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Q9UQD0 (SCN8A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SCN8A
Synonyms:MED
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1980 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.3

Subunit structure

Interacts with NEDD4 and NEDD4L By similarity. Interacts with FGF13; may regulate SCN8A activity. Ref.7

Subcellular location

Membrane; Multi-pass membrane protein Ref.3.

Isoform 5: Cytoplasmic vesicle. Note: Some vesicles are localized adjacent to melanoma invadopodia and macrophage podosomes. Does not localize to the plasma membrane. Ref.3

Tissue specificity

Isoform 5 is expressed in non-neuronal tissues, such as monocytes/macrophages. Ref.3

Domain

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.

Post-translational modification

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.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities

Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily. [View classification]

Contains 1 IQ domain.

Ontologies

Keywords
   Biological processIon transport
Sodium transport
Transport
   Cellular componentCytoplasmic vesicle
Membrane
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
Epilepsy
Mental retardation
   DomainRepeat
Transmembrane
Transmembrane helix
   LigandATP-binding
Nucleotide-binding
Sodium
   Molecular functionIon channel
Sodium channel
Voltage-gated channel
   PTMGlycoprotein
Phosphoprotein
Ubl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processadult walking behavior

Inferred from electronic annotation. Source: Ensembl

axon guidance

Traceable author statement. Source: Reactome

muscle organ development

Inferred from electronic annotation. Source: Ensembl

myelination

Inferred from sequence or structural similarity. Source: BHF-UCL

nervous system development

Traceable author statement Ref.2. Source: ProtInc

neuromuscular process

Inferred from electronic annotation. Source: Ensembl

peripheral nervous system development

Inferred from sequence or structural similarity. Source: BHF-UCL

response to toxic substance

Inferred from electronic annotation. Source: Ensembl

sensory perception of sound

Inferred from electronic annotation. Source: Ensembl

sodium ion transmembrane transport

Inferred from direct assay PubMed 21078353. Source: GOC

sodium ion transport

Non-traceable author statement Ref.2. Source: UniProtKB

   Cellular_componentZ disc

Inferred from sequence or structural similarity. Source: BHF-UCL

axon initial segment

Inferred from sequence or structural similarity. Source: BHF-UCL

cytoplasmic membrane-bounded vesicle

Inferred from electronic annotation. Source: UniProtKB-SubCell

dendrite

Inferred from electronic annotation. Source: Ensembl

integral component of membrane

Traceable author statement Ref.2. Source: ProtInc

neuronal cell body

Inferred from electronic annotation. Source: Ensembl

node of Ranvier

Inferred from sequence or structural similarity. Source: BHF-UCL

voltage-gated sodium channel complex

Inferred by curator Ref.2. Source: UniProtKB

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

voltage-gated sodium channel activity

Inferred from direct assay PubMed 21078353. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 Ref.2 (identifier: Q9UQD0-1)

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.
Isoform 2 Ref.2 (identifier: Q9UQD0-2)

Also known as: 5A;

The sequence of this isoform differs from the canonical sequence as follows:
     207-207: I → V
     212-212: N → D
Isoform 3 Ref.2 (identifier: Q9UQD0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     666-666: E → EVKIDKAATDDS
Isoform 4 Ref.1 (identifier: Q9UQD0-4)

Also known as: 18N;

The sequence of this isoform differs from the canonical sequence as follows:
     1275-1283: SLVSLIANA → PLNLSGLI
     1284-1980: Missing.
Isoform 5 (identifier: Q9UQD0-5)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 19801980Sodium channel protein type 8 subunit alpha
PRO_0000048500

