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Q8IWT1

- SCN4B_HUMAN

UniProt

Q8IWT1 - SCN4B_HUMAN

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Protein

Sodium channel subunit beta-4

Gene
SCN4B
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Modulates channel gating kinetics. Causes negative shifts in the voltage dependence of activation of certain alpha sodium channels, but does not affect the voltage dependence of inactivation. Modulates the suceptibility of the sodium channel to inhibition by toxic peptides from spider, scorpion, wasp and sea anemone venom.1 Publication

GO - Molecular functioni

  1. ion channel binding Source: BHF-UCL
  2. sodium channel regulator activity Source: UniProtKB
  3. voltage-gated sodium channel activity Source: UniProtKB
  4. voltage-gated sodium channel activity involved in cardiac muscle cell action potential Source: BHF-UCL

GO - Biological processi

  1. AV node cell to bundle of His cell communication Source: BHF-UCL
  2. cardiac muscle cell action potential involved in contraction Source: BHF-UCL
  3. cardiac muscle contraction Source: BHF-UCL
  4. membrane depolarization during cardiac muscle cell action potential Source: BHF-UCL
  5. positive regulation of sodium ion transport Source: BHF-UCL
  6. regulation of heart rate by cardiac conduction Source: BHF-UCL
  7. regulation of sodium ion transmembrane transporter activity Source: UniProtKB
  8. regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
  9. sodium ion transmembrane transport Source: BHF-UCL
  10. sodium ion transport Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Sodium transport, Transport

Keywords - Ligandi

Sodium

Protein family/group databases

TCDBi8.A.17.2.2. the na(+) channel auxiliary subunit 1-4 (sca-) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium channel subunit beta-4
Gene namesi
Name:SCN4B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:10592. SCN4B.

Subcellular locationi

Cell membrane; Single-pass type I membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini31 – 162132Extracellular Reviewed predictionAdd
BLAST
Transmembranei163 – 18321Helical; Reviewed predictionAdd
BLAST
Topological domaini184 – 22845Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. intercalated disc Source: BHF-UCL
  2. intrinsic component of plasma membrane Source: UniProtKB
  3. voltage-gated sodium channel complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Long QT syndrome 10 (LQT10) [MIM:611819]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti179 – 1791L → F in LQT10; increase in late sodium current. 1 Publication
VAR_043488

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi58 – 581C → A: Abolishes regulation of channel activity. 1 Publication
Mutagenesisi131 – 1311C → A or W: Decreases protein stability. Causes conformation changes that impair interaction with the alpha subunit. 1 Publication

Keywords - Diseasei

Disease mutation, Long QT syndrome

Organism-specific databases

MIMi611819. phenotype.
Orphaneti101016. Romano-Ward syndrome.
PharmGKBiPA35007.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3030 Reviewed predictionAdd
BLAST
Chaini31 – 228198Sodium channel subunit beta-4PRO_0000014937Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi45 – 451N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi53 ↔ 1311 Publication
Disulfide bondi58 – 58Interchain; with alpha subunit1 Publication
Glycosylationi71 – 711N-linked (GlcNAc...) Reviewed prediction
Glycosylationi113 – 1131N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

Contains an interchain disulfide bond with SCN2A.
N-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ8IWT1.
PRIDEiQ8IWT1.

PTM databases

PhosphoSiteiQ8IWT1.

Miscellaneous databases

PMAP-CutDBQ8IWT1.

Expressioni

Tissue specificityi

Expressed at a high level in dorsal root ganglia, at a lower level in brain, spinal cord, skeletal muscle and heart.1 Publication

Gene expression databases

ArrayExpressiQ8IWT1.
BgeeiQ8IWT1.
CleanExiHS_SCN4B.
GenevestigatoriQ8IWT1.

Organism-specific databases

HPAiHPA017293.

Interactioni

Subunit structurei

Component of the voltage-sensitive sodium channel complex that consists of an ion-conducting pore-forming alpha subunit and one or more regulatory beta subunits. Heterooligomer with SCN2A; disulfide-linked.1 Publication

Protein-protein interaction databases

BioGridi112235. 1 interaction.
STRINGi9606.ENSP00000322460.

