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Q9WTU3

- SCN8A_MOUSE

UniProt

Q9WTU3 - SCN8A_MOUSE

Protein

Sodium channel protein type 8 subunit alpha

Gene

Scn8a

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 1 (01 Nov 1999)
      Previous versions | rss
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    Functioni

    Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient. In macrophages, isoform 5 may participate in the control of podosome and invadopodia formation.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi891 – 8988ATPSequence Analysis

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. protein binding Source: IntAct
    3. voltage-gated sodium channel activity Source: UniProtKB

    GO - Biological processi

    1. adult locomotory behavior Source: MGI
    2. adult walking behavior Source: MGI
    3. locomotory behavior Source: MGI
    4. membrane depolarization during action potential Source: RefGenome
    5. muscle organ development Source: MGI
    6. neuromuscular process Source: MGI
    7. neuronal action potential Source: RefGenome
    8. response to toxic substance Source: MGI
    9. sensory perception of sound Source: MGI
    10. sodium ion transmembrane transport Source: GOC
    11. 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

    ATP-binding, Nucleotide-binding, Sodium

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sodium channel protein type 8 subunit alpha
    Alternative name(s):
    Sodium channel protein type VIII subunit alpha
    Voltage-gated sodium channel subunit alpha Nav1.6
    Gene namesi
    Name:Scn8a
    Synonyms:Nbna1
    OrganismiMus musculus (Mouse)Imported
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Unplaced

    Organism-specific databases

    MGIiMGI:103169. Scn8a.

    Subcellular locationi

    Membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. dendrite Source: MGI
    2. membrane Source: MGI
    3. neuronal cell body Source: MGI
    4. node of Ranvier Source: BHF-UCL
    5. plasma membrane Source: RefGenome
    6. sodium channel complex Source: MGI
    7. voltage-gated sodium channel complex Source: UniProtKB
    8. Z disc Source: BHF-UCL

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Defects in Scn8a are the cause of motor endplate disease (med). Med is a recessive neuromuscular disorder that is characterized by lack of signal transmission at the neuromuscular junction, excess preterminal arborization and degeneration of cerebellar Purkinje cells. It produces early onset progressive paralysis of hind limbs, severe muscle atrophy and juvenile lethality.
    Defects in Scn8a are the cause of the jolting mutant (medjo), a mild form of motor endplate disease which is characterized by the absence of spontaneous, regular, simple discharges from Purkinje cells. After 3 weeks of age, jolting mice are unsteady and have wide-based gait and a rhythmical tremor of head and neck induced by attempted movement.
    Defects in Scn8a are a cause of degenerating muscle (dmu). Dmu is an autosomal recessive neuromuscular disorder that is characterized by skeletal and cardiac muscle degeneration. It produces early onset progressive loss of mobility of the hind limbs and subsequent lethality in the first month of life.

    Keywords - Diseasei

    Disease mutation

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 19781978Sodium channel protein type 8 subunit alphaPRO_0000048501Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi215 – 2151N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi289 – 2891N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi295 – 2951N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi308 – 3081N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi326 – 3261N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1356 – 13561N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1370 – 13701N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1381 – 13811N-linked (GlcNAc...)Sequence Analysis
    Modified residuei1495 – 14951Phosphoserine; by PKCBy similarity

    Post-translational modificationi

    May be ubiquitinated by NEDD4L; which would promote its endocytosis.By similarity
    Phosphorylation at Ser-1495 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.By similarity

    Keywords - PTMi

    Glycoprotein, Phosphoprotein, Ubl conjugation

    Proteomic databases

    PaxDbiQ9WTU3.
    PRIDEiQ9WTU3.

    PTM databases

    PhosphoSiteiQ9WTU3.

    Expressioni

    Tissue specificityi

    Expressed in brain, cerebellum and spinal cord. Isoform 5 may be expressed in non-neuronal tissues, such as peritoneal macrophages.2 Publications

    Gene expression databases

    CleanExiMM_SCN8A.
    GenevestigatoriQ9WTU3.

    Interactioni

    Subunit structurei

    Interacts with FGF13; may regulate SCN8A activity By similarity. Interacts with NEDD4 and NEDD4L.By similarity1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Map1bP148737EBI-6396042,EBI-764653

    Protein-protein interaction databases

    BioGridi203103. 3 interactions.
    IntActiQ9WTU3. 1 interaction.
    STRINGi10090.ENSMUSP00000080842.