Regions

Topological domain1 – 127127Cytoplasmic Potential
Transmembrane128 – 15124Helical; Name=S1 of repeat I; Potential
Topological domain152 – 1598Extracellular Potential
Transmembrane160 – 17920Helical; Name=S2 of repeat I; Potential
Topological domain180 – 19213Cytoplasmic Potential
Transmembrane193 – 21119Helical; Name=S3 of repeat I; Potential
Topological domain212 – 2176Extracellular Potential
Transmembrane218 – 23720Helical; Voltage-sensor; Name=S4 of repeat I; Potential
Topological domain238 – 25215Cytoplasmic Potential
Transmembrane253 – 27725Helical; Name=S5 of repeat I; Potential
Topological domain278 – 387110Extracellular Potential
Transmembrane388 – 41326Helical; Name=S6 of repeat I; Potential
Topological domain414 – 747334Cytoplasmic Potential
Transmembrane748 – 77225Helical; Name=S1 of repeat II; Potential
Topological domain773 – 78311Extracellular Potential
Transmembrane784 – 80724Helical; Name=S2 of repeat II; Potential
Topological domain808 – 8158Cytoplasmic Potential
Transmembrane816 – 83520Helical; Name=S3 of repeat II; Potential
Topological domain836 – 8416Extracellular Potential
Transmembrane842 – 86221Helical; Voltage-sensor; Name=S4 of repeat II; Potential
Topological domain863 – 87715Cytoplasmic Potential
Transmembrane878 – 89821Helical; Name=S5 of repeat II; Potential
Topological domain899 – 95153Extracellular Potential
Transmembrane952 – 97726Helical; Name=S6 of repeat II; Potential
Topological domain978 – 1193216Cytoplasmic Potential
Transmembrane1194 – 121724Helical; Name=S1 of repeat III; Potential
Topological domain1218 – 123013Extracellular Potential
Transmembrane1231 – 125626Helical; Name=S2 of repeat III; Potential
Topological domain1257 – 12626Cytoplasmic Potential
Transmembrane1263 – 128422Helical; Name=S3 of repeat III; Potential
Topological domain1285 – 12884Extracellular Potential
Transmembrane1289 – 131022Helical; Voltage-sensor; Name=S4 of repeat III; Potential
Topological domain1311 – 132919Cytoplasmic Potential
Transmembrane1330 – 135122Helical; Name=S5 of repeat III; Potential
Topological domain1352 – 143786Extracellular Potential
Transmembrane1438 – 146427Helical; Name=S6 of repeat III; Potential
Topological domain1465 – 151753Cytoplasmic Potential
Transmembrane1518 – 154124Helical; Name=S1 of repeat IV; Potential
Topological domain1542 – 155211Extracellular Potential
Transmembrane1553 – 157624Helical; Name=S2 of repeat IV; Potential
Topological domain1577 – 15826Cytoplasmic Potential
Transmembrane1583 – 160624Helical; Name=S3 of repeat IV; Potential
Topological domain1607 – 161610Extracellular Potential
Transmembrane1617 – 163822Helical; Voltage-sensor; Name=S4 of repeat IV; Potential
Topological domain1639 – 165315Cytoplasmic Potential
Transmembrane1654 – 167623Helical; Name=S5 of repeat IV; Potential
Topological domain1677 – 174165Extracellular Potential
Transmembrane1742 – 176625Helical; Name=S6 of repeat IV; Potential
Topological domain1767 – 1980214Cytoplasmic Potential
Repeat114 – 442329I
Repeat735 – 1007273II
Repeat1180 – 1495316III
Repeat1504 – 1801298IV
Domain1895 – 192430IQ
Nucleotide binding893 – 9008ATP Potential

