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Q9UQD0

- SCN8A_HUMAN

UniProt

Q9UQD0 - SCN8A_HUMAN

Protein

Sodium channel protein type 8 subunit alpha

Gene

SCN8A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      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 and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi893 – 9008ATPSequence Analysis

    GO - Molecular functioni

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

    GO - Biological processi

    1. adult walking behavior Source: Ensembl
    2. axon guidance Source: Reactome
    3. membrane depolarization during action potential Source: RefGenome
    4. muscle organ development Source: Ensembl
    5. myelination Source: BHF-UCL
    6. nervous system development Source: ProtInc
    7. neuromuscular process Source: Ensembl
    8. neuronal action potential Source: RefGenome
    9. peripheral nervous system development Source: BHF-UCL
    10. response to toxic substance Source: Ensembl
    11. sensory perception of sound Source: Ensembl
    12. sodium ion transmembrane transport Source: GOC
    13. 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

    Enzyme and pathway databases

    ReactomeiREACT_22266. Interaction between L1 and Ankyrins.

    Protein family/group databases

    TCDBi1.A.1.10.8. the voltage-gated ion channel (vic) superfamily.

    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:MED
    OrganismiHomo sapiens (Human)Imported
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:10596. SCN8A.

    Subcellular locationi

    Membrane 1 Publication; Multi-pass membrane protein 1 Publication
    Isoform 5 : Cytoplasmic vesicle
    Note: Some vesicles are localized adjacent to melanoma invadopodia and macrophage podosomes. Does not localize to the plasma membrane.

    GO - Cellular componenti

    1. axon initial segment Source: BHF-UCL
    2. cytoplasmic membrane-bounded vesicle Source: UniProtKB-SubCell
    3. dendrite Source: Ensembl
    4. integral component of membrane Source: ProtInc
    5. neuronal cell body Source: Ensembl
    6. node of Ranvier Source: BHF-UCL
    7. plasma membrane Source: RefGenome
    8. voltage-gated sodium channel complex Source: UniProtKB
    9. Z disc Source: BHF-UCL

    Keywords - Cellular componenti

    Cytoplasmic vesicle, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Cognitive impairment with or without cerebellar ataxia (CIAT) [MIM:614306]: A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]: A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. EIEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1768 – 17681N → D in EIEE13; gain-of-function mutation; results in increased persistent sodium currents and incomplete channel inactivation. 1 Publication
    VAR_067539

    Keywords - Diseasei

    Disease mutation, Epilepsy, Mental retardation

    Organism-specific databases

    MIMi614306. phenotype.
    614558. phenotype.
    Orphaneti1934. Early infantile epileptic encephalopathy.
    PharmGKBiPA35009.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 19801980Sodium channel protein type 8 subunit alphaPRO_0000048500Add
    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
    Glycosylationi1358 – 13581N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1372 – 13721N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1383 – 13831N-linked (GlcNAc...)Sequence Analysis
    Modified residuei1497 – 14971Phosphoserine; by PKCBy similarity

    Post-translational modificationi

    May be ubiquitinated by NEDD4L; which would promote its endocytosis.By similarity
    Phosphorylation at Ser-1497 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

    PaxDbiQ9UQD0.
    PRIDEiQ9UQD0.

    PTM databases

    PhosphoSiteiQ9UQD0.

    Expressioni

    Tissue specificityi

    Isoform 5 is expressed in non-neuronal tissues, such as monocytes/macrophages.1 Publication

    Gene expression databases

    ArrayExpressiQ9UQD0.
    BgeeiQ9UQD0.
    CleanExiHS_SCN8A.
    GenevestigatoriQ9UQD0.