Structurei

Secondary structure

1
228
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi40 – 445
Beta strandi49 – 513
Turni58 – 603
Beta strandi62 – 7110
Beta strandi76 – 8611
Beta strandi92 – 965
Beta strandi101 – 1033
Beta strandi116 – 1183
Helixi123 – 1253
Beta strandi127 – 1359
Helixi136 – 1383
Beta strandi140 – 1434
Beta strandi147 – 1526

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4MZ2X-ray1.72A32-157[»]
4MZ3X-ray1.74A/B32-157[»]
ProteinModelPortaliQ8IWT1.
SMRiQ8IWT1. Positions 36-155.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini31 – 148118Ig-like C2-typeAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG46712.
HOGENOMiHOG000048715.
HOVERGENiHBG056581.
InParanoidiQ8IWT1.
KOiK04848.
OMAiREKKKEC.
OrthoDBiEOG7WT42T.
PhylomeDBiQ8IWT1.
TreeFamiTF331728.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
[Graphical view]
PfamiPF07686. V-set. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
[Graphical view]
PROSITEiPS50835. IG_LIKE. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8IWT1-1) [UniParc]FASTAAdd to Basket

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

MPGAGDGGKA PARWLGTGLL GLFLLPVTLS LEVSVGKATD IYAVNGTEIL    50
LPCTFSSCFG FEDLHFRWTY NSSDAFKILI EGTVKNEKSD PKVTLKDDDR 100
ITLVGSTKEK MNNISIVLRD LEFSDTGKYT CHVKNPKENN LQHHATIFLQ 150
VVDRLEEVDN TVTLIILAVV GGVIGLLILI LLIKKLIIFI LKKTREKKKE 200
CLVSSSGNDN TENGLPGSKA EEKPPSKV 228
Length:228
Mass (Da):24,969
Last modified:March 1, 2003 - v1
Checksum:i2F17E1210E8EFEF8
GO
Isoform 2 (identifier: Q8IWT1-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-110: Missing.

Note: No experimental confirmation available.

Show »
Length:118
Mass (Da):13,104
Checksum:i171185D98FAB28ED
GO
Isoform 3 (identifier: Q8IWT1-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     21-155: GLFLLPVTLS...TIFLQVVDRL → V

Note: Gene prediction based on EST data.

Show »
Length:94
Mass (Da):9,876
Checksum:i5E474827FFA2FA01
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti179 – 1791L → F in LQT10; increase in late sodium current. 1 Publication
VAR_043488

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 110110Missing in isoform 2. VSP_053913Add
BLAST
Alternative sequencei21 – 155135GLFLL…VVDRL → V in isoform 3. VSP_046971Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti40 – 401D → Y in AAH35017. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY149967 mRNA. Translation: AAN74584.1.
AP002800 Genomic DNA. No translation available.
BC035017 mRNA. Translation: AAH35017.1.
CCDSiCCDS44744.1. [Q8IWT1-3]
CCDS8389.1. [Q8IWT1-1]
RefSeqiNP_001135820.1. NM_001142348.1. [Q8IWT1-3]
NP_001135821.1. NM_001142349.1. [Q8IWT1-2]
NP_777594.1. NM_174934.3. [Q8IWT1-1]
UniGeneiHs.65239.

Genome annotation databases

EnsembliENST00000324727; ENSP00000322460; ENSG00000177098. [Q8IWT1-1]
ENST00000529878; ENSP00000436343; ENSG00000177098. [Q8IWT1-3]
GeneIDi6330.
KEGGihsa:6330.
UCSCiuc001pse.3. human. [Q8IWT1-1]