Amino acid modifications

Modified residue14971Phosphoserine; by PKC By similarity
Glycosylation2151N-linked (GlcNAc...) Potential
Glycosylation2891N-linked (GlcNAc...) Potential
Glycosylation2951N-linked (GlcNAc...) Potential
Glycosylation3081N-linked (GlcNAc...) Potential
Glycosylation3261N-linked (GlcNAc...) Potential
Glycosylation13581N-linked (GlcNAc...) Potential
Glycosylation13721N-linked (GlcNAc...) Potential
Glycosylation13831N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence2071I → V in isoform 2. Ref.2
VSP_050589
Alternative sequence2121N → D in isoform 2. Ref.2
VSP_050590
Alternative sequence6661E → EVKIDKAATDDS in isoform 3. Ref.2
VSP_050591
Alternative sequence1275 – 131541Missing in isoform 5.
VSP_038651
Alternative sequence1275 – 12839SLVSLIANA → PLNLSGLI in isoform 4. Ref.1
VSP_050592
Alternative sequence1284 – 1980697Missing in isoform 4. Ref.1
VSP_050593
Natural variant17681N → D in EIEE13; gain-of-function mutation; results in increased persistent sodium currents and incomplete channel inactivation. Ref.9
VAR_067539

Experimental info

Sequence conflict51L → V in AAF35390. Ref.5
Sequence conflict1331V → L in AAD15789. Ref.1
Sequence conflict2571L → M in AAF35390. Ref.5
Sequence conflict2731F → I in ACM63162. Ref.3
Sequence conflict274 – 2785MGNLR → HGEPS in AAF35390. Ref.5
Sequence conflict4531T → N in AAF35390. Ref.5
Sequence conflict4771S → F in AAF35390. Ref.5
Sequence conflict4831L → I in AAF35390. Ref.5
Sequence conflict4921R → S in AAF35390. Ref.5
Sequence conflict5041S → F in AAF35390. Ref.5
Sequence conflict547 – 5482LL → MF in AAF35390. Ref.5
Sequence conflict14161M → V in ACM63162. Ref.3
Sequence conflict14451V → I in AAD15789. Ref.1
Sequence conflict15191V → I in AAD15789. Ref.1
Sequence conflict17021T → A in AAF35390. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 0EFC7BFB137FD4F0

FASTA1,980225,280
        10         20         30         40         50         60 
MAARLLAPPG PDSFKPFTPE SLANIERRIA ESKLKKPPKA DGSHREDDED SKPKPNSDLE 

        70         80         90        100        110        120 
AGKSLPFIYG DIPQGLVAVP LEDFDPYYLT QKTFVVLNRG KTLFRFSATP ALYILSPFNL 

       130        140        150        160        170        180 
IRRIAIKILI HSVFSMIIMC TILTNCVFMT FSNPPDWSKN VEYTFTGIYT FESLVKIIAR 

       190        200        210        220        230        240 
GFCIDGFTFL RDPWNWLDFS VIMMAYITEF VNLGNVSALR TFRVLRALKT ISVIPGLKTI 

       250        260        270        280        290        300 
VGALIQSVKK LSDVMILTVF CLSVFALIGL QLFMGNLRNK CVVWPINFNE SYLENGTKGF 

       310        320        330        340        350        360 
DWEEYINNKT NFYTVPGMLE PLLCGNSSDA GQCPEGYQCM KAGRNPNYGY TSFDTFSWAF 

       370        380        390        400        410        420 
LALFRLMTQD YWENLYQLTL RAAGKTYMIF FVLVIFVGSF YLVNLILAVV AMAYEEQNQA 

       430        440        450        460        470        480 
TLEEAEQKEA EFKAMLEQLK KQQEEAQAAA MATSAGTVSE DAIEEEGEEG GGSPRSSSEI 

       490        500        510        520        530        540 
SKLSSKSAKE RRNRRKKRKQ KELSEGEEKG DPEKVFKSES EDGMRRKAFR LPDNRIGRKF 

       550        560        570        580        590        600 
SIMNQSLLSI PGSPFLSRHN SKSSIFSFRG PGRFRDPGSE NEFADDEHST VEESEGRRDS 

       610        620        630        640        650        660 
LFIPIRARER RSSYSGYSGY SQGSRSSRIF PSLRRSVKRN STVDCNGVVS LIGGPGSHIG 

       670        680        690        700        710        720 
GRLLPEATTE VEIKKKGPGS LLVSMDQLAS YGRKDRINSI MSVVTNTLVE ELEESQRKCP 

