE
Length:218
Mass (Da):24,707
Last modified:October 1, 1996 - v1
Checksum:i09B812FA3F9E9018
GO
Isoform 2 (identifier: Q07699-2) [UniParc]FASTAAdd to basket
Also known as: Beta-1B, beta1A, beta1B

The sequence of this isoform differs from the canonical sequence as follows:
     150-218: ANRDMASIVS...ENCTGVQVAE → GESGAACPFT...IIRCVSRGVV

Note: Due to intron 3 retention.
Show »
Length:268
Mass (Da):30,440
Checksum:iD9A001E676C0FAD1
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06252325D → N Probable disease-associated mutation found in a patient with idiopathic childhood epilepsy; de novo mutation. 1 PublicationCorresponds to variant dbSNP:rs786205837EnsemblClinVar.1
Natural variantiVAR_07021985R → H in ATFB13; the mutant results in highly reduced sodium currents and altered channel gating when coexpressed with SCN5A in a heterologous expression system. 1 PublicationCorresponds to variant dbSNP:rs16969925EnsemblClinVar.1
Natural variantiVAR_06252487E → Q Probable disease-associated mutation found in a patient with non-specific cardiac conduction defects. 1 PublicationCorresponds to variant dbSNP:rs121434627EnsemblClinVar.1
Natural variantiVAR_078019106I → T in EIEE52; unknown pathological significance. 1 Publication1
Natural variantiVAR_010165121C → W in GEFS+1; can rescue the loss of function and defective trafficking to cell membrane phenotype of the SCN1A variant Thr-1852. 2 PublicationsCorresponds to variant dbSNP:rs104894718EnsemblClinVar.1
Natural variantiVAR_078020125R → C in EIEE52; severely decreased channel localization at the cell membrane. 1 PublicationCorresponds to variant dbSNP:rs1135401736Ensembl.1
Natural variantiVAR_067341125R → L in GEFS+1. 1 Publication1
Natural variantiVAR_062525138V → I1 PublicationCorresponds to variant dbSNP:rs72558029EnsemblClinVar.1
Natural variantiVAR_070220153D → N in ATFB13; the mutant results in reduced sodium currents when coexpressed with SCN5A in a heterologous expression system. 1 PublicationCorresponds to variant dbSNP:rs72550247EnsemblClinVar.1
Natural variantiVAR_062526208K → I1 PublicationCorresponds to variant dbSNP:rs780958012EnsemblClinVar.1
Natural variantiVAR_062527211C → Y1 PublicationCorresponds to variant dbSNP:rs150721582EnsemblClinVar.1
Natural variantiVAR_062528213G → D1 PublicationCorresponds to variant dbSNP:rs201209882EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_041982150 – 218ANRDM…VQVAE → GESGAACPFTVTHRRARWRD RWQAVDRTGWLCAWPANRPQ QRAEGEGSSPSCPLQLWPLF LSSPRRGQSMPVPHRRSGYR TQLCHLCCMTSGRCLLSLSQ RVVLGLPGIIIRCVSRGVV in isoform 2. 1 PublicationAdd BLAST69

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L10338 mRNA Translation: AAA60391.1
L16242 mRNA Translation: AAA61277.1
U12193
, U12189, U12190, U12191, U12192 Genomic DNA Translation: AAB97608.1
AY391842 mRNA Translation: AAR25552.1
AK313279 mRNA Translation: BAG36087.1
DQ677665 Genomic DNA Translation: ABQ01236.1
BT019923 mRNA Translation: AAV38726.1
AC020907 Genomic DNA No translation available.
BC067122 mRNA Translation: AAH67122.1
CCDSiCCDS12441.1 [Q07699-1]
CCDS46047.1 [Q07699-2]
PIRiA55734
RefSeqiNP_001028.1, NM_001037.4 [Q07699-1]
NP_001308534.1, NM_001321605.1
NP_950238.1, NM_199037.4 [Q07699-2]
UniGeneiHs.436646

Genome annotation databases

EnsembliENST00000262631; ENSP00000262631; ENSG00000105711 [Q07699-1]
ENST00000415950; ENSP00000396915; ENSG00000105711 [Q07699-2]
ENST00000638536; ENSP00000492022; ENSG00000105711 [Q07699-1]
GeneIDi6324
KEGGihsa:6324
UCSCiuc002nxo.3 human [Q07699-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSCN1B_HUMAN
AccessioniPrimary (citable) accession number: Q07699
Secondary accession number(s): Q5TZZ4, Q6TN97
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: July 18, 2018
This is version 178 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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