    Structurei

    Secondary structure

    1
    1978
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi1893 – 191220

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3WFNX-ray1.95B/C/D/E1893-1914[»]
    ProteinModelPortaliQ9WTU3.
    SMRiQ9WTU3. Positions 128-273, 761-975, 1186-1463, 1513-1913.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 127127CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini152 – 1598ExtracellularSequence Analysis
    Topological domaini180 – 19213CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini212 – 2176ExtracellularSequence Analysis
    Topological domaini238 – 25215CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini278 – 387110ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini414 – 745332CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini771 – 78111ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini806 – 8138CytoplasmicSequence Analysis
    Topological domaini834 – 8396ExtracellularSequence Analysis
    Topological domaini861 – 87515CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini897 – 94953ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini976 – 1191216CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1216 – 122813ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1255 – 12606CytoplasmicSequence Analysis
    Topological domaini1283 – 12864ExtracellularSequence Analysis
    Topological domaini1309 – 132719CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1350 – 143586ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1463 – 151553CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1540 – 155011ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1575 – 15806CytoplasmicSequence Analysis
    Topological domaini1605 – 161410ExtracellularSequence Analysis
    Topological domaini1637 – 165115CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1675 – 173965ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1765 – 1978214CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei128 – 15124Helical; Name=S1 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei160 – 17920Helical; Name=S2 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei193 – 21119Helical; Name=S3 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei218 – 23720Helical; Name=S4 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei253 – 27725Helical; Voltage-sensor; Name=S5 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei388 – 41326Helical; Name=S6 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei746 – 77025Helical; Name=S1 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei782 – 80524Helical; Name=S2 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei814 – 83320Helical; Name=S3 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei840 – 86021Helical; Voltage-sensor; Name=S4 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei876 – 89621Helical; Name=S5 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei950 – 97526Helical; Name=S6 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei1192 – 121524Helical; Name=S1 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1229 – 125426Helical; Name=S2 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1261 – 128222Helical; Name=S3 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1287 – 130822Helical; Voltage-sensor; Name=S4 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1328 – 134922Helical; Name=S5 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1436 – 146227Helical; Name=S6 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1516 – 153924Helical; Name=S1 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1551 – 157424Helical; Name=S2 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1581 – 160424Helical; Name=S3 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1615 – 163622Helical; Voltage-sensor; Name=S4 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1652 – 167423Helical; Name=S5 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1740 – 176425Helical; Name=S6 of repeat IVSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati114 – 442329ICuratedAdd
    BLAST
    Repeati733 – 1005273IICuratedAdd
    BLAST
    Repeati1178 – 1493316IIICuratedAdd
    BLAST
    Repeati1502 – 1799298IVCuratedAdd
    BLAST
    Domaini1893 – 192230IQCuratedPROSITE-ProRule annotationAdd
    BLAST

    Domaini

    The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.Curated

    Sequence similaritiesi

    Contains 1 IQ domain.CuratedPROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1226.
    HOGENOMiHOG000231755.
    HOVERGENiHBG091796.
    KOiK04840.
    PhylomeDBiQ9WTU3.

    Family and domain databases

    Gene3Di1.20.120.350. 4 hits.
    InterProiIPR027359. Channel_four-helix_dom.
    IPR024583. DUF3451.
    IPR005821. Ion_trans_dom.
    IPR000048. IQ_motif_EF-hand-BS.
    IPR008054. Na_channel_a8su.
    IPR001696. Na_channel_asu.
    IPR010526. Na_trans_assoc.
    [Graphical view]
    PfamiPF11933. DUF3451. 1 hit.
    PF00520. Ion_trans. 4 hits.
    PF00612. IQ. 1 hit.
    PF06512. Na_trans_assoc. 1 hit.
    [Graphical view]
    PRINTSiPR00170. NACHANNEL.
    PR01667. NACHANNEL8.
    SMARTiSM00015. IQ. 1 hit.
    [Graphical view]
    PROSITEiPS50096. IQ. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 12 Publications (identifier: Q9WTU3-1) [UniParc]FASTAAdd to Basket