    Organism-specific databases

    HPAiCAB022169.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi112238. 1 interaction.
    IntActiQ9UQD0. 1 interaction.
    STRINGi9606.ENSP00000346534.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UQD0.
    SMRiQ9UQD0. Positions 128-273, 763-977, 1187-1465, 1515-1915.
    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 – 747334CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini773 – 78311ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini808 – 8158CytoplasmicSequence Analysis
    Topological domaini836 – 8416ExtracellularSequence Analysis
    Topological domaini863 – 87715CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini899 – 95153ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini978 – 1193216CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1218 – 123013ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1257 – 12626CytoplasmicSequence Analysis
    Topological domaini1285 – 12884ExtracellularSequence Analysis
    Topological domaini1311 – 132919CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1352 – 143786ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1465 – 151753CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1542 – 155211ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1577 – 15826CytoplasmicSequence Analysis
    Topological domaini1607 – 161610ExtracellularSequence Analysis
    Topological domaini1639 – 165315CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1677 – 174165ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1767 – 1980214CytoplasmicSequence 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; Voltage-sensor; Name=S4 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei253 – 27725Helical; Name=S5 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei388 – 41326Helical; Name=S6 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei748 – 77225Helical; Name=S1 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei784 – 80724Helical; Name=S2 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei816 – 83520Helical; Name=S3 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei842 – 86221Helical; Voltage-sensor; Name=S4 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei878 – 89821Helical; Name=S5 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei952 – 97726Helical; Name=S6 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei1194 – 121724Helical; Name=S1 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1231 – 125626Helical; Name=S2 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1263 – 128422Helical; Name=S3 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1289 – 131022Helical; Voltage-sensor; Name=S4 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1330 – 135122Helical; Name=S5 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1438 – 146427Helical; Name=S6 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1518 – 154124Helical; Name=S1 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1553 – 157624Helical; Name=S2 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1583 – 160624Helical; Name=S3 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1617 – 163822Helical; Voltage-sensor; Name=S4 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1654 – 167623Helical; Name=S5 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1742 – 176625Helical; Name=S6 of repeat IVSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati114 – 442329ICuratedAdd
    BLAST
    Repeati735 – 1007273IICuratedAdd
    BLAST
    Repeati1180 – 1495316IIICuratedAdd
    BLAST
    Repeati1504 – 1801298IVCuratedAdd
    BLAST
    Domaini1895 – 192430IQCuratedPROSITE-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.
    HOVERGENiHBG053100.
    KOiK04840.
    OMAiGFICKKT.
    PhylomeDBiQ9UQD0.
    TreeFamiTF323985.

    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 11 Publication (identifier: Q9UQD0-1) [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

