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Protein

Sodium channel subunit beta-3

Gene

SCN3B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Modulates channel gating kinetics. Causes unique persistent sodium currents. Inactivates the sodium channel opening more slowly than the subunit beta-1. Its association with neurofascin may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons (By similarity).By similarity

GO - Molecular functioni

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

GO - Biological processi

  • atrial cardiac muscle cell action potential Source: BHF-UCL
  • cardiac muscle cell action potential involved in contraction Source: BHF-UCL
  • cardiac muscle contraction Source: BHF-UCL
  • membrane depolarization Source: BHF-UCL
  • membrane depolarization during action potential Source: BHF-UCL
  • membrane depolarization during cardiac muscle cell action potential Source: BHF-UCL
  • nervous system development Source: Ensembl
  • positive regulation of heart rate Source: BHF-UCL
  • positive regulation of sodium ion transport Source: BHF-UCL
  • protein localization to plasma membrane 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 depolarization Source: BHF-UCL
  • SA node cell action potential Source: BHF-UCL
  • sensory perception of pain Source: Ensembl
  • sodium ion transmembrane transport Source: BHF-UCL
  • sodium ion transport Source: UniProtKB
  • ventricular cardiac muscle cell action potential Source: BHF-UCL

Keywordsi

Molecular functionIon channel, Sodium channel, Voltage-gated channel
Biological processIon 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-3
Gene namesi
Name:SCN3B
Synonyms:KIAA1158
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:20665. SCN3B.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini23 – 159ExtracellularSequence analysisAdd BLAST137
Transmembranei160 – 180HelicalSequence analysisAdd BLAST21
Topological domaini181 – 215CytoplasmicSequence analysisAdd BLAST35

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB
  • plasma membrane Source: LIFEdb
  • voltage-gated sodium channel complex Source: BHF-UCL
  • Z disc Source: BHF-UCL

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Brugada syndrome 7 (BRGDA7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
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:613120
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06252910L → P in BRGDA7 AND ATFB16; results in a decrease in peak sodium current density. 2 PublicationsCorresponds to variant dbSNP:rs121918282Ensembl.1
Atrial fibrillation, familial, 16 (ATFB16)2 Publications
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:613120
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0713146R → K in ATFB16; affects steady-state channel inactivation. 1 PublicationCorresponds to variant dbSNP:rs587777558Ensembl.1
Natural variantiVAR_06252910L → P in BRGDA7 AND ATFB16; results in a decrease in peak sodium current density. 2 PublicationsCorresponds to variant dbSNP:rs121918282Ensembl.1
Natural variantiVAR_071315130A → V in ATFB16; results in decreased sodium current density. 1 PublicationCorresponds to variant dbSNP:rs587777556Ensembl.1
Natural variantiVAR_071316161M → T in ATFB16; results in a decrease in peak sodium current density. 1 PublicationCorresponds to variant dbSNP:rs587777557Ensembl.1

Keywords - Diseasei

Atrial fibrillation, Brugada syndrome, Disease mutation

Organism-specific databases

DisGeNETi55800.
GeneReviewsiSCN3B.
MalaCardsiSCN3B.
MIMi613120. phenotype.
OpenTargetsiENSG00000166257.
Orphaneti130. Brugada syndrome.
334. Familial atrial fibrillation.
PharmGKBiPA130546912.

Chemistry databases

DrugBankiDB00313. Valproic Acid.
DB00909. Zonisamide.

Polymorphism and mutation databases

BioMutaiSCN3B.
DMDMi12229762.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22By similarityAdd BLAST22
ChainiPRO_000001493323 – 215Sodium channel subunit beta-3Add BLAST193

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi26 ↔ 48PROSITE-ProRule annotation
Disulfide bondi45 ↔ 120PROSITE-ProRule annotation
Glycosylationi95N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi109N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi113N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi121N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9NY72.
PeptideAtlasiQ9NY72.
PRIDEiQ9NY72.

PTM databases

PhosphoSitePlusiQ9NY72.

Miscellaneous databases

PMAP-CutDBiQ9NY72.

Expressioni

Tissue specificityi

Expressed in the atrium.1 Publication

Gene expression databases

BgeeiENSG00000166257.
CleanExiHS_SCN3B.
ExpressionAtlasiQ9NY72. baseline and differential.
GenevisibleiQ9NY72. HS.

Organism-specific databases

HPAiHPA042518.

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, beta-3 and/or beta-4 subunits. Beta-1 and beta-3 are non-covalently associated with alpha, while beta-2 and beta-4 are covalently linked by disulfide bonds (By similarity).By similarity

GO - Molecular functioni

  • ion channel binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi120912. 70 interactors.
MINTiMINT-4724379.
STRINGi9606.ENSP00000299333.