    Also known as: 18A1 Publication

    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

    MAARVLAPPG PDSFKPFTPE SLANIERRIA ESKLKKPPKA DGSHREDDED     50
    SKPKPNSDLE AGKSLPFIYG DIPQGLVAVP LEDFDPYYLT QKTFVVLNRG 100
    KTLFRFSATP ALYILSPFNL IRRIAIKILI HSVFSMIIMC TILTNCVFMT 150
    FSNPPEWSKN VEYTFTGIYT FESLVKIIAR GFCIDGFTFL RDPWNWLDFS 200
    VIMMAYVTEF VDLGNVSALR TFRVLRALKT ISVIPGLKTI VGALIQSVKK 250
    LSDVMILTVF CLSVFALIGL QLFMGNLRNK CVVWPINFNE SYLENGTRGF 300
    DWEEYINNKT NFYMVPGMLE PLLCGNSSDA GQCPEGFQCM KAGRNPNYGY 350
    TSFDTFSWAF LALFRLMTQD YWENLYQLTL RAAGKTYMIF FVLVIFVGSF 400
    YLVNLILAVV AMAYEEQNQA TLEEAEQKEA EFKAMLEQLK KQQEEAQAAA 450
    MATSAGTVSE DAIEEEGEDG VGSPRSSSEL SKLSSKSAKE RRNRRKKRKQ 500
    KELSEGEEKG DPEKVFKSES EDGMRRKAFR LPDNRIGRKF SIMNQSLLSI 550
    PGSPFLSRHN SKSSIFSFRG PGRFRDPGSE NEFADDEHST VEESEGRRDS 600
    LFIPIRARER RSSYSGYSGY SQCSRSSRIF PSLRRSVKRN STVDCNGVVS 650
    LIGPGSHIGR LLPEATTEVE IKKKGPGSLL VSMEQLASYG RKDRINSIMS 700
    VVTNTLVEEL EESQRKCPPC WYKFANTFLI WECHPYWIKL KEIVNLIVMD 750
    PFVDLAITIC IVLNTLFMAM EHHPMTPQFE HVLAVGNLVF TGIFTAEMFL 800
    KLIAMDPYYY FQEGWNIFDG FIVSLSLMEL GLADVEGLSV LRSFRLLRVF 850
    KLAKSWPTLN MLIKIIGNSV GALGNLTLVL AIIVFIFAVV GMQLFGKSYK 900
    ECVCKISQEC KLPRWHMNDF FHSFLIVFRV LCGEWIETMW DCMEVAGQAM 950
    CLIVFMMVMV IGNLVVLNLF LALLLSSFSA DNLAATDDDG EMNNLQISVI 1000
    RIKKGVAWAK VKVHAFMQAH FKQREADEVK PLDELYEKKA NCIANHTGVD 1050
    IHRNGDFQKN GNGTTSGIGS SVEKYIIDED HMSFINNPNL TVRVPIAVGE 1100
    SDFENLNTED VSSESDPEGS KDKLDDTSSS EGSTIDIKPE VEEVPVEQPE 1150
    EYLDPDACFT EGCVQRFKCC QVNIEEGLGK SWWILRKTCF LIVEHNWFET 1200
    FIIFMILLSS GALAFEDIYI EQRKTIRTIL EYADKVFTYI FILEMLLKWT 1250
    AYGFVKFFTN AWCWLDFLIV AVSLVSLIAN ALGYSELGAI KSLRTLRALR 1300
    PLRALSRFEG MRVVVNALVG AIPSIMNVLL VCLIFWLIFS IMGVNLFAGK 1350
    YHYCFNETSE IRFEIDEVNN KTDCEKLMEG NNTEIRWKNV KINFDNVGAG 1400
    YLALLQVATF KGWMDIMYAA VDSRKPDEQP DYEGNIYMYI YFVIFIIFGS 1450
    FFTLNLFIGV IIDNFNQQKK KFGGQDIFMT EEQKKYYNAM KKLGSKKPQK 1500
    PIPRPLNKIQ GIVFDFVTQQ AFDIVIMMLI CLNMVTMMVE TDTQSKQMEN 1550
    ILYWINLVFV IFFTCECVLK MFALRHYYFT IGWNIFDFVV VILSIVGMFL 1600
    ADIIEKYFVS PTLFRVIRLA RIGRILRLIK GAKGIRTLLF ALMMSLPALF 1650
    NIGLLLFLVM FIFSIFGMSN FAYVKHEAGI DDMFNFETFG NSMICLFQIT 1700
    TSAGWDGLLL PILNRPPDCS LDKEHPGSGF KGDCGNPSVG IFFFVSYIII 1750
    SFLIVVNMYI AIILENFSVA TEESADPLSE DDFETFYEIW EKFDPDATQF 1800
    IEYCKLADFA DALEHPLRVP KPNTIELIAM DLPMVSGDRI HCLDILFAFT 1850
    KRVLGDSGEL DILRQQMEER FVASNPSKVS YEPITTTLRR KQEEVSAVVL 1900
    QRAYRGHLAR RGFICRKITS NKLENGGTHR EKKESTPSTA SLPSYDSVTK 1950
    PDKEKQQRAE EGRRERAKRQ KEVRESKC 1978
    Length:1,978
    Mass (Da):225,141
    Last modified:November 1, 1999 - v1
    Checksum:i9EA4A8E610707220
    GO
    Isoform 21 Publication (identifier: Q9WTU3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         428-673: Missing.