Polymorphism databases

DMDMi57012701.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY149967 mRNA. Translation: AAN74584.1 .
AP002800 Genomic DNA. No translation available.
BC035017 mRNA. Translation: AAH35017.1 .
CCDSi CCDS44744.1. [Q8IWT1-3 ]
CCDS8389.1. [Q8IWT1-1 ]
RefSeqi NP_001135820.1. NM_001142348.1. [Q8IWT1-3 ]
NP_001135821.1. NM_001142349.1. [Q8IWT1-2 ]
NP_777594.1. NM_174934.3. [Q8IWT1-1 ]
UniGenei Hs.65239.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4MZ2 X-ray 1.72 A 32-157 [» ]
4MZ3 X-ray 1.74 A/B 32-157 [» ]
ProteinModelPortali Q8IWT1.
SMRi Q8IWT1. Positions 36-155.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112235. 1 interaction.
STRINGi 9606.ENSP00000322460.

Chemistry

BindingDBi Q8IWT1.

Protein family/group databases

TCDBi 8.A.17.2.2. the na(+) channel auxiliary subunit 1-4 (sca-) family.

PTM databases

PhosphoSitei Q8IWT1.

Polymorphism databases

DMDMi 57012701.

Proteomic databases

PaxDbi Q8IWT1.
PRIDEi Q8IWT1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000324727 ; ENSP00000322460 ; ENSG00000177098 . [Q8IWT1-1 ]
ENST00000529878 ; ENSP00000436343 ; ENSG00000177098 . [Q8IWT1-3 ]
GeneIDi 6330.
KEGGi hsa:6330.
UCSCi uc001pse.3. human. [Q8IWT1-1 ]

Organism-specific databases

CTDi 6330.
GeneCardsi GC11M118004.
GeneReviewsi SCN4B.
HGNCi HGNC:10592. SCN4B.
HPAi HPA017293.
MIMi 608256. gene.
611819. phenotype.
neXtProti NX_Q8IWT1.
Orphaneti 101016. Romano-Ward syndrome.
PharmGKBi PA35007.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG46712.
HOGENOMi HOG000048715.
HOVERGENi HBG056581.
InParanoidi Q8IWT1.
KOi K04848.
OMAi REKKKEC.
OrthoDBi EOG7WT42T.
PhylomeDBi Q8IWT1.
TreeFami TF331728.

Miscellaneous databases

GeneWikii SCN4B.
GenomeRNAii 6330.
NextBioi 24574.
PMAP-CutDB Q8IWT1.
PROi Q8IWT1.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8IWT1.
Bgeei Q8IWT1.
CleanExi HS_SCN4B.
Genevestigatori Q8IWT1.

Family and domain databases

Gene3Di 2.60.40.10. 1 hit.
InterProi IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
[Graphical view ]
Pfami PF07686. V-set. 1 hit.
[Graphical view ]
SMARTi SM00409. IG. 1 hit.
[Graphical view ]
PROSITEi PS50835. IG_LIKE. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Sodium channel beta4, a new disulfide-linked auxiliary subunit with similarity to beta2."
    Yu F.H., Westenbroek R.E., Silos-Santiago I., McCormick K.A., Lawson D., Ge P., Ferriera H., Lilly J., DiStefano P.S., Catterall W.A., Scheuer T., Curtis R.
    J. Neurosci. 23:7577-7585(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  4. "Crystallographic insights into sodium-channel modulation by the beta4 subunit."
    Gilchrist J., Das S., Van Petegem F., Bosmans F.
    Proc. Natl. Acad. Sci. U.S.A. 110:E5016-E5024(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.72 ANGSTROMS) OF 32-157, FUNCTION, SUBCELLULAR LOCATION, SUBUNIT, DISULFIDE BOND, GLYCOSYLATION, INTERACTION WITH SCN2A, MUTAGENESIS OF CYS-58 AND CYS-131.
  5. Cited for: VARIANT LQT10 PHE-179, CHARACTERIZATION OF VARIANT LQT10 PHE-179.

Entry informationi

Entry nameiSCN4B_HUMAN
AccessioniPrimary (citable) accession number: Q8IWT1
Secondary accession number(s): E9PPT5, Q6PIG5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 4, 2005
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 103 of the entry and version 1 of the sequence. [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

External Data

Dasty 3

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