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Q9NY72

- SCN3B_HUMAN

UniProt

Q9NY72 - SCN3B_HUMAN

Protein

Sodium channel subunit beta-3

Gene

SCN3B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    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

    1. ion channel binding Source: BHF-UCL
    2. sodium channel regulator activity Source: BHF-UCL
    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. atrial cardiac muscle cell action potential Source: BHF-UCL
    2. axon guidance Source: Reactome
    3. cardiac muscle cell action potential involved in contraction Source: BHF-UCL
    4. cardiac muscle contraction Source: BHF-UCL
    5. membrane depolarization Source: BHF-UCL
    6. membrane depolarization during action potential Source: BHF-UCL
    7. membrane depolarization during cardiac muscle cell action potential Source: BHF-UCL
    8. positive regulation of heart rate Source: BHF-UCL
    9. positive regulation of sodium ion transport Source: BHF-UCL
    10. protein localization to plasma membrane Source: BHF-UCL
    11. regulation of atrial cardiac muscle cell membrane depolarization Source: BHF-UCL
    12. regulation of heart rate by cardiac conduction Source: BHF-UCL
    13. regulation of sodium ion transmembrane transporter activity Source: BHF-UCL
    14. regulation of ventricular cardiac muscle cell membrane depolarization Source: BHF-UCL
    15. SA node cell to atrial cardiac muscle cell communication Source: BHF-UCL
    16. sensory perception of pain Source: Ensembl
    17. sodium ion transmembrane transport Source: BHF-UCL
    18. sodium ion transport Source: UniProtKB
    19. ventricular cardiac muscle cell action potential Source: BHF-UCL

    Keywords - Molecular functioni

    Ion channel, Sodium channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Sodium transport, Transport

    Keywords - Ligandi

    Sodium

    Enzyme and pathway databases

    ReactomeiREACT_22266. Interaction between L1 and Ankyrins.

    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
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:20665. SCN3B.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB
    2. plasma membrane Source: LIFEdb
    3. voltage-gated sodium channel complex Source: BHF-UCL
    4. Z disc Source: BHF-UCL

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Brugada syndrome 7 (BRGDA7) [MIM:613120]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101L → P in BRGDA7. 1 Publication
    VAR_062529

    Keywords - Diseasei

    Brugada syndrome, Disease mutation

    Organism-specific databases

    MIMi613120. phenotype.
    Orphaneti130. Brugada syndrome.
    PharmGKBiPA130546912.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222By similarityAdd
    BLAST
    Chaini23 – 215193Sodium channel subunit beta-3PRO_0000014933Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi26 ↔ 48PROSITE-ProRule annotation
    Disulfide bondi45 ↔ 120PROSITE-ProRule annotation
    Glycosylationi95 – 951N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi109 – 1091N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi113 – 1131N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi121 – 1211N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PRIDEiQ9NY72.

    PTM databases

    PhosphoSiteiQ9NY72.

    Miscellaneous databases

    PMAP-CutDBQ9NY72.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NY72.
    BgeeiQ9NY72.
    CleanExiHS_SCN3B.
    GenevestigatoriQ9NY72.

    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

    Protein-protein interaction databases

    BioGridi120912. 1 interaction.
    MINTiMINT-4724379.
    STRINGi9606.ENSP00000299333.

    Structurei

    Secondary structure

    1
    215
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi34 – 363
    Beta strandi41 – 433
    Beta strandi57 – 659
    Beta strandi72 – 8211
    Turni87 – 904
    Beta strandi91 – 944
    Beta strandi100 – 1023
    Beta strandi105 – 1073
    Helixi112 – 1143
    Beta strandi116 – 12510
    Beta strandi135 – 14511

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4L1DX-ray2.50A/B/C25-145[»]
    ProteinModelPortaliQ9NY72.
    SMRiQ9NY72. Positions 25-145.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini23 – 159137ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini181 – 21535CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei160 – 18021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini32 – 154123Ig-like C2-typeAdd
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG40812.
    HOGENOMiHOG000276881.
    HOVERGENiHBG056582.
    InParanoidiQ9NY72.
    KOiK04847.
    OMAiLLIEMVY.
    OrthoDBiEOG7M3J19.
    PhylomeDBiQ9NY72.
    TreeFamiTF332097.

    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.
    IPR027098. Na_channel_b1/b3.
    IPR027096. Na_channel_b3.
    [Graphical view]
    PANTHERiPTHR10546. PTHR10546. 1 hit.
    PTHR10546:SF1. PTHR10546:SF1. 1 hit.
    PfamiPF07686. V-set. 1 hit.
    [Graphical view]
    SMARTiSM00409. IG. 1 hit.
    [Graphical view]
    PROSITEiPS50835. IG_LIKE. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q9NY72-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPAFNRLFPL ASLVLIYWVS VCFPVCVEVP SETEAVQGNP MKLRCISCMK    50
    REEVEATTVV EWFYRPEGGK DFLIYEYRNG HQEVESPFQG RLQWNGSKDL 100
    QDVSITVLNV TLNDSGLYTC NVSREFEFEA HRPFVKTTRL IPLRVTEEAG 150
    EDFTSVVSEI MMYILLVFLT LWLLIEMIYC YRKVSKAEEA AQENASDYLA 200
    IPSENKENSA VPVEE 215
    Length:215
    Mass (Da):24,702
    Last modified:October 1, 2000 - v1
    Checksum:i70F6C604E9E26662
    GO

