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Q07699

- SCN1B_HUMAN

UniProt

Q07699 - SCN1B_HUMAN

Protein

Sodium channel subunit beta-1

Gene

SCN1B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
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    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 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.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

    1. sodium channel inhibitor activity Source: BHF-UCL
    2. sodium channel regulator activity Source: BHF-UCL
    3. voltage-gated sodium channel activity Source: BHF-UCL
    4. voltage-gated sodium channel activity involved in cardiac muscle cell action potential Source: BHF-UCL
    5. voltage-gated sodium channel activity involved in Purkinje myocyte action potential Source: BHF-UCL

    GO - Biological processi

    1. axon guidance Source: BHF-UCL
    2. cardiac conduction Source: BHF-UCL
    3. cardiac muscle cell action potential involved in contraction Source: BHF-UCL
    4. cardiac muscle contraction Source: BHF-UCL
    5. cell adhesion Source: UniProtKB-KW
    6. corticospinal neuron axon guidance Source: BHF-UCL
    7. locomotion Source: BHF-UCL
    8. membrane depolarization Source: BHF-UCL
    9. membrane depolarization during cardiac muscle cell action potential Source: BHF-UCL
    10. membrane depolarization during Purkinje myocyte cell action potential Source: BHF-UCL
    11. neuronal action potential propagation Source: BHF-UCL
    12. positive regulation of neuron projection development Source: BHF-UCL
    13. positive regulation of sodium ion transport Source: BHF-UCL
    14. regulation of atrial cardiac muscle cell membrane depolarization Source: BHF-UCL
    15. regulation of heart rate by cardiac conduction Source: BHF-UCL
    16. regulation of sodium ion transmembrane transporter activity Source: BHF-UCL
    17. regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
    18. response to pyrethroid Source: Ensembl
    19. sodium ion transmembrane transport Source: BHF-UCL
    20. synaptic transmission Source: ProtInc

    Keywords - Molecular functioni

    Ion channel, Sodium channel, Voltage-gated channel

    Keywords - Biological processi

    Cell adhesion, 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-1
    Gene namesi
    Name:SCN1B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:10586. SCN1B.

    Subcellular locationi

    Isoform 2 : Secreted 1 Publication

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB-SubCell
    2. intercalated disc Source: BHF-UCL
    3. node of Ranvier Source: BHF-UCL
    4. T-tubule Source: BHF-UCL
    5. voltage-gated sodium channel complex Source: BHF-UCL

    Keywords - Cellular componenti

    Membrane, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Generalized epilepsy with febrile seizures plus 1 (GEFS+1) [MIM:604233]: A 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti121 – 1211C → W in GEFS+1. 1 Publication
    Corresponds to variant rs104894718 [ dbSNP | Ensembl ].
    VAR_010165
    Natural varianti125 – 1251R → L in GEFS+1. 1 Publication
    VAR_067341
    Brugada syndrome 5 (BRGDA5) [MIM:612838]: 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.
    Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti85 – 851R → 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 Publication
    VAR_070219
    Natural varianti153 – 1531D → N in ATFB13; the mutant results in reduced sodium currents when coexpressed with SCN5A in a heterologous expression system. 1 Publication
    VAR_070220

    Keywords - Diseasei

    Atrial fibrillation, Brugada syndrome, Disease mutation, Epilepsy

    Organism-specific databases

    MIMi604233. phenotype.
    612838. phenotype.
    615377. phenotype.
    Orphaneti130. Brugada syndrome.
    33069. Dravet syndrome.
    334. Familial atrial fibrillation.
    871. Familial progressive cardiac conduction defect.
    36387. Generalized epilepsy with febrile seizures-plus context.
    PharmGKBiPA302.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1818Sequence AnalysisAdd
    BLAST
    Chaini19 – 218200Sodium channel subunit beta-1PRO_0000014926Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi40 ↔ 121By similarity
    Glycosylationi93 – 931N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi110 – 1101N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi114 – 1141N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi135 – 1351N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ07699.
    PRIDEiQ07699.

    PTM databases

    PhosphoSiteiQ07699.

    Miscellaneous databases

    PMAP-CutDBQ07699.

    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

    ArrayExpressiQ07699.
    BgeeiQ07699.
    CleanExiHS_SCN1B.
    GenevestigatoriQ07699.

    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 neurofascin. Associates with SCN10A By similarity.By similarity

    Protein-protein interaction databases

    BioGridi112229. 1 interaction.
    STRINGi9606.ENSP00000396915.

    Structurei

    3D structure databases

    ProteinModelPortaliQ07699.
    SMRiQ07699. Positions 21-128.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini19 – 160142ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini183 – 21836CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei161 – 18222HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini22 – 150129Ig-like C2-typeAdd
    BLAST

    Sequence similaritiesi

    Keywords - Domaini

    Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG45207.
    HOGENOMiHOG000276881.
    HOVERGENiHBG056582.
    InParanoidiQ07699.
    KOiK04845.
    OMAiERIGNGP.
    OrthoDBiEOG7M3J19.
    PhylomeDBiQ07699.
    TreeFamiTF332097.

