Protein detail

SCN1A

Sodium channel protein type 1 subunit alpha (Sodium channel protein brain I subunit alpha) (Sodium channel protein type I subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.1)

Entry name
SCN1A
UniProt ID
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 1 subunit alpha (Sodium channel protein brain I subunit alpha) (Sodium channel protein type I subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.1)
Protein Function
  • Human disease related genes:Nervous system diseases:Other nervous and sensory system diseases
  • 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
129..146; Helical; Name=S1 of repeat I; 153..177; Helical; Name=S2 of repeat I; 189..205; Helical; Name=S3 of repeat I; 214..235; Helical; Name=S4 of repeat I; 246..269; Helical; Name=S5 of repeat I; 398..423; Helical; Name=S6 of repeat I; 769..787; Helical; Name=S1 of repeat II; 798..820; Helical; Name=S2 of repeat II; 831..849; Helical; Name=S3 of repeat II; 855..874; Helical; Name=S4 of repeat II; 892..912; Helical; Name=S5 of repeat II; 966..992; Helical; Name=S6 of repeat II; 1219..1237; Helical; Name=S1 of repeat III; 1251..1276; Helical; Name=S2 of repeat III; 1279..1304; Helical; Name=S3 of repeat III; 1314..1332; Helical; Name=S4 of repeat III; 1346..1369; Helical; Name=S5 of repeat III; 1458..1483; Helical; Name=S6 of repeat III; 1542..1560; Helical; Name=S1 of repeat IV; 1572..1593; Helical; Name=S2 of repeat IV; 1602..1623; Helical; Name=S3 of repeat IV; 1637..1655; Helical; Name=S4 of repeat IV; 1666..1688; Helical; Name=S5 of repeat IV; 1760..1788; Helical; Name=S6 of repeat IV
Transmembrane Count
24
Entrez Gene Symbol
Frequency
1
EVMP Score
0.50
Fluorescence & Localization
SCN1A fluorescence
Tissue SpecifictestisCell SpecificEarly spermatidsSingle-Nuclei Brain Specifichippocampal dentate gyrus
Function & Pathway
Protein Function
  • Human disease related genes:Nervous system diseases:Other nervous and sensory system diseases
  • 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
Canonical Pathways
  • M277 Pid integrin a4b1 pathway
  • M159 Pid amb2 neutrophils pathway
  • M18 Pid integrin1 pathway
Mediation Categories
Fusion and delivery mediation
Relations & Evidence

Enzyme-Mediated Modification

0 records.

Ligand-Receptor Signaling

33 records.

CategoryParentDatabaseTransmitterReceiverSecretedPlasma Membrane (Transmembrane)Plasma Membrane (Peripheral)
transmembranetransmembraneUniProt_keywordNoNoNoNoNo
transmembranetransmembraneTopDBNoNoNoNoNo
transmembranetransmembraneLOCATENoNoNoNoNo
transmembranetransmembraneRamilowski_locationNoNoNoNoNo
transmembranetransmembraneOmniPathNoNoNoNoNo
peripheralperipheralUniProt_topologyNoNoNoNoNo
peripheralperipheralOmniPathNoNoNoNoNo
plasma_membraneplasma_membraneUniProt_locationNoNoNoNoNo
plasma_membraneplasma_membraneOmniPathNoNoNoNoNo
cell_surfacecell_surfaceSurfaceomeNoNoNoNoNo
Page 3 of 4PreviousNext

Regulatory Interaction Network

5 records.

Source Protein SymbolSource UniProt IDTarget Protein SymbolTarget UniProt IDIs DirectedIs StimulationIs InhibitionDatabaseReferences
FGF12P61328SCN1AP35498YesNoYesDIPSIGNORSIGNOR:20679355DIP:22705208
FGF13Q92913SCN1AP35498YesNoYesSIGNORSIGNOR:20679355
FGF14Q92915SCN1AP35498YesNoYesSIGNORSIGNOR:20679355
FGF11Q92914SCN1AP35498YesNoYesSIGNORSIGNOR:20679355
NED4LQ96PU5SCN1AP35498YesNoYesSIGNORSIGNOR:23778145

Protein Complex Composition

1 record.

Component NameComponent Gene SymbolsComponent UniProt IDStoichiometryDatabaseDatabase IDsReferences
CHD1CPSF6CSNK2A1H2AXH2BC21H3-3AH3C11H4C4SCN1ASMARCA5SSRP1SUPT16HTOP2AO14646O60264P11388P16104P35498P62805P68400P68431P84243Q08945Q16630Q16778Q9Y5B91:1:1:1:1:1:1:1:1:1:1:1:1NetworkBlastCompleatCompleat:HC3752

Isolation & Detection Technology

1 record.