    Sequence cautioni

    The sequence BAA86472.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101L → P in BRGDA7. 1 Publication
    VAR_062529
    Natural varianti54 – 541V → G Found in a case of idiopathic ventricular fibrillation. 1 Publication
    VAR_065232
    Natural varianti89 – 891Q → L in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035521
    Natural varianti97 – 971S → N.
    Corresponds to variant rs35174956 [ dbSNP | Ensembl ].
    VAR_049928
    Natural varianti195 – 1951A → T in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035522

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_006718945.1. XM_006718882.1.
    UniGeneiHs.4865.

    Genome annotation databases

    EnsembliENST00000299333; ENSP00000299333; ENSG00000166257.
    ENST00000392770; ENSP00000376523; ENSG00000166257.
    ENST00000530277; ENSP00000432785; ENSG00000166257.
    GeneIDi55800.
    KEGGihsa:55800.
    UCSCiuc001pza.1. human.

    Polymorphism databases

    DMDMi12229762.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS8442.1.
    RefSeqi NP_001035241.1. NM_001040151.1.
    NP_060870.1. NM_018400.3.
    XP_006718945.1. XM_006718882.1.
    UniGenei Hs.4865.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4L1D X-ray 2.50 A/B/C 25-145 [» ]
    ProteinModelPortali Q9NY72.
    SMRi Q9NY72. Positions 25-145.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120912. 1 interaction.
    MINTi MINT-4724379.
    STRINGi 9606.ENSP00000299333.

    Chemistry

    BindingDBi Q9NY72.

    PTM databases

    PhosphoSitei Q9NY72.

    Polymorphism databases

    DMDMi 12229762.

    Proteomic databases

    PRIDEi Q9NY72.

    Protocols and materials databases

    DNASUi 55800.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000299333 ; ENSP00000299333 ; ENSG00000166257 .
    ENST00000392770 ; ENSP00000376523 ; ENSG00000166257 .
    ENST00000530277 ; ENSP00000432785 ; ENSG00000166257 .
    GeneIDi 55800.
    KEGGi hsa:55800.
    UCSCi uc001pza.1. human.

    Organism-specific databases

    CTDi 55800.
    GeneCardsi GC11M123533.
    GeneReviewsi SCN3B.
    HGNCi HGNC:20665. SCN3B.
    HPAi HPA042518.
    MIMi 608214. gene.
    613120. phenotype.
    neXtProti NX_Q9NY72.
    Orphaneti 130. Brugada syndrome.
    PharmGKBi PA130546912.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG40812.
    HOGENOMi HOG000276881.
    HOVERGENi HBG056582.
    InParanoidi Q9NY72.
    KOi K04847.
    OMAi LLIEMVY.
    OrthoDBi EOG7M3J19.
    PhylomeDBi Q9NY72.
    TreeFami TF332097.

    Enzyme and pathway databases

    Reactomei REACT_22266. Interaction between L1 and Ankyrins.

    Miscellaneous databases

    GeneWikii SCN3B.
    GenomeRNAii 55800.
    NextBioi 60937.
    PMAP-CutDB Q9NY72.
    PROi Q9NY72.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NY72.
    Bgeei Q9NY72.
    CleanExi HS_SCN3B.
    Genevestigatori Q9NY72.

    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.
    IPR027098. Na_channel_b1/b3.
    IPR027096. Na_channel_b3.
    [Graphical view ]
    PANTHERi PTHR10546. PTHR10546. 1 hit.
    PTHR10546:SF1. PTHR10546:SF1. 1 hit.
    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. "Beta3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics."
      Morgan K., Stevens E.B., Shaw B., Cox P., Dixon A.K., Lee K., Pinnock R.D., Highes J., Richardson P.J., Mizuguchi K., Jackson A.P.
      Proc. Natl. Acad. Sci. U.S.A. 97:2308-2313(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Brain.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Amygdala.
    3. "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain."
      Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.
      DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    5. NHLBI resequencing and genotyping service (RS&G)
      Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    6. "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: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    7. Cited for: VARIANTS [LARGE SCALE ANALYSIS] LEU-89 AND THR-195.
    8. "A mutation in the beta-3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype."
      Hu D., Barajas-Martinez H., Burashnikov E., Springer M., Wu Y., Varro A., Pfeiffer R., Koopmann T.T., Cordeiro J.M., Guerchicoff A., Pollevick G.D., Antzelevitch C.
      Circ. Cardiovasc. Genet. 2:270-278(2009)
      Cited for: VARIANT BRGDA7 PRO-10.
    9. "Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation."
      Valdivia C.R., Medeiros-Domingo A., Ye B., Shen W.K., Algiers T.J., Ackerman M.J., Makielski J.C.
      Cardiovasc. Res. 86:392-400(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLY-54.

    Entry informationi

    Entry nameiSCN3B_HUMAN
    AccessioniPrimary (citable) accession number: Q9NY72
    Secondary accession number(s): A5H1I5, Q17RL3, Q9ULR2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 11, 2001
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 133 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