    Family and domain databases

    Gene3Di2.60.40.10. 1 hit.
    InterProiIPR013783. Ig-like_fold.
    IPR013151. Immunoglobulin.
    IPR027098. Na_channel_b1/b3.
    [Graphical view]
    PANTHERiPTHR10546. PTHR10546. 1 hit.
    PfamiPF00047. ig. 1 hit.
    [Graphical view]

    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. Align

    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

    MGRLLALVVG AALVSSACGG CVEVDSETEA VYGMTFKILC ISCKRRSETN    50
    AETFTEWTFR QKGTEEFVKI LRYENEVLQL EEDERFEGRV VWNGSRGTKD 100
    LQDLSIFITN VTYNHSGDYE CHVYRLLFFE NYEHNTSVVK KIHIEVVDKA 150
    NRDMASIVSE IMMYVLIVVL TIWLVAEMIY CYKKIAAATE TAAQENASEY 200
    LAITSESKEN CTGVQVAE 218
    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)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti25 – 251D → N in a patient with idiopathic epilepsy. 1 Publication
    VAR_062523
    Natural varianti85 – 851R → 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 Publication
    VAR_070219
    Natural varianti87 – 871E → Q in a patient presenting with palpitations and complete left bundle branch block on electrocardiogram. 1 Publication
    VAR_062524
    Natural varianti121 – 1211C → W in GEFS+1. 1 Publication
    Corresponds to variant rs104894718 [ dbSNP | Ensembl ].
    VAR_010165
    Natural varianti125 – 1251R → L in GEFS+1. 1 Publication
    VAR_067341
    Natural varianti138 – 1381V → I.1 Publication
    Corresponds to variant rs72558029 [ dbSNP | Ensembl ].
    VAR_062525
    Natural varianti153 – 1531D → N in ATFB13; the mutant results in reduced sodium currents when coexpressed with SCN5A in a heterologous expression system. 1 Publication
    VAR_070220
    Natural varianti208 – 2081K → I.1 Publication
    VAR_062526
    Natural varianti211 – 2111C → Y.1 Publication
    Corresponds to variant rs150721582 [ dbSNP | Ensembl ].
    VAR_062527
    Natural varianti213 – 2131G → D.1 Publication
    Corresponds to variant rs201209882 [ dbSNP | Ensembl ].
    VAR_062528

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei150 – 21869ANRDM…VQVAE → GESGAACPFTVTHRRARWRD RWQAVDRTGWLCAWPANRPQ QRAEGEGSSPSCPLQLWPLF LSSPRRGQSMPVPHRRSGYR TQLCHLCCMTSGRCLLSLSQ RVVLGLPGIIIRCVSRGVV in isoform 2. 1 PublicationVSP_041982Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_950238.1. NM_199037.3. [Q07699-2]
    UniGeneiHs.436646.

    Genome annotation databases

    EnsembliENST00000262631; ENSP00000262631; ENSG00000105711. [Q07699-1]
    ENST00000415950; ENSP00000396915; ENSG00000105711. [Q07699-2]
    GeneIDi6324.
    KEGGihsa:6324.
    UCSCiuc002nxo.2. human. [Q07699-2]
    uc002nxp.3. human. [Q07699-1]

    Polymorphism databases

    DMDMi1705868.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS12441.1. [Q07699-1 ]
    CCDS46047.1. [Q07699-2 ]
    PIRi A55734.
    RefSeqi NP_001028.1. NM_001037.4. [Q07699-1 ]
    NP_950238.1. NM_199037.3. [Q07699-2 ]
    UniGenei Hs.436646.

    3D structure databases

    ProteinModelPortali Q07699.
    SMRi Q07699. Positions 21-128.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112229. 1 interaction.
    STRINGi 9606.ENSP00000396915.

    Chemistry

    BindingDBi Q07699.

    PTM databases

    PhosphoSitei Q07699.

    Polymorphism databases

    DMDMi 1705868.

    Proteomic databases

    PaxDbi Q07699.
    PRIDEi Q07699.

    Protocols and materials databases

    DNASUi 6324.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262631 ; ENSP00000262631 ; ENSG00000105711 . [Q07699-1 ]
    ENST00000415950 ; ENSP00000396915 ; ENSG00000105711 . [Q07699-2 ]
    GeneIDi 6324.
    KEGGi hsa:6324.
    UCSCi uc002nxo.2. human. [Q07699-2 ]
    uc002nxp.3. human. [Q07699-1 ]

    Organism-specific databases

    CTDi 6324.
    GeneCardsi GC19P035521.
    GeneReviewsi SCN1B.
    HGNCi HGNC:10586. SCN1B.
    MIMi 600235. gene.
    604233. phenotype.
    612838. phenotype.
    615377. phenotype.
    neXtProti NX_Q07699.
    Orphaneti 130. Brugada syndrome.
    33069. Dravet syndrome.
    334. Familial atrial fibrillation.
    871. Familial progressive cardiac conduction defect.
    36387. Generalized epilepsy with febrile seizures-plus context.
    PharmGKBi PA302.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45207.
    HOGENOMi HOG000276881.
    HOVERGENi HBG056582.
    InParanoidi Q07699.
    KOi K04845.
    OMAi ERIGNGP.
    OrthoDBi EOG7M3J19.
    PhylomeDBi Q07699.
    TreeFami TF332097.

