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Q9UQD0

- SCN8A_HUMAN

UniProt

Q9UQD0 - SCN8A_HUMAN

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Protein

Sodium channel protein type 8 subunit alpha

Gene
SCN8A, MED
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 – 9008ATP Reviewed prediction

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
Complete GO annotation...

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)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:10596. SCN8A.

Subcellular locationi

Membrane; 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.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 127127Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei128 – 15124Helical; Name=S1 of repeat I; Reviewed predictionAdd
BLAST
Topological domaini152 – 1598Extracellular Reviewed prediction
Transmembranei160 – 17920Helical; Name=S2 of repeat I; Reviewed predictionAdd
BLAST
Topological domaini180 – 19213Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei193 – 21119Helical; Name=S3 of repeat I; Reviewed predictionAdd
BLAST
Topological domaini212 – 2176Extracellular Reviewed prediction
Transmembranei218 – 23720Helical; Voltage-sensor; Name=S4 of repeat I; Reviewed predictionAdd
BLAST
Topological domaini238 – 25215Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei253 – 27725Helical; Name=S5 of repeat I; Reviewed predictionAdd
BLAST
Topological domaini278 – 387110Extracellular Reviewed predictionAdd
BLAST
Transmembranei388 – 41326Helical; Name=S6 of repeat I; Reviewed predictionAdd
BLAST
Topological domaini414 – 747334Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei748 – 77225Helical; Name=S1 of repeat II; Reviewed predictionAdd
BLAST
Topological domaini773 – 78311Extracellular Reviewed predictionAdd
BLAST
Transmembranei784 – 80724Helical; Name=S2 of repeat II; Reviewed predictionAdd
BLAST
Topological domaini808 – 8158Cytoplasmic Reviewed prediction
Transmembranei816 – 83520Helical; Name=S3 of repeat II; Reviewed predictionAdd
BLAST
Topological domaini836 – 8416Extracellular Reviewed prediction
Transmembranei842 – 86221Helical; Voltage-sensor; Name=S4 of repeat II; Reviewed predictionAdd
BLAST
Topological domaini863 – 87715Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei878 – 89821Helical; Name=S5 of repeat II; Reviewed predictionAdd
BLAST
Topological domaini899 – 95153Extracellular Reviewed predictionAdd
BLAST
Transmembranei952 – 97726Helical; Name=S6 of repeat II; Reviewed predictionAdd
BLAST
Topological domaini978 – 1193216Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei1194 – 121724Helical; Name=S1 of repeat III; Reviewed predictionAdd
BLAST
Topological domaini1218 – 123013Extracellular Reviewed predictionAdd
BLAST
Transmembranei1231 – 125626Helical; Name=S2 of repeat III; Reviewed predictionAdd
BLAST
Topological domaini1257 – 12626Cytoplasmic Reviewed prediction
Transmembranei1263 – 128422Helical; Name=S3 of repeat III; Reviewed predictionAdd
BLAST
Topological domaini1285 – 12884Extracellular Reviewed prediction
Transmembranei1289 – 131022Helical; Voltage-sensor; Name=S4 of repeat III; Reviewed predictionAdd
BLAST
Topological domaini1311 – 132919Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei1330 – 135122Helical; Name=S5 of repeat III; Reviewed predictionAdd
BLAST
Topological domaini1352 – 143786Extracellular Reviewed predictionAdd
BLAST
Transmembranei1438 – 146427Helical; Name=S6 of repeat III; Reviewed predictionAdd
BLAST
Topological domaini1465 – 151753Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei1518 – 154124Helical; Name=S1 of repeat IV; Reviewed predictionAdd
BLAST
Topological domaini1542 – 155211Extracellular Reviewed predictionAdd
BLAST
Transmembranei1553 – 157624Helical; Name=S2 of repeat IV; Reviewed predictionAdd
BLAST
Topological domaini1577 – 15826Cytoplasmic Reviewed prediction
Transmembranei1583 – 160624Helical; Name=S3 of repeat IV; Reviewed predictionAdd
BLAST
Topological domaini1607 – 161610Extracellular Reviewed prediction
Transmembranei1617 – 163822Helical; Voltage-sensor; Name=S4 of repeat IV; Reviewed predictionAdd
BLAST
Topological domaini1639 – 165315Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei1654 – 167623Helical; Name=S5 of repeat IV; Reviewed predictionAdd
BLAST
Topological domaini1677 – 174165Extracellular Reviewed predictionAdd
BLAST
Transmembranei1742 – 176625Helical; Name=S6 of repeat IV; Reviewed predictionAdd
BLAST
Topological domaini1767 – 1980214Cytoplasmic Reviewed predictionAdd
BLAST

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.1 Publication
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...) Reviewed prediction
Glycosylationi289 – 2891N-linked (GlcNAc...) Reviewed prediction
Glycosylationi295 – 2951N-linked (GlcNAc...) Reviewed prediction
Glycosylationi308 – 3081N-linked (GlcNAc...) Reviewed prediction
Glycosylationi326 – 3261N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1358 – 13581N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1372 – 13721N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1383 – 13831N-linked (GlcNAc...) Reviewed prediction
Modified residuei1497 – 14971Phosphoserine; by PKC By 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.1 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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati114 – 442329IAdd
BLAST
Repeati735 – 1007273IIAdd
BLAST
Repeati1180 – 1495316IIIAdd
BLAST
Repeati1504 – 1801298IVAdd
BLAST
Domaini1895 – 192430IQAdd
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.

Sequence similaritiesi

Contains 1 IQ domain.

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: 5A

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: 18N

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

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. VSP_038651Add
BLAST
Alternative sequencei1275 – 12839SLVSLIANA → PLNLSGLI in isoform 4. 1 PublicationVSP_050592
Alternative sequencei1284 – 1980697Missing in isoform 4. 1 PublicationVSP_050593Add
BLAST

Sequence conflict

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

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

EnsembliENST00000354534; ENSP00000346534; ENSG00000196876. [Q9UQD0-1]
ENST00000545061; ENSP00000440360; ENSG00000196876. [Q9UQD0-5]
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

Ensembli ENST00000354534 ; ENSP00000346534 ; ENSG00000196876 . [Q9UQD0-1 ]
ENST00000545061 ; ENSP00000440360 ; ENSG00000196876 . [Q9UQD0-5 ]
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

« Hide 'large scale' publications
  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.
    , 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: September 3, 2014
This is version 127 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

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