    MAARLLAPPG PDSFKPFTPE SLANIERRIA ESKLKKPPKA DGSHREDDED     50
    SKPKPNSDLE AGKSLPFIYG DIPQGLVAVP LEDFDPYYLT QKTFVVLNRG 100
    KTLFRFSATP ALYILSPFNL IRRIAIKILI HSVFSMIIMC TILTNCVFMT 150
    FSNPPDWSKN VEYTFTGIYT FESLVKIIAR GFCIDGFTFL RDPWNWLDFS 200
    VIMMAYITEF VNLGNVSALR TFRVLRALKT ISVIPGLKTI VGALIQSVKK 250
    LSDVMILTVF CLSVFALIGL QLFMGNLRNK CVVWPINFNE SYLENGTKGF 300
    DWEEYINNKT NFYTVPGMLE PLLCGNSSDA GQCPEGYQCM KAGRNPNYGY 350
    TSFDTFSWAF LALFRLMTQD YWENLYQLTL RAAGKTYMIF FVLVIFVGSF 400
    YLVNLILAVV AMAYEEQNQA TLEEAEQKEA EFKAMLEQLK KQQEEAQAAA 450
    MATSAGTVSE DAIEEEGEEG GGSPRSSSEI SKLSSKSAKE RRNRRKKRKQ 500
    KELSEGEEKG DPEKVFKSES EDGMRRKAFR LPDNRIGRKF SIMNQSLLSI 550
    PGSPFLSRHN SKSSIFSFRG PGRFRDPGSE NEFADDEHST VEESEGRRDS 600
    LFIPIRARER RSSYSGYSGY SQGSRSSRIF PSLRRSVKRN STVDCNGVVS 650
    LIGGPGSHIG GRLLPEATTE VEIKKKGPGS LLVSMDQLAS YGRKDRINSI 700
    MSVVTNTLVE ELEESQRKCP PCWYKFANTF LIWECHPYWI KLKEIVNLIV 750
    MDPFVDLAIT ICIVLNTLFM AMEHHPMTPQ FEHVLAVGNL VFTGIFTAEM 800
    FLKLIAMDPY YYFQEGWNIF DGFIVSLSLM ELSLADVEGL SVLRSFRLLR 850
    VFKLAKSWPT LNMLIKIIGN SVGALGNLTL VLAIIVFIFA VVGMQLFGKS 900
    YKECVCKINQ DCELPRWHMH DFFHSFLIVF RVLCGEWIET MWDCMEVAGQ 950
    AMCLIVFMMV MVIGNLVVLN LFLALLLSSF SADNLAATDD DGEMNNLQIS 1000
    VIRIKKGVAW TKLKVHAFMQ AHFKQREADE VKPLDELYEK KANCIANHTG 1050
    ADIHRNGDFQ KNGNGTTSGI GSSVEKYIID EDHMSFINNP NLTVRVPIAV 1100
    GESDFENLNT EDVSSESDPE GSKDKLDDTS SSEGSTIDIK PEVEEVPVEQ 1150
    PEEYLDPDAC FTEGCVQRFK CCQVNIEEGL GKSWWILRKT CFLIVEHNWF 1200
    ETFIIFMILL SSGALAFEDI YIEQRKTIRT ILEYADKVFT YIFILEMLLK 1250
    WTAYGFVKFF TNAWCWLDFL IVAVSLVSLI ANALGYSELG AIKSLRTLRA 1300
    LRPLRALSRF EGMRVVVNAL VGAIPSIMNV LLVCLIFWLI FSIMGVNLFA 1350
    GKYHYCFNET SEIRFEIEDV NNKTECEKLM EGNNTEIRWK NVKINFDNVG 1400
    AGYLALLQVA TFKGWMDIMY AAVDSRKPDE QPKYEDNIYM YIYFVIFIIF 1450
    GSFFTLNLFI GVIIDNFNQQ KKKFGGQDIF MTEEQKKYYN AMKKLGSKKP 1500
    QKPIPRPLNK IQGIVFDFVT QQAFDIVIMM LICLNMVTMM VETDTQSKQM 1550
    ENILYWINLV FVIFFTCECV LKMFALRHYY FTIGWNIFDF VVVILSIVGM 1600
    FLADIIEKYF VSPTLFRVIR LARIGRILRL IKGAKGIRTL LFALMMSLPA 1650
    LFNIGLLLFL VMFIFSIFGM SNFAYVKHEA GIDDMFNFET FGNSMICLFQ 1700
    ITTSAGWDGL LLPILNRPPD CSLDKEHPGS GFKGDCGNPS VGIFFFVSYI 1750
    IISFLIVVNM YIAIILENFS VATEESADPL SEDDFETFYE IWEKFDPDAT 1800
    QFIEYCKLAD FADALEHPLR VPKPNTIELI AMDLPMVSGD RIHCLDILFA 1850
    FTKRVLGDSG ELDILRQQME ERFVASNPSK VSYEPITTTL RRKQEEVSAV 1900
    VLQRAYRGHL ARRGFICKKT TSNKLENGGT HREKKESTPS TASLPSYDSV 1950
    TKPEKEKQQR AEEGRRERAK RQKEVRESKC 1980
    Length:1,980
    Mass (Da):225,280
    Last modified:May 1, 2000 - v1
    Checksum:i0EFC7BFB137FD4F0
    GO
    Isoform 21 Publication (identifier: Q9UQD0-2) [UniParc]FASTAAdd to Basket

    Also known as: 5A1 Publication

    The sequence of this isoform differs from the canonical sequence as follows:
         207-207: I → V
         212-212: N → D

    Show »
    Length:1,980
    Mass (Da):225,267
    Checksum:i0510CF3CC31892F0
    GO
    Isoform 31 Publication (identifier: Q9UQD0-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         666-666: E → EVKIDKAATDDS

    Show »
    Length:1,991
    Mass (Da):226,424
    Checksum:i8C830A4CA55C69DE
    GO
    Isoform 41 Publication (identifier: Q9UQD0-4) [UniParc]FASTAAdd to Basket

    Also known as: 18N1 Publication

    The sequence of this isoform differs from the canonical sequence as follows:
         1275-1283: SLVSLIANA → PLNLSGLI
         1284-1980: Missing.

    Show »
    Length:1,282
    Mass (Da):145,118
    Checksum:i43D3C2BD00DD44E5
    GO
    Isoform 5 (identifier: Q9UQD0-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1275-1315: Missing.