EV Isolation MethodDetection MethodNumber of ReferencesReferences
Differential UltracentrifugationFACSMass spectrometry138902710
Sequence, Structure & Domains

Sequences

Length
2,009
Mass
228,972
Sequence
MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKNLPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKIAIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCIQWPPTNASLEEHSIEKNITVNYNGTLINETVFEFDWKSYIQDSRYHYFLEGFLDALLCGNSSDAGQCPEGYMCVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMIEQLKKQQEAAQQAATATASEHSREPSAAGRLSDSSSEASKLSSKSAKERRNRRKKRKQKEQSGGEEKDEDEFQKSESEDSIRRKGFRFSIEGNRLTYEKRYSSPHQSLLSIRGSLFSPRRNSRTSLFSFRGRAKDVGSENDFADDEHSTFEDNESRRDSLFVPRRHGERRNSNLSQTSRSSRMLAVFPANGKMHSTVDCNGVVSLVGGPSVPTSPVGQLLPEVIIDKPATDDNGTTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASILTNTVEELEESRQKCPPCWYKFSNIFLIWDCSPYWLKVKHVVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTDHFNNVLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVTLSLVELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKDCVCKIASDCQLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLTVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMHKGVAYVKRKIYEFIQQSFIRKQKILDEIKPLDDLNNKKDSCMSNHTAEIGKDLDYLKDVNGTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEESKEKLNESSSSSEGSTVDIGAPVEEQPVVEPEETLEPEACFTEGCVQRFKCCQINVEEGRGKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINTTTGDRFDIEDVNNHTDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILICLNMVTMMVETDDQSEYVTTILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSKPPDCDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLPQPNKLQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYQPITTTLKRKQEEVSAVIIQRAYRRHLLKRTVKQASFTYNKNKIKGGANLLIKEDMIIDRINENSITEKTDLTMSTAACPPSYDRVTKPIVEKHEQEGKDEKAKGK
Alternative Products
Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P35498-1; Sequence=Displayed; Name=2; IsoId=P35498-2; Sequence=VSP_001031; Name=3; IsoId=P35498-3; Sequence=VSP_045399
Alternative Sequence
654..681; Missing (in isoform 3); 671..681; Missing (in isoform 2)

3D Structural Models

Turn
269..271; 359..362; 763..766; 819..821; 886..890; 1234..1237; 1327..1329; 1379..1381; 1387..1389; 1470..1472; 1622..1627; 1692..1694; 1722..1725
Helix
117..125; 128..145; 152..176; 189..204; 215..225; 226..229; 234..245; 248..268; 272..274; 369..379; 384..395; 397..399; 400..438; 750..762; 770..786; 794..818; 832..847; 856..871; 874..885; 891..911; 915..918; 920..922; 937..949; 954..963; 965..994; 1204..1215; 1218..1233; 1240..1244; 1249..1280; 1283..1304; 1312..1315; 1316..1326; 1331..1341; 1344..1368; 1393..1401; 1418..1430; 1434..1442; 1457..1459; 1460..1469; 1473..1493; 1504..1514; 1530..1539; 1541..1559; 1567..1594; 1603..1620; 1632..1638; 1639..1642; 1643..1646; 1647..1651; 1656..1691; 1710..1721; 1726..1733; 1759..1792
Beta Strand
205..207; 315..318; 322..324; 365..367; 925..927; 1246..1248; 1369..1372; 1375..1378; 1406..1409; 1412..1417; 1703..1709; 1748..1751
3D Structure
Electron microscopy (1)

Domain & Motif Annotations

Compositional Bias
28..48; Basic and acidic residues; 456..466; Low complexity; 479..492; Low complexity; 495..506; Basic residues; 520..529; Basic and acidic residues; 593..607; Basic and acidic residues; 1988..2009; Basic and acidic residues
Repeat
110..454; I; 750..1022; II; 1200..1514; III; 1523..1821; 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: The S3b-S4 and S1-S2 loops of repeat IV are targeted by H.maculata toxins Hm1a and Hm1b, leading to inhibit fast inactivation of Nav1.1/SCN1A. Selectivity for H.maculata toxins Hm1a and Hm1b depends on S1-S2 loops of repeat IV.
Domain (FT)
1915..1944; IQ
Region
28..60; Disordered; 455..529; Disordered; 584..627; Disordered; 1129..1163; Disordered; 1561..1571; S1-S2 loop of repeat IV; 1619..1636; S3b-S4 loop of repeat IV; 1986..2009; Disordered
Protein Families
  • Sodium channel (TC 1.A.1.10) family
  • Nav1.1/SCN1A subfamily
Sequence Similarities
Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.1/SCN1A subfamily.
Clinical Relevance