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Q8IWT1

- SCN4B_HUMAN

UniProt

Q8IWT1 - SCN4B_HUMAN

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
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    • History
      Entry version 104 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    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

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

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 3030Sequence AnalysisAdd
    BLAST
    Chaini31 – 228198Sodium channel subunit beta-4PRO_0000014937Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi45 – 451N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi53 ↔ 1311 PublicationPROSITE-ProRule annotation
    Disulfide bondi58 – 58Interchain; with alpha subunit1 PublicationPROSITE-ProRule annotation
    Glycosylationi71 – 711N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi113 – 1131N-linked (GlcNAc...)Sequence Analysis

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini31 – 162132ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini184 – 22845CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei163 – 18321HelicalSequence AnalysisAdd
    BLAST

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti40 – 401D → Y in AAH35017. (PubMed:15489334)Curated

    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. CuratedVSP_053913Add
    BLAST
    Alternative sequencei21 – 155135GLFLL…VVDRL → V in isoform 3. CuratedVSP_046971Add
    BLAST

    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

    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: October 1, 2014
    This is version 104 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