Protein detail

SCN8A

Sodium channel protein type 8 subunit alpha (Sodium channel protein type VIII subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.6)

Entry name SCN8A	UniProt ID Q9UQD0	EVMP score 0.50
Frequency 1	Transmembrane count 24	Protein classification

EVMP score: annotation confidence score.

Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40

Basic Information

Protein Names

Sodium channel protein type 8 subunit alpha (Sodium channel protein type VIII subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.6)

Protein Function

Predicted intracellular proteins
Human disease related genes:Nervous system diseases:Epilepsy
Voltage-gated ion channels:Voltage-Gated Sodium Channels
Transporters:Transporter channels and pores
Disease related genes
FDA approved drug targets:Small molecule drugs

Transmembrane

133..151; Helical; Name=S1 of repeat I; 159..179; Helical; Name=S2 of repeat I; 194..211; Helical; Name=S3 of repeat I; 218..234; Helical; Name=S4 of repeat I; 254..273; Helical; Name=S5 of repeat I; 388..408; Helical; Name=S6 of repeat I; 754..772; Helical; Name=S1 of repeat II; 784..803; Helical; Name=S2 of repeat II; 818..837; Helical; Name=S3 of repeat II; 840..857; Helical; Name=S4 of repeat II; 874..892; Helical; Name=S5 of repeat II; 956..976; Helical; Name=S6 of repeat II; 1200..1217; Helical; Name=S1 of repeat III; 1231..1249; Helical; Name=S2 of repeat III; 1264..1282; Helical; Name=S3 of repeat III; 1291..1309; Helical; Name=S4 of repeat III; 1327..1346; Helical; Name=S5 of repeat III; 1439..1460; Helical; Name=S6 of repeat III; 1524..1541; Helical; Name=S1 of repeat IV; 1553..1571; Helical; Name=S2 of repeat IV; 1584..1601; Helical; Name=S3 of repeat IV; 1615..1631; Helical; Name=S4 of repeat IV; 1651..1668; Helical; Name=S5 of repeat IV; 1743..1765; Helical; Name=S6 of repeat IV

Transmembrane Count

Ensembl

ENSG00000196876

Entrez Gene Symbol

SCN8A

Frequency

EVMP Score

0.50

Fluorescence & Localization

Function & Pathway

Protein Function

Predicted intracellular proteins
Human disease related genes:Nervous system diseases:Epilepsy
Voltage-gated ion channels:Voltage-Gated Sodium Channels
Transporters:Transporter channels and pores
Disease related genes
FDA approved drug targets:Small molecule drugs

Cellular Component

Molecular Function

Biological Process

KEGG

hsa04517 IgSF CAM signaling

Reactome

Mediation Categories

Clinical-translation mediationFusion and delivery mediation

Relations & Evidence

Enzyme-Mediated Modification

4 records.

Substrate Gene Symbol	Enzyme Gene Symbol	Enzyme UniProt ID	Residue Type	Residue Offset	Modification	Database
SCN8A	CAMK2A	Q9UQM7	T	642	phosphorylation	PhosphoSite
SCN8A	CAMK2A	Q9UQM7	S	541	phosphorylation	PhosphoSite
SCN8A	CAMK2A	Q9UQM7	S	561	phosphorylation	PhosphoSite
SCN8A	CAMK2A	Q9UQM7	S	641	phosphorylation	PhosphoSite

Ligand-Receptor Signaling

31 records.

Category	Parent	Database	Transmitter	Receiver	Secreted	Plasma Membrane (Transmembrane)	Plasma Membrane (Peripheral)
transmembrane	transmembrane	Ramilowski_location	No	No	No	No	No
transmembrane	transmembrane	OmniPath	No	No	No	No	No
peripheral	peripheral	UniProt_topology	No	No	No	No	No
peripheral	peripheral	OmniPath	No	No	No	No	No
plasma_membrane	plasma_membrane	UniProt_location	No	No	No	No	No
plasma_membrane	plasma_membrane	Cellinker	No	No	No	No	No
plasma_membrane	plasma_membrane	OmniPath	No	No	No	No	No
cell_surface	cell_surface	Surfaceome	No	No	No	No	No
cell_surface	cell_surface	connectomeDB2020	No	No	No	No	No
cell_surface	cell_surface	OmniPath	No	No	No	No	No

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Regulatory Interaction Network

13 records.

Source Protein Symbol	Source UniProt ID	Target Protein Symbol	Target UniProt ID	Is Directed	Is Stimulation	Is Inhibition	Database	References
KCC2B	Q13554	SCN8A	Q9UQD0	Yes	Yes	No	SIGNOR	SIGNOR:32611770
FGF14	Q92915	SCN8A	Q9UQD0	Yes	No	Yes	HINTSIGNORBioGRIDIntAct	IntAct:22364545 SIGNOR:20679355 HINT:25659151 IntAct:25659151 BioGRID:29359916 HINT:29359916
KCC2A	Q9UQM7	SCN8A	Q9UQD0	Yes	Yes	No	PhosphoSite_norefSIGNORProtMapperPhosphoSitePhosphoSite_ProtMapper	PhosphoSite:32611770 SIGNOR:32611770

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Protein Complex Composition

1 record.

Component Name	Component Gene Symbols	Component UniProt ID	Stoichiometry	Database	Database IDs	References
	SCN1B SCN8A	Q07699 Q9UQD0	1:1	PDB	PDB:8fhd

Isolation & Detection Technology

1 record.