    Enzyme and pathway databases

    Reactomei REACT_22266. Interaction between L1 and Ankyrins.

    Miscellaneous databases

    GeneWikii SCN1B.
    GenomeRNAii 6324.
    NextBioi 24542.
    PMAP-CutDB Q07699.
    PROi Q07699.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q07699.
    Bgeei Q07699.
    CleanExi HS_SCN1B.
    Genevestigatori Q07699.

    Family and domain databases

    Gene3Di 2.60.40.10. 1 hit.
    InterProi IPR013783. Ig-like_fold.
    IPR013151. Immunoglobulin.
    IPR027098. Na_channel_b1/b3.
    [Graphical view ]
    PANTHERi PTHR10546. PTHR10546. 1 hit.
    Pfami PF00047. ig. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain."
      McClatchey A.I., Cannon S.C., Slaugenhaupt S.A., Gusella J.F.
      Hum. Mol. Genet. 2:745-749(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. "Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene."
      Makita N., Bennett P.B. Jr., George A.L. Jr.
      J. Biol. Chem. 269:7571-7578(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Heart and Skeletal muscle.
    3. "Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B)."
      Makita N., Sloan-Brown K., Weghuis D.O., Ropers H.-H., George A.L. Jr.
      Genomics 23:628-634(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Placenta.
    4. "Molecular cloning and functional expression of the human sodium channel beta1B subunit, a novel splicing variant of the beta1 subunit."
      Qin N., D'Andrea M.R., Lubin M.L., Shafaee N., Codd E.E., Correa A.M.
      Eur. J. Biochem. 270:4762-4770(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, TISSUE SPECIFICITY.
    5. "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] (ISOFORM 1).
      Tissue: Skeletal muscle.
    6. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    7. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. NHLBI resequencing and genotyping service (RS&G)
      Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    9. "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] (ISOFORM 1).
      Tissue: Brain.
    10. Cited for: INVOLVEMENT IN BRGDA5, VARIANT GLN-87.
    11. "Voltage-gated Na+ channel beta1B: a secreted cell adhesion molecule involved in human epilepsy."
      Patino G.A., Brackenbury W.J., Bao Y., Lopez-Santiago L.F., O'Malley H.A., Chen C., Calhoun J.D., Lafreniere R.G., Cossette P., Rouleau G.A., Isom L.L.
      J. Neurosci. 31:14577-14591(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION (ISOFORM 2), SUBCELLULAR LOCATION (ISOFORM 2).
    12. "Febrile seizures and generalized epilepsy associated with a mutation in the Na(+)-channel beta-1 subunit gene SCN1B."
      Wallace R.H., Wang D.W., Singh R., Scheffer I.E., George A.L. Jr., Phillips H.A., Saar K., Reis A., Johnson E.W., Sutherland G.R., Berkovic S.F., Mulley J.C.
      Nat. Genet. 19:366-370(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GEFS+1 TRP-121.
    13. "Mutations in sodium channel beta1- and beta2-subunits associated with atrial fibrillation."
      Watanabe H., Darbar D., Kaiser D.W., Jiramongkolchai K., Chopra S., Donahue B.S., Kannankeril P.J., Roden D.M.
      Circ. Arrhythm. Electrophysiol. 2:268-275(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ATFB13 HIS-85 AND ASN-153, CHARACTERIZATION OF VARIANTS ATFB13 HIS-85 AND ASN-153.
    14. "Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies."
      Orrico A., Galli L., Grosso S., Buoni S., Pianigiani R., Balestri P., Sorrentino V.
      Clin. Genet. 75:579-581(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ASN-25; ILE-138; ILE-208; TYR-211 AND ASP-213.
    15. "New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures."
      Fendri-Kriaa N., Kammoun F., Salem I.H., Kifagi C., Mkaouar-Rebai E., Hsairi I., Rebai A., Triki C., Fakhfakh F.
      Eur. J. Neurol. 18:695-702(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GEFS+1 LEU-125.

    Entry informationi

    Entry nameiSCN1B_HUMAN
    AccessioniPrimary (citable) accession number: Q07699
    Secondary accession number(s): Q5TZZ4, Q6TN97
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: October 1, 1996
    Last modified: October 1, 2014
    This is version 144 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

    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

    External Data

    Dasty 3