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Q9WTU3

- SCN8A_MOUSE

UniProt

Q9WTU3 - SCN8A_MOUSE

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Protein

Sodium channel protein type 8 subunit alpha

Gene
Scn8a, Nbna1
Organism
Mus musculus (Mouse)
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, isoform 5 may participate in the control of podosome and invadopodia formation.2 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi891 – 8988ATP Reviewed prediction1 Publication

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
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

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)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Unplaced

Organism-specific databases

MGIiMGI:103169. Scn8a.

Subcellular locationi

Membrane; Multi-pass membrane protein 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; Name=S4 of repeat I; Reviewed predictionAdd
BLAST
Topological domaini238 – 25215Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei253 – 27725Helical; Voltage-sensor; 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 – 745332Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei746 – 77025Helical; Name=S1 of repeat II; Reviewed predictionAdd
BLAST
Topological domaini771 – 78111Extracellular Reviewed predictionAdd
BLAST
Transmembranei782 – 80524Helical; Name=S2 of repeat II; Reviewed predictionAdd
BLAST
Topological domaini806 – 8138Cytoplasmic Reviewed prediction
Transmembranei814 – 83320Helical; Name=S3 of repeat II; Reviewed predictionAdd
BLAST
Topological domaini834 – 8396Extracellular Reviewed prediction
Transmembranei840 – 86021Helical; Voltage-sensor; Name=S4 of repeat II; Reviewed predictionAdd
BLAST
Topological domaini861 – 87515Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei876 – 89621Helical; Name=S5 of repeat II; Reviewed predictionAdd
BLAST
Topological domaini897 – 94953Extracellular Reviewed predictionAdd
BLAST
Transmembranei950 – 97526Helical; Name=S6 of repeat II; Reviewed predictionAdd
BLAST
Topological domaini976 – 1191216Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei1192 – 121524Helical; Name=S1 of repeat III; Reviewed predictionAdd
BLAST
Topological domaini1216 – 122813Extracellular Reviewed predictionAdd
BLAST
Transmembranei1229 – 125426Helical; Name=S2 of repeat III; Reviewed predictionAdd
BLAST
Topological domaini1255 – 12606Cytoplasmic Reviewed prediction
Transmembranei1261 – 128222Helical; Name=S3 of repeat III; Reviewed predictionAdd
BLAST
Topological domaini1283 – 12864Extracellular Reviewed prediction
Transmembranei1287 – 130822Helical; Voltage-sensor; Name=S4 of repeat III; Reviewed predictionAdd
BLAST
Topological domaini1309 – 132719Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei1328 – 134922Helical; Name=S5 of repeat III; Reviewed predictionAdd
BLAST
Topological domaini1350 – 143586Extracellular Reviewed predictionAdd
BLAST
Transmembranei1436 – 146227Helical; Name=S6 of repeat III; Reviewed predictionAdd
BLAST
Topological domaini1463 – 151553Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei1516 – 153924Helical; Name=S1 of repeat IV; Reviewed predictionAdd
BLAST
Topological domaini1540 – 155011Extracellular Reviewed predictionAdd
BLAST
Transmembranei1551 – 157424Helical; Name=S2 of repeat IV; Reviewed predictionAdd
BLAST
Topological domaini1575 – 15806Cytoplasmic Reviewed prediction
Transmembranei1581 – 160424Helical; Name=S3 of repeat IV; Reviewed predictionAdd
BLAST
Topological domaini1605 – 161410Extracellular Reviewed prediction
Transmembranei1615 – 163622Helical; Voltage-sensor; Name=S4 of repeat IV; Reviewed predictionAdd
BLAST
Topological domaini1637 – 165115Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei1652 – 167423Helical; Name=S5 of repeat IV; Reviewed predictionAdd
BLAST
Topological domaini1675 – 173965Extracellular Reviewed predictionAdd
BLAST
Transmembranei1740 – 176425Helical; Name=S6 of repeat IV; Reviewed predictionAdd
BLAST
Topological domaini1765 – 1978214Cytoplasmic Reviewed predictionAdd
BLAST

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
Complete GO annotation...

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.3 Publications
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.3 Publications
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.3 Publications

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...) Reviewed prediction1 Publication
Glycosylationi289 – 2891N-linked (GlcNAc...) Reviewed prediction1 Publication
Glycosylationi295 – 2951N-linked (GlcNAc...) Reviewed prediction1 Publication
Glycosylationi308 – 3081N-linked (GlcNAc...) Reviewed prediction1 Publication
Glycosylationi326 – 3261N-linked (GlcNAc...) Reviewed prediction1 Publication
Glycosylationi1356 – 13561N-linked (GlcNAc...) Reviewed prediction1 Publication
Glycosylationi1370 – 13701N-linked (GlcNAc...) Reviewed prediction1 Publication
Glycosylationi1381 – 13811N-linked (GlcNAc...) Reviewed prediction1 Publication
Modified residuei1495 – 14951Phosphoserine; by PKC By 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.3 Publications

Gene expression databases

CleanExiMM_SCN8A.
GenevestigatoriQ9WTU3.

Interactioni

Subunit structurei

Interacts with FGF13; may regulate SCN8A activity By similarity. Interacts with NEDD4 and NEDD4L.1 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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati114 – 442329I1 PublicationAdd
BLAST
Repeati733 – 1005273II1 PublicationAdd
BLAST
Repeati1178 – 1493316III1 PublicationAdd
BLAST
Repeati1502 – 1799298IV1 PublicationAdd
BLAST
Domaini1893 – 192230IQ1 PublicationAdd
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.1 Publication

Sequence similaritiesi

Contains 1 IQ domain.1 Publication

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: 18A

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: 18N

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

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 conflict

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

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

« Hide 'large scale' publications
  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/6J.
  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/6J.
    Tissue: Brain.
  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/Sv.
    Tissue: Brain.
  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: Brain and Fetal brain.
  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/2WyDi.
  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: July 9, 2014
This is version 116 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

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