EV Isolation Method	Detection Method	Number of References	References
Differential Ultracentrifugation	Mass spectrometry	1	24196483

Sequence, Structure & Domains

Sequences

Length

1,980

Mass

225,280

Sequence

MAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLEAGKSLPFIYGDIPQGLVAVPLEDFDPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNLIRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESLVKIIARGFCIDGFTFLRDPWNWLDFSVIMMAYITEFVNLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGFDWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFDTFSWAFLALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQATLEEAEQKEAEFKAMLEQLKKQQEEAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEISKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDNRIGRKFSIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDSLFIPIRARERRSSYSGYSGYSQGSRSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIGGRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEESQRKCPPCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQFEHVLAVGNLVFTGIFTAEMFLKLIAMDPYYYFQEGWNIFDGFIVSLSLMELSLADVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKINQDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDGEMNNLQISVIRIKKGVAWTKLKVHAFMQAHFKQREADEVKPLDELYEKKANCIANHTGADIHRNGDFQKNGNGTTSGIGSSVEKYIIDEDHMSFINNPNLTVRVPIAVGESDFENLNTEDVSSESDPEGSKDKLDDTSSSEGSTIDIKPEVEEVPVEQPEEYLDPDACFTEGCVQRFKCCQVNIEEGLGKSWWILRKTCFLIVEHNWFETFIIFMILLSSGALAFEDIYIEQRKTIRTILEYADKVFTYIFILEMLLKWTAYGFVKFFTNAWCWLDFLIVAVSLVSLIANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKYHYCFNETSEIRFEIEDVNNKTECEKLMEGNNTEIRWKNVKINFDNVGAGYLALLQVATFKGWMDIMYAAVDSRKPDEQPKYEDNIYMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPLNKIQGIVFDFVTQQAFDIVIMMLICLNMVTMMVETDTQSKQMENILYWINLVFVIFFTCECVLKMFALRHYYFTIGWNIFDFVVVILSIVGMFLADIIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIFSIFGMSNFAYVKHEAGIDDMFNFETFGNSMICLFQITTSAGWDGLLLPILNRPPDCSLDKEHPGSGFKGDCGNPSVGIFFFVSYIIISFLIVVNMYIAIILENFSVATEESADPLSEDDFETFYEIWEKFDPDATQFIEYCKLADFADALEHPLRVPKPNTIELIAMDLPMVSGDRIHCLDILFAFTKRVLGDSGELDILRQQMEERFVASNPSKVSYEPITTTLRRKQEEVSAVVLQRAYRGHLARRGFICKKTTSNKLENGGTHREKKESTPSTASLPSYDSVTKPEKEKQQRAEEGRRERAKRQKEVRESKC

Alternative Products

Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q9UQD0-1; Sequence=Displayed; Name=2; Synonyms=5A; IsoId=Q9UQD0-2; Sequence=VSP_050589, VSP_050590; Name=3; IsoId=Q9UQD0-3; Sequence=VSP_050591; Name=4; Synonyms=18N; IsoId=Q9UQD0-4; Sequence=VSP_050592, VSP_050593; Name=5; Synonyms=Delta18; IsoId=Q9UQD0-5; Sequence=VSP_038651

Alternative Sequence

207; I -> V (in isoform 2); 212; N -> D (in isoform 2); 666; E -> EVKIDKAATDDS (in isoform 3); 1275..1315; Missing (in isoform 5); 1275..1283; SLVSLIANA -> PLNLSGLI (in isoform 4); 1284..1980; Missing (in isoform 4)

3D Structural Models

Turn

57..59; 112..114; 274..277; 302..307; 346..350; 369..371; 397..399; 748..750; 834..836; 872..875; 1302..1305; 1307..1309; 1359..1362; 1367..1369; 1451..1453; 1510..1513; 1573..1575; 1703..1706; 1707..1715; 1718..1720

Helix

19..34; 67..69; 117..119; 122..129; 132..150; 156..158; 159..179; 189..191; 193..207; 216..223; 224..228; 229..233; 237..249; 253..272; 288..290; 309..311; 356..367; 372..383; 385..387; 388..396; 401..443; 722..730; 739..747; 753..770; 779..806; 809..813; 820..832; 840..843; 847..856; 859..871; 876..897; 900..903; 905..907; 922..934; 938..948; 951..979; 981..983; 996..1006; 1179..1196; 1200..1214; 1220..1223; 1226..1254; 1256..1260; 1263..1284; 1290..1296; 1297..1301; 1311..1346; 1373..1379; 1399..1410; 1415..1424; 1438..1440; 1441..1450; 1454..1474; 1483..1496; 1514..1519; 1522..1538; 1548..1572; 1585..1605; 1615..1620; 1621..1631; 1635..1672; 1691..1702; 1739..1772

Beta Strand

60..63; 89..91; 94..97; 103..106; 151..153; 182..187; 208..210; 278..283; 294..297; 326..330; 337..341; 353..355; 815..817; 837..839; 919..921; 986..988; 1176..1178; 1349..1351; 1354..1358; 1386..1391; 1427..1430; 1580..1584; 1673..1676; 1684..1690

3D Structure

Electron microscopy (3)

Domain & Motif Annotations

Compositional Bias

28..61; Basic and acidic residues; 474..486; Low complexity; 489..500; Basic residues; 501..530; Basic and acidic residues; 586..602; Basic and acidic residues; 1938..1949; Polar residues; 1951..1980; Basic and acidic residues

Repeat

114..442; I; 735..1007; II; 1180..1495; III; 1504..1801; IV

Domain (CC)

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.

Domain (FT)

1895..1924; IQ

Region

1..20; Disordered; 28..62; Disordered; 446..530; Disordered; 568..602; Disordered; 1107..1148; Disordered; 1922..1980; Disordered

Protein Families

Sodium channel (TC 1.A.1.10) family
Nav1.6/SCN8A subfamily

Sequence Similarities

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

Clinical Relevance

Related Diseases

Epilepsy/seizure Epileptic encephalopathy

Biomarker

Phase 1; Phase 2

Drugs