    Show »
    Length:1,939
    Mass (Da):220,798
    Checksum:i3E44D910D3897BC4
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti5 – 51L → V in AAF35390. 1 PublicationCurated
    Sequence conflicti133 – 1331V → L in AAD15789. (PubMed:9295353)Curated
    Sequence conflicti257 – 2571L → M in AAF35390. 1 PublicationCurated
    Sequence conflicti273 – 2731F → I in ACM63162. (PubMed:19136557)Curated
    Sequence conflicti274 – 2785MGNLR → HGEPS in AAF35390. 1 PublicationCurated
    Sequence conflicti453 – 4531T → N in AAF35390. 1 PublicationCurated
    Sequence conflicti477 – 4771S → F in AAF35390. 1 PublicationCurated
    Sequence conflicti483 – 4831L → I in AAF35390. 1 PublicationCurated
    Sequence conflicti492 – 4921R → S in AAF35390. 1 PublicationCurated
    Sequence conflicti504 – 5041S → F in AAF35390. 1 PublicationCurated
    Sequence conflicti547 – 5482LL → MF in AAF35390. 1 PublicationCurated
    Sequence conflicti1416 – 14161M → V in ACM63162. (PubMed:19136557)Curated
    Sequence conflicti1445 – 14451V → I in AAD15789. (PubMed:9295353)Curated
    Sequence conflicti1519 – 15191V → I in AAD15789. (PubMed:9295353)Curated
    Sequence conflicti1702 – 17021T → A in AAF35390. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1768 – 17681N → D in EIEE13; gain-of-function mutation; results in increased persistent sodium currents and incomplete channel inactivation. 1 Publication
    VAR_067539

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei207 – 2071I → V in isoform 2. 1 PublicationVSP_050589
    Alternative sequencei212 – 2121N → D in isoform 2. 1 PublicationVSP_050590
    Alternative sequencei666 – 6661E → EVKIDKAATDDS in isoform 3. 1 PublicationVSP_050591
    Alternative sequencei1275 – 131541Missing in isoform 5. 1 PublicationVSP_038651Add
    BLAST
    Alternative sequencei1275 – 12839SLVSLIANA → PLNLSGLI in isoform 4. 1 PublicationVSP_050592
    Alternative sequencei1284 – 1980697Missing in isoform 4. 1 PublicationVSP_050593Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF050736
    , AF050711, AF050712, AF050713, AF050714, AF050715, AF050716, AF050717, AF050718, AF050719, AF050720, AF050721, AF050722, AF050723, AF050724, AF050725, AF050726, AF050727, AF050728, AF050729, AF050730, AF050731, AF050732, AF050733, AF050734, AF050735 Genomic DNA. Translation: AAD15789.1.
    AF049618 Genomic DNA. Translation: AAD20439.1.
    FJ611941 mRNA. Translation: ACM63162.1.
    AB027567 mRNA. Translation: BAA78033.1.
    AF225988 mRNA. Translation: AAF35390.1.
    AC013421 Genomic DNA. No translation available.
    AC025097 Genomic DNA. No translation available.
    AC068987 Genomic DNA. No translation available.
    AC140060 Genomic DNA. No translation available.
    CCDSiCCDS44891.1. [Q9UQD0-1]
    CCDS53794.1. [Q9UQD0-5]
    RefSeqiNP_001171455.1. NM_001177984.2. [Q9UQD0-5]
    NP_055006.1. NM_014191.3. [Q9UQD0-1]
    XP_006719619.1. XM_006719556.1. [Q9UQD0-2]
    UniGeneiHs.436550.
    Hs.710638.

    Genome annotation databases

    GeneIDi6334.
    KEGGihsa:6334.
    UCSCiuc001ryw.4. human. [Q9UQD0-1]
    uc010snl.3. human. [Q9UQD0-5]

    Polymorphism databases

    DMDMi34098756.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF050736
    , AF050711 , AF050712 , AF050713 , AF050714 , AF050715 , AF050716 , AF050717 , AF050718 , AF050719 , AF050720 , AF050721 , AF050722 , AF050723 , AF050724 , AF050725 , AF050726 , AF050727 , AF050728 , AF050729 , AF050730 , AF050731 , AF050732 , AF050733 , AF050734 , AF050735 Genomic DNA. Translation: AAD15789.1 .
    AF049618 Genomic DNA. Translation: AAD20439.1 .
    FJ611941 mRNA. Translation: ACM63162.1 .
    AB027567 mRNA. Translation: BAA78033.1 .
    AF225988 mRNA. Translation: AAF35390.1 .
    AC013421 Genomic DNA. No translation available.
    AC025097 Genomic DNA. No translation available.
    AC068987 Genomic DNA. No translation available.
    AC140060 Genomic DNA. No translation available.
    CCDSi CCDS44891.1. [Q9UQD0-1 ]
    CCDS53794.1. [Q9UQD0-5 ]
    RefSeqi NP_001171455.1. NM_001177984.2. [Q9UQD0-5 ]
    NP_055006.1. NM_014191.3. [Q9UQD0-1 ]
    XP_006719619.1. XM_006719556.1. [Q9UQD0-2 ]
    UniGenei Hs.436550.
    Hs.710638.

    3D structure databases

    ProteinModelPortali Q9UQD0.
    SMRi Q9UQD0. Positions 128-273, 763-977, 1187-1465, 1515-1915.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112238. 1 interaction.
    IntActi Q9UQD0. 1 interaction.
    STRINGi 9606.ENSP00000346534.

    Chemistry

    BindingDBi Q9UQD0.
    ChEMBLi CHEMBL2331043.
    DrugBanki DB00555. Lamotrigine.
    GuidetoPHARMACOLOGYi 583.

    Protein family/group databases

    TCDBi 1.A.1.10.8. the voltage-gated ion channel (vic) superfamily.

    PTM databases

    PhosphoSitei Q9UQD0.

    Polymorphism databases

    DMDMi 34098756.

    Proteomic databases

    PaxDbi Q9UQD0.
    PRIDEi Q9UQD0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 6334.
    KEGGi hsa:6334.
    UCSCi uc001ryw.4. human. [Q9UQD0-1 ]
    uc010snl.3. human. [Q9UQD0-5 ]

    Organism-specific databases

    CTDi 6334.
    GeneCardsi GC12P051987.
    HGNCi HGNC:10596. SCN8A.
    HPAi CAB022169.
    MIMi 600702. gene.
    614306. phenotype.
    614558. phenotype.
    neXtProti NX_Q9UQD0.
    Orphaneti 1934. Early infantile epileptic encephalopathy.
    PharmGKBi PA35009.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1226.
    HOGENOMi HOG000231755.
    HOVERGENi HBG053100.
    KOi K04840.
    OMAi GFICKKT.
    PhylomeDBi Q9UQD0.
    TreeFami TF323985.

    Enzyme and pathway databases

    Reactomei REACT_22266. Interaction between L1 and Ankyrins.

    Miscellaneous databases

    ChiTaRSi SCN8A. human.
    GeneWikii SCN8A.
    GenomeRNAii 6334.
    NextBioi 24596.
    PROi Q9UQD0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UQD0.
    Bgeei Q9UQD0.
    CleanExi HS_SCN8A.
    Genevestigatori Q9UQD0.

    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. "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: NUCLEOTIDE SEQUENCE (ISOFORM 4).
      Tissue: Brain1 Publication and Fetal brain1 Publication.
    2. "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 [GENOMIC DNA] (ISOFORMS 1; 2 AND 3).
    3. "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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
      Tissue: Monocytic leukemia.
    4. "cDNA sequence of human sodium channel, SCN8A."
      Lin C., Numakura C., Kiyoshi H.
      Submitted (JUN-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    5. "Cloning of cDNA for human voltage-gated sodium channel alpha subunit, SCN8A."
      Jeong S.-Y., Goto J., Kanazawa I.
      Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    6. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons."
      Wittmack E.K., Rush A.M., Craner M.J., Goldfarb M., Waxman S.G., Dib-Hajj S.D.
      J. Neurosci. 24:6765-6775(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH FGF13.
    8. "Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation."
      Trudeau M.M., Dalton J.C., Day J.W., Ranum L.P., Meisler M.H.
      J. Med. Genet. 43:527-530(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CIAT.
    9. "De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP."
      Veeramah K.R., O'Brien J.E., Meisler M.H., Cheng X., Dib-Hajj S.D., Waxman S.G., Talwar D., Girirajan S., Eichler E.E., Restifo L.L., Erickson R.P., Hammer M.F.
      Am. J. Hum. Genet. 90:502-510(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EIEE13 ASP-1768, CHARACTERIZATION OF VARIANT EIEE13 ASP-1768.

    Entry informationi

    Entry nameiSCN8A_HUMAN
    AccessioniPrimary (citable) accession number: Q9UQD0
    Secondary accession number(s): B9VWG8
    , O95788, Q9NYX2, Q9UPB2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 15, 2003
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 128 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 12
      Human chromosome 12: 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