    Show »
    Length:1,732
    Mass (Da):197,648
    Checksum:i7A7CF0DB544EBCF6
    GO
    Isoform 31 Publication (identifier: Q9WTU3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         664-664: E → EVKIDKAATDS

    Show »
    Length:1,988
    Mass (Da):226,170
    Checksum:i4DF697091BEFF58B
    GO
    Isoform 41 Publication (identifier: Q9WTU3-4) [UniParc]FASTAAdd to Basket

    Also known as: 18N1 Publication

    The sequence of this isoform differs from the canonical sequence as follows:
         1273-1280: SLVSLIAN → PLSLSGLI
         1281-1978: Missing.

    Show »
    Length:1,280
    Mass (Da):145,012
    Checksum:i829683D208A54355
    GO
    Isoform 51 Publication (identifier: Q9WTU3-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1272-1312: Missing.

    Show »
    Length:1,937
    Mass (Da):220,659
    Checksum:i12C51774C21ADF5E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti207 – 2071V → I in BAE34580. (PubMed:16141072)Curated
    Sequence conflicti212 – 2121D → N in BAE34580. (PubMed:16141072)Curated
    Sequence conflicti554 – 5541P → T in BAE34580. (PubMed:16141072)Curated
    Sequence conflicti596 – 5961G → D in BAE34580. (PubMed:16141072)Curated
    Sequence conflicti1498 – 14981P → A in AAA65599. 1 PublicationCurated
    Sequence conflicti1504 – 15041R → E in AAA65599. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti5 – 51V → L.2 Publications
    Natural varianti1317 – 13171A → T in medjo. 1 Publication

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei428 – 673246Missing in isoform 2. 1 PublicationVSP_050594Add
    BLAST
    Alternative sequencei664 – 6641E → EVKIDKAATDS in isoform 3. 1 PublicationVSP_050595
    Alternative sequencei1272 – 131241Missing in isoform 5. 1 PublicationVSP_050598Add
    BLAST
    Alternative sequencei1273 – 12808SLVSLIAN → PLSLSGLI in isoform 4. 1 PublicationVSP_050596
    Alternative sequencei1281 – 1978698Missing in isoform 4. 1 PublicationVSP_050597Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF049617 mRNA. Translation: AAD20438.1.
    U26707 mRNA. Translation: AAC52242.1.
    AK158609 mRNA. Translation: BAE34580.1.
    U59964, U59963 Genomic DNA. Translation: AAC52708.1.
    U23158 mRNA. Translation: AAA65599.1.
    CCDSiCCDS57011.1. [Q9WTU3-1]
    RefSeqiNP_001070967.1. NM_001077499.2.
    NP_035453.2. NM_011323.3.
    UniGeneiMm.385012.

    Genome annotation databases

    GeneIDi20273.
    KEGGimmu:20273.
    UCSCiuc007xsh.1. mouse. [Q9WTU3-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF049617 mRNA. Translation: AAD20438.1 .
    U26707 mRNA. Translation: AAC52242.1 .
    AK158609 mRNA. Translation: BAE34580.1 .
    U59964 , U59963 Genomic DNA. Translation: AAC52708.1 .
    U23158 mRNA. Translation: AAA65599.1 .
    CCDSi CCDS57011.1. [Q9WTU3-1 ]
    RefSeqi NP_001070967.1. NM_001077499.2.
    NP_035453.2. NM_011323.3.
    UniGenei Mm.385012.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3WFN X-ray 1.95 B/C/D/E 1893-1914 [» ]
    ProteinModelPortali Q9WTU3.
    SMRi Q9WTU3. Positions 128-273, 761-975, 1186-1463, 1513-1913.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 203103. 3 interactions.
    IntActi Q9WTU3. 1 interaction.
    STRINGi 10090.ENSMUSP00000080842.

    Chemistry

    BindingDBi Q9WTU3.
    ChEMBLi CHEMBL1914275.
    GuidetoPHARMACOLOGYi 583.

    PTM databases

    PhosphoSitei Q9WTU3.

    Proteomic databases

    PaxDbi Q9WTU3.
    PRIDEi Q9WTU3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 20273.
    KEGGi mmu:20273.
    UCSCi uc007xsh.1. mouse. [Q9WTU3-1 ]

    Organism-specific databases

    CTDi 6334.
    MGIi MGI:103169. Scn8a.