       730        740        750        760        770        780 
PCWYKFANTF LIWECHPYWI KLKEIVNLIV MDPFVDLAIT ICIVLNTLFM AMEHHPMTPQ 

       790        800        810        820        830        840 
FEHVLAVGNL VFTGIFTAEM FLKLIAMDPY YYFQEGWNIF DGFIVSLSLM ELSLADVEGL 

       850        860        870        880        890        900 
SVLRSFRLLR VFKLAKSWPT LNMLIKIIGN SVGALGNLTL VLAIIVFIFA VVGMQLFGKS 

       910        920        930        940        950        960 
YKECVCKINQ DCELPRWHMH DFFHSFLIVF RVLCGEWIET MWDCMEVAGQ AMCLIVFMMV 

       970        980        990       1000       1010       1020 
MVIGNLVVLN LFLALLLSSF SADNLAATDD DGEMNNLQIS VIRIKKGVAW TKLKVHAFMQ 

      1030       1040       1050       1060       1070       1080 
AHFKQREADE VKPLDELYEK KANCIANHTG ADIHRNGDFQ KNGNGTTSGI GSSVEKYIID 

      1090       1100       1110       1120       1130       1140 
EDHMSFINNP NLTVRVPIAV GESDFENLNT EDVSSESDPE GSKDKLDDTS SSEGSTIDIK 

      1150       1160       1170       1180       1190       1200 
PEVEEVPVEQ PEEYLDPDAC FTEGCVQRFK CCQVNIEEGL GKSWWILRKT CFLIVEHNWF 

      1210       1220       1230       1240       1250       1260 
ETFIIFMILL SSGALAFEDI YIEQRKTIRT ILEYADKVFT YIFILEMLLK WTAYGFVKFF 

      1270       1280       1290       1300       1310       1320 
TNAWCWLDFL IVAVSLVSLI ANALGYSELG AIKSLRTLRA LRPLRALSRF EGMRVVVNAL 

      1330       1340       1350       1360       1370       1380 
VGAIPSIMNV LLVCLIFWLI FSIMGVNLFA GKYHYCFNET SEIRFEIEDV NNKTECEKLM 

      1390       1400       1410       1420       1430       1440 
EGNNTEIRWK NVKINFDNVG AGYLALLQVA TFKGWMDIMY AAVDSRKPDE QPKYEDNIYM 

      1450       1460       1470       1480       1490       1500 
YIYFVIFIIF GSFFTLNLFI GVIIDNFNQQ KKKFGGQDIF MTEEQKKYYN AMKKLGSKKP 

      1510       1520       1530       1540       1550       1560 
QKPIPRPLNK IQGIVFDFVT QQAFDIVIMM LICLNMVTMM VETDTQSKQM ENILYWINLV 

      1570       1580       1590       1600       1610       1620 
FVIFFTCECV LKMFALRHYY FTIGWNIFDF VVVILSIVGM FLADIIEKYF VSPTLFRVIR 

      1630       1640       1650       1660       1670       1680 
LARIGRILRL IKGAKGIRTL LFALMMSLPA LFNIGLLLFL VMFIFSIFGM SNFAYVKHEA 

      1690       1700       1710       1720       1730       1740 
GIDDMFNFET FGNSMICLFQ ITTSAGWDGL LLPILNRPPD CSLDKEHPGS GFKGDCGNPS 

      1750       1760       1770       1780       1790       1800 
VGIFFFVSYI IISFLIVVNM YIAIILENFS VATEESADPL SEDDFETFYE IWEKFDPDAT 

      1810       1820       1830       1840       1850       1860 
QFIEYCKLAD FADALEHPLR VPKPNTIELI AMDLPMVSGD RIHCLDILFA FTKRVLGDSG 

      1870       1880       1890       1900       1910       1920 
ELDILRQQME ERFVASNPSK VSYEPITTTL RRKQEEVSAV VLQRAYRGHL ARRGFICKKT 

      1930       1940       1950       1960       1970       1980 
TSNKLENGGT HREKKESTPS TASLPSYDSV TKPEKEKQQR AEEGRRERAK RQKEVRESKC 

« Hide

Isoform 2 (5A) [UniParc].