Structurei

Secondary structure

1215
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi34 – 36Combined sources3
Beta strandi41 – 43Combined sources3
Beta strandi57 – 65Combined sources9
Beta strandi72 – 82Combined sources11
Turni87 – 90Combined sources4
Beta strandi91 – 94Combined sources4
Beta strandi100 – 102Combined sources3
Beta strandi105 – 107Combined sources3
Helixi112 – 114Combined sources3
Beta strandi116 – 125Combined sources10
Beta strandi135 – 145Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4L1DX-ray2.50A/B/C25-145[»]
ProteinModelPortaliQ9NY72.
SMRiQ9NY72.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini32 – 154Ig-like C2-typeAdd BLAST123

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IHF3. Eukaryota.
ENOG4111IPM. LUCA.
GeneTreeiENSGT00390000018560.
HOGENOMiHOG000276881.
HOVERGENiHBG056582.
InParanoidiQ9NY72.
KOiK04847.
OMAiLLIEMVY.
OrthoDBiEOG091G0OF7.
PhylomeDBiQ9NY72.
TreeFamiTF332097.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiView protein in InterPro
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
IPR027098. Na_channel_b1/b3.
IPR027096. Na_channel_b3.
PANTHERiPTHR10546. PTHR10546. 1 hit.
PTHR10546:SF5. PTHR10546:SF5. 1 hit.
PfamiView protein in Pfam
PF07686. V-set. 1 hit.
SMARTiView protein in SMART
SM00409. IG. 1 hit.
SUPFAMiSSF48726. SSF48726. 1 hit.
PROSITEiView protein in PROSITE
PS50835. IG_LIKE. 1 hit.

Sequencei

Sequence statusi: Complete.

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

Q9NY72-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPAFNRLFPL ASLVLIYWVS VCFPVCVEVP SETEAVQGNP MKLRCISCMK
60 70 80 90 100
REEVEATTVV EWFYRPEGGK DFLIYEYRNG HQEVESPFQG RLQWNGSKDL
110 120 130 140 150
QDVSITVLNV TLNDSGLYTC NVSREFEFEA HRPFVKTTRL IPLRVTEEAG
160 170 180 190 200
EDFTSVVSEI MMYILLVFLT LWLLIEMIYC YRKVSKAEEA AQENASDYLA
210
IPSENKENSA VPVEE
Length:215
Mass (Da):24,702
Last modified:October 1, 2000 - v1
Checksum:i70F6C604E9E26662
GO

Sequence cautioni

The sequence BAA86472 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0713146R → K in ATFB16; affects steady-state channel inactivation. 1 PublicationCorresponds to variant dbSNP:rs587777558Ensembl.1
Natural variantiVAR_06252910L → P in BRGDA7 AND ATFB16; results in a decrease in peak sodium current density. 2 PublicationsCorresponds to variant dbSNP:rs121918282Ensembl.1
Natural variantiVAR_06523254V → G Found in a case of idiopathic ventricular fibrillation; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587777555Ensembl.1
Natural variantiVAR_03552189Q → L in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_04992897S → N. Corresponds to variant dbSNP:rs35174956Ensembl.1
Natural variantiVAR_071315130A → V in ATFB16; results in decreased sodium current density. 1 PublicationCorresponds to variant dbSNP:rs587777556Ensembl.1
Natural variantiVAR_071316161M → T in ATFB16; results in a decrease in peak sodium current density. 1 PublicationCorresponds to variant dbSNP:rs587777557Ensembl.1
Natural variantiVAR_035522195A → T in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs375755770Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ243396 mRNA. Translation: CAB76825.1.
AL136589 mRNA. Translation: CAB66524.1.
AB032984 mRNA. Translation: BAA86472.1. Different initiation.
AK314513 mRNA. Translation: BAG37113.1.
DQ677666 Genomic DNA. Translation: ABQ01237.1.
BC117282 mRNA. Translation: AAI17283.1.
BC126265 mRNA. Translation: AAI26266.1.
CCDSiCCDS8442.1.
RefSeqiNP_001035241.1. NM_001040151.1.
NP_060870.1. NM_018400.3.
XP_011541199.1. XM_011542897.1.
UniGeneiHs.4865.

Genome annotation databases

EnsembliENST00000299333; ENSP00000299333; ENSG00000166257.
ENST00000392770; ENSP00000376523; ENSG00000166257.
ENST00000530277; ENSP00000432785; ENSG00000166257.
GeneIDi55800.
KEGGihsa:55800.
UCSCiuc001pza.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSCN3B_HUMAN
AccessioniPrimary (citable) accession number: Q9NY72
Secondary accession number(s): A5H1I5, Q17RL3, Q9ULR2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: August 30, 2017
This is version 156 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families