    Phylogenomic databases

    eggNOGi COG1226.
    HOGENOMi HOG000231755.
    HOVERGENi HBG091796.
    KOi K04840.
    PhylomeDBi Q9WTU3.

    Miscellaneous databases

    ChiTaRSi SCN8A. mouse.
    NextBioi 297955.
    PROi Q9WTU3.
    SOURCEi Search...

    Gene expression databases

    CleanExi MM_SCN8A.
    Genevestigatori Q9WTU3.

    Family and domain databases

    Gene3Di 1.20.120.350. 4 hits.
    InterProi IPR027359. Channel_four-helix_dom.
    IPR024583. DUF3451.
    IPR005821. Ion_trans_dom.
    IPR000048. IQ_motif_EF-hand-BS.
    IPR008054. Na_channel_a8su.
    IPR001696. Na_channel_asu.
    IPR010526. Na_trans_assoc.
    [Graphical view ]
    Pfami PF11933. DUF3451. 1 hit.
    PF00520. Ion_trans. 4 hits.
    PF00612. IQ. 1 hit.
    PF06512. Na_trans_assoc. 1 hit.
    [Graphical view ]
    PRINTSi PR00170. NACHANNEL.
    PR01667. NACHANNEL8.
    SMARTi SM00015. IQ. 1 hit.
    [Graphical view ]
    PROSITEi PS50096. IQ. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A."
      Plummer N.W., Galt J., Jones J.M., Burgess D.L., Sprunger L.K., Kohrman D.C., Meisler M.H.
      Genomics 54:287-296(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE (ISOFORMS 1 AND 3).
      Strain: C57BL/6JImported.
    2. "Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'."
      Burgess D.L., Kohrman D.C., Galt J., Plummer N.W., Jones J.M., Spear B., Meisler M.H.
      Nat. Genet. 10:461-465(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, DISEASE.
      Strain: C57BL/6J1 Publication.
      Tissue: Brain1 Publication.
    3. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-804, VARIANT LEU-5.
      Strain: C57BL/6J.
      Tissue: Visual cortex.
    4. "Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron."
      Kohrman D.C., Harris J.B., Meisler M.H.
      J. Biol. Chem. 271:17576-17581(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 93-205, DISEASE.
      Strain: 129/Sv1 Publication.
      Tissue: Brain1 Publication.
    5. "A putative novel Na channel alpha subunit cDNA isolated from mouse NB2a neuroblastoma cells."
      Fan Z., Kyle J.W., Makielski J.C.
      Submitted (MAR-1995) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1411-1686.
    6. "Regulation of neuronal voltage-gated sodium channels by the ubiquitin-protein ligases Nedd4 and Nedd4-2."
      Fotia A.B., Ekberg J., Adams D.J., Cook D.I., Poronnik P., Kumar S.
      J. Biol. Chem. 279:28930-28935(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH NEDD4 AND NEDD4L.
    7. "Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells."
      Plummer N.W., McBurney M.W., Meisler M.H.
      J. Biol. Chem. 272:24008-24015(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING (ISOFORMS 1; 4 AND 5).
      Tissue: Brain1 Publication and Fetal brain1 Publication.
    8. "Regulation of podosome formation in macrophages by a splice variant of the sodium channel SCN8A."
      Carrithers M.D., Chatterjee G., Carrithers L.M., Offoha R., Iheagwara U., Rahner C., Graham M., Waxman S.G.
      J. Biol. Chem. 284:8114-8126(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    9. "A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting."
      Kohrman D.C., Smith M.R., Goldin A.L., Harris J., Meisler M.H.
      J. Neurosci. 16:5993-5999(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MEDJO THR-1317, VARIANT LEU-5.
      Strain: DBA/2WyDi1 Publication.
    10. "Pathological and genetic analysis of the degenerating muscle (dmu) mouse: a new allele of Scn8a."
      De Repentigny Y., Cote P.D., Pool M., Bernier G., Girard S., Vidal S.M., Kothary R.
      Hum. Mol. Genet. 10:1819-1827(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISEASE.

    Entry informationi

    Entry nameiSCN8A_MOUSE
    AccessioniPrimary (citable) accession number: Q9WTU3
    Secondary accession number(s): Q3TYI3
    , Q60828, Q60858, Q62449
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 15, 2003
    Last sequence update: November 1, 1999
    Last modified: October 1, 2014
    This is version 117 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3