Checksum: 0510CF3CC31892F0
Show »

FASTA1,980225,267
Isoform 3 [UniParc].

Checksum: 8C830A4CA55C69DE
Show »

FASTA1,991226,424
Isoform 4 (18N) [UniParc].

Checksum: 43D3C2BD00DD44E5
Show »

FASTA1,282145,118
Isoform 5 [UniParc].

Checksum: 3E44D910D3897BC4
Show »

FASTA1,939220,798

References

« Hide 'large scale' references
[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: Brain and Fetal brain.
[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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF050736 expand/collapse EMBL AC list , 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.
RefSeqNP_001171455.1. NM_001177984.2.
NP_055006.1. NM_014191.3.
UniGeneHs.436550.
Hs.710638.

3D structure databases

ProteinModelPortalQ9UQD0.
SMRQ9UQD0. Positions 128-273, 352-420, 763-977, 1188-1471, 1515-1915.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112238. 1 interaction.
IntActQ9UQD0. 1 interaction.
STRING9606.ENSP00000346534.

Chemistry

BindingDBQ9UQD0.
ChEMBLCHEMBL2331043.
DrugBankDB00555. Lamotrigine.
GuidetoPHARMACOLOGY583.

Protein family/group databases

TCDB1.A.1.10.8. the voltage-gated ion channel (vic) superfamily.

PTM databases

PhosphoSiteQ9UQD0.

Polymorphism databases

DMDM34098756.

Proteomic databases

PaxDbQ9UQD0.
PRIDEQ9UQD0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000354534; ENSP00000346534; ENSG00000196876. [Q9UQD0-1]
ENST00000545061; ENSP00000440360; ENSG00000196876. [Q9UQD0-5]
GeneID6334.
KEGGhsa:6334.
UCSCuc001ryw.4. human. [Q9UQD0-1]
uc010snl.3. human. [Q9UQD0-5]

Organism-specific databases

CTD6334.
GeneCardsGC12P051987.
HGNCHGNC:10596. SCN8A.
HPACAB022169.
MIM600702. gene.
614306. phenotype.
614558. phenotype.
neXtProtNX_Q9UQD0.
Orphanet1934. Early infantile epileptic encephalopathy.
PharmGKBPA35009.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1226.
HOGENOMHOG000231755.
HOVERGENHBG053100.
KOK04840.
OMAGFICKKT.
PhylomeDBQ9UQD0.
TreeFamTF323985.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

ArrayExpressQ9UQD0.
BgeeQ9UQD0.
CleanExHS_SCN8A.
GenevestigatorQ9UQD0.

Family and domain databases

Gene3D1.20.120.350. 4 hits.
InterProIPR027359. 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]
PfamPF11933. DUF3451. 1 hit.
PF00520. Ion_trans. 4 hits.
PF00612. IQ. 1 hit.
PF06512. Na_trans_assoc. 1 hit.
[Graphical view]
PRINTSPR00170. NACHANNEL.
PR01667. NACHANNEL8.
SMARTSM00015. IQ. 1 hit.
[Graphical view]
PROSITEPS50096. IQ. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSCN8A. human.
GeneWikiSCN8A.
GenomeRNAi6334.
NextBio24596.
PROQ9UQD0.
SOURCESearch...

Entry information

Entry nameSCN8A_HUMAN
AccessionPrimary (citable) accession number: Q9UQD0
Secondary accession number(s): B9VWG8 expand/collapse secondary AC list , O95788, Q9NYX2, Q9UPB2
Entry history
Integrated into UniProtKB/Swiss-Prot: August 15, 2003
Last sequence update: May 1, 2000
Last modified: April 16, 2014
This is version 123 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM