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Protein

Sodium channel protein type 7 subunit alpha

Gene

SCN7A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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.Curated

GO - Molecular functioni

  • voltage-gated sodium channel activity Source: ProtInc

GO - Biological processi

  • membrane depolarization during action potential Source: GO_Central
  • muscle contraction Source: ProtInc
  • neuronal action potential Source: GO_Central
  • sodium ion homeostasis Source: Ensembl
  • sodium ion transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Sodium transport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000136546-MONOMER.
ReactomeiR-HSA-445095. Interaction between L1 and Ankyrins.
R-HSA-5576892. Phase 0 - rapid depolarisation.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium channel protein type 7 subunit alpha
Alternative name(s):
Putative voltage-gated sodium channel subunit alpha Nax
Sodium channel protein cardiac and skeletal muscle subunit alpha
Sodium channel protein type VII subunit alpha
Gene namesi
Name:SCN7A
Synonyms:SCN6A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:10594. SCN7A.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 113CytoplasmicSequence analysisAdd BLAST113
Transmembranei114 – 140Helical; Name=S1 of repeat IBy similarityAdd BLAST27
Topological domaini141 – 142ExtracellularSequence analysis2
Transmembranei143 – 168Helical; Name=S2 of repeat IBy similarityAdd BLAST26
Topological domaini169 – 179CytoplasmicSequence analysisAdd BLAST11
Transmembranei180 – 202Helical; Name=S3 of repeat IBy similarityAdd BLAST23
Topological domaini203ExtracellularSequence analysis1
Transmembranei204 – 223Helical; Voltage-sensor; Name=S4 of repeat IBy similarityAdd BLAST20
Topological domaini224 – 239CytoplasmicSequence analysisAdd BLAST16
Transmembranei240 – 264Helical; Name=S5 of repeat IBy similarityAdd BLAST25
Topological domaini265 – 368ExtracellularSequence analysisAdd BLAST104
Transmembranei369 – 395Helical; Name=S6 of repeat IBy similarityAdd BLAST27
Topological domaini396 – 500CytoplasmicSequence analysisAdd BLAST105
Transmembranei501 – 524Helical; Name=S1 of repeat IIBy similarityAdd BLAST24
Topological domaini525 – 535ExtracellularSequence analysisAdd BLAST11
Transmembranei536 – 559Helical; Name=S2 of repeat IIBy similarityAdd BLAST24
Topological domaini560 – 566CytoplasmicSequence analysis7
Transmembranei567 – 590Helical; Name=S3 of repeat IIBy similarityAdd BLAST24
Topological domaini591 – 592ExtracellularSequence analysis2
Transmembranei593 – 609Helical; Voltage-sensor; Name=S4 of repeat IIBy similarityAdd BLAST17
Topological domaini610 – 629CytoplasmicSequence analysisAdd BLAST20
Transmembranei630 – 650Helical; Name=S5 of repeat IIBy similarityAdd BLAST21
Topological domaini651 – 704ExtracellularSequence analysisAdd BLAST54
Transmembranei705 – 728Helical; Name=S6 of repeat IIBy similarityAdd BLAST24
Topological domaini729 – 929CytoplasmicSequence analysisAdd BLAST201
Transmembranei930 – 958Helical; Name=S1 of repeat IIIBy similarityAdd BLAST29
Topological domaini959 – 965ExtracellularSequence analysis7
Transmembranei966 – 991Helical; Name=S2 of repeat IIIBy similarityAdd BLAST26
Topological domaini992 – 996CytoplasmicSequence analysis5
Transmembranei997 – 1019Helical; Name=S3 of repeat IIIBy similarityAdd BLAST23
Topological domaini1020 – 1021ExtracellularSequence analysis2
Transmembranei1022 – 1040Helical; Voltage-sensor; Name=S4 of repeat IIIBy similarityAdd BLAST19
Topological domaini1041 – 1059CytoplasmicSequence analysisAdd BLAST19
Transmembranei1060 – 1080Helical; Name=S5 of repeat IIIBy similarityAdd BLAST21
Topological domaini1081 – 1166ExtracellularSequence analysisAdd BLAST86
Transmembranei1167 – 1193Helical; Name=S6 of repeat IIIBy similarityAdd BLAST27
Topological domaini1194 – 1247CytoplasmicSequence analysisAdd BLAST54
Transmembranei1248 – 1270Helical; Name=S1 of repeat IVBy similarityAdd BLAST23
Topological domaini1271 – 1280ExtracellularSequence analysis10
Transmembranei1281 – 1305Helical; Name=S2 of repeat IVBy similarityAdd BLAST25
Topological domaini1306 – 1311CytoplasmicSequence analysis6
Transmembranei1312 – 1335Helical; Name=S3 of repeat IVBy similarityAdd BLAST24
Topological domaini1336 – 1344ExtracellularSequence analysis9
Transmembranei1345 – 1369Helical; Voltage-sensor; Name=S4 of repeat IVBy similarityAdd BLAST25
Topological domaini1370 – 1378CytoplasmicSequence analysis9
Transmembranei1379 – 1405Helical; Name=S5 of repeat IVBy similarityAdd BLAST27
Topological domaini1406 – 1469ExtracellularSequence analysisAdd BLAST64
Transmembranei1470 – 1496Helical; Name=S6 of repeat IVBy similarityAdd BLAST27
Topological domaini1497 – 1682CytoplasmicSequence analysisAdd BLAST186

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi6332.
OpenTargetsiENSG00000136546.
PharmGKBiPA35008.

Chemistry databases

ChEMBLiCHEMBL3585.
DrugBankiDB00313. Valproic Acid.

Polymorphism and mutation databases

BioMutaiSCN7A.
DMDMi296452902.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000484991 – 1682Sodium channel protein type 7 subunit alphaAdd BLAST1682

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi276N-linked (GlcNAc...)Sequence analysis1
Glycosylationi281N-linked (GlcNAc...)Sequence analysis1
Glycosylationi309N-linked (GlcNAc...)Sequence analysis1
Modified residuei442Phosphoserine; by PKASequence analysis1
Modified residuei777Phosphothreonine; by PKASequence analysis1
Modified residuei843PhosphoserineCombined sources1
Modified residuei869Phosphoserine; by PKASequence analysis1
Modified residuei905Phosphoserine; by PKASequence analysis1
Glycosylationi1103N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1113N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ01118.
PeptideAtlasiQ01118.
PRIDEiQ01118.

PTM databases

iPTMnetiQ01118.
PhosphoSitePlusiQ01118.

Expressioni

Tissue specificityi

Heart and uterus.1 Publication

Gene expression databases

BgeeiENSG00000136546.
CleanExiHS_SCN7A.
ExpressionAtlasiQ01118. baseline and differential.
GenevisibleiQ01118. HS.

Organism-specific databases

HPAiHPA004879.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000386796.

Chemistry databases

BindingDBiQ01118.

Structurei

3D structure databases

ProteinModelPortaliQ01118.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati100 – 401ICuratedAdd BLAST302
Repeati487 – 758IICuratedAdd BLAST272
Repeati916 – 1224IIICuratedAdd BLAST309
Repeati1233 – 1531IVCuratedAdd BLAST299

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.Curated

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410INF4. Eukaryota.
ENOG410Y1Z2. LUCA.
GeneTreeiENSGT00830000128242.
HOGENOMiHOG000231755.
HOVERGENiHBG053100.
InParanoidiQ01118.
KOiK04839.
OMAiLEYADMI.
OrthoDBiEOG091G00FK.
PhylomeDBiQ01118.
TreeFamiTF323985.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR028812. Na_channel_a7su.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
[Graphical view]
PANTHERiPTHR10037:SF14. PTHR10037:SF14. 1 hit.
PfamiPF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
[Graphical view]
PRINTSiPR00170. NACHANNEL.

Sequencei

Sequence statusi: Complete.

Q01118-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLASPEPKGL VPFTKESFEL IKQHIAKTHN EDHEEEDLKP TPDLEVGKKL
60 70 80 90 100
PFIYGNLSQG MVSEPLEDVD PYYYKKKNTF IVLNKNRTIF RFNAASILCT
110 120 130 140 150
LSPFNCIRRT TIKVLVHPFF QLFILISVLI DCVFMSLTNL PKWRPVLENT
160 170 180 190 200
LLGIYTFEIL VKLFARGVWA GSFSFLGDPW NWLDFSVTVF EVIIRYSPLD
210 220 230 240 250
FIPTLQTART LRILKIIPLN QGLKSLVGVL IHCLKQLIGV IILTLFFLSI
260 270 280 290 300
FSLIGMGLFM GNLKHKCFRW PQENENETLH NRTGNPYYIR ETENFYYLEG
310 320 330 340 350
ERYALLCGNR TDAGQCPEGY VCVKAGINPD QGFTNFDSFG WALFALFRLM
360 370 380 390 400
AQDYPEVLYH QILYASGKVY MIFFVVVSFL FSFYMASLFL GILAMAYEEE
410 420 430 440 450
KQRVGEISKK IEPKFQQTGK ELQEGNETDE AKTIQIEMKK RSPISTDTSL
460 470 480 490 500
DVLEDATLRH KEELEKSKKI CPLYWYKFAK TFLIWNCSPC WLKLKEFVHR
510 520 530 540 550
IIMAPFTDLF LIICIILNVC FLTLEHYPMS KQTNTLLNIG NLVFIGIFTA
560 570 580 590 600
EMIFKIIAMH PYGYFQVGWN IFDSMIVFHG LIELCLANVA GMALLRLFRM
610 620 630 640 650
LRIFKLGKYW PTFQILMWSL SNSWVALKDL VLLLFTFIFF SAAFGMKLFG
660 670 680 690 700
KNYEEFVCHI DKDCQLPRWH MHDFFHSFLN VFRILCGEWV ETLWDCMEVA
710 720 730 740 750
GQSWCIPFYL MVILIGNLLV LYLFLALVSS FSSCKDVTAE ENNEAKNLQL
760 770 780 790 800
AVARIKKGIN YVLLKILCKT QNVPKDTMDH VNEVYVKEDI SDHTLSELSN
810 820 830 840 850
TQDFLKDKEK SSGTEKNATE NESQSLIPSP SVSETVPIAS GESDIENLDN
860 870 880 890 900
KEIQSKSGDG GSKEKIKQSS SSECSTVDIA ISEEEEMFYG GERSKHLKNG
910 920 930 940 950
CRRGSSLGQI SGASKKGKIW QNIRKTCCKI VENNWFKCFI GLVTLLSTGT
960 970 980 990 1000
LAFEDIYMDQ RKTIKILLEY ADMIFTYIFI LEMLLKWMAY GFKAYFSNGW
1010 1020 1030 1040 1050
YRLDFVVVIV FCLSLIGKTR EELKPLISMK FLRPLRVLSQ FERMKVVVRA
1060 1070 1080 1090 1100
LIKTTLPTLN VFLVCLMIWL IFSIMGVDLF AGRFYECIDP TSGERFPSSE
1110 1120 1130 1140 1150
VMNKSRCESL LFNESMLWEN AKMNFDNVGN GFLSLLQVAT FNGWITIMNS
1160 1170 1180 1190 1200
AIDSVAVNIQ PHFEVNIYMY CYFINFIIFG VFLPLSMLIT VIIDNFNKHK
1210 1220 1230 1240 1250
IKLGGSNIFI TVKQRKQYRR LKKLMYEDSQ RPVPRPLNKL QGFIFDVVTS
1260 1270 1280 1290 1300
QAFNVIVMVL ICFQAIAMMI DTDVQSLQMS IALYWINSIF VMLYTMECIL
1310 1320 1330 1340 1350
KLIAFRCFYF TIAWNIFDFM VVIFSITGLC LPMTVGSYLV PPSLVQLILL
1360 1370 1380 1390 1400
SRIIHMLRLG KGPKVFHNLM LPLMLSLPAL LNIILLIFLV MFIYAVFGMY
1410 1420 1430 1440 1450
NFAYVKKEAG INDVSNFETF GNSMLCLFQV AIFAGWDGML DAIFNSKWSD
1460 1470 1480 1490 1500
CDPDKINPGT QVRGDCGNPS VGIFYFVSYI LISWLIIVNM YIVVVMEFLN
1510 1520 1530 1540 1550
IASKKKNKTL SEDDFRKFFQ VWKRFDPDRT QYIDSSKLSD FAAALDPPLF
1560 1570 1580 1590 1600
MAKPNKGQLI ALDLPMAVGD RIHCLDILLA FTKRVMGQDV RMEKVVSEIE
1610 1620 1630 1640 1650
SGFLLANPFK ITCEPITTTL KRKQEAVSAT IIQRAYKNYR LRRNDKNTSD
1660 1670 1680
IHMIDGDRDV HATKEGAYFD KAKEKSPIQS QI
Length:1,682
Mass (Da):193,493
Last modified:May 18, 2010 - v2
Checksum:i38CD8D41975BCE18
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti361Q → L in AAA59899 (PubMed:1317577).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06312041T → N.1 PublicationCorresponds to variant rs7565062dbSNPEnsembl.1
Natural variantiVAR_024410407I → V.Corresponds to variant rs11888208dbSNPEnsembl.1
Natural variantiVAR_055641600M → L.Corresponds to variant rs34183637dbSNPEnsembl.1
Natural variantiVAR_063121958M → I.1 PublicationCorresponds to variant rs6738031dbSNPEnsembl.1
Natural variantiVAR_0556421313A → V.Corresponds to variant rs6760593dbSNPEnsembl.1
Natural variantiVAR_0556431516R → K.Corresponds to variant rs34799257dbSNPEnsembl.1
Natural variantiVAR_0556441596V → L.Corresponds to variant rs3791251dbSNPEnsembl.1
Natural variantiVAR_0556451657D → G.Corresponds to variant rs35344714dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M91556 mRNA. Translation: AAA59899.1.
AC074101 Genomic DNA. No translation available.
AC092583 Genomic DNA. No translation available.
CCDSiCCDS46442.1.
PIRiA45380.
RefSeqiNP_002967.2. NM_002976.3.
XP_006712743.1. XM_006712680.2.
XP_006712744.1. XM_006712681.3.
XP_006712745.1. XM_006712682.3.
XP_011509917.1. XM_011511615.2.
XP_016860156.1. XM_017004667.1.
UniGeneiHs.596087.
Hs.644853.

Genome annotation databases

EnsembliENST00000409855; ENSP00000386796; ENSG00000136546.
ENST00000619410; ENSP00000478562; ENSG00000136546.
ENST00000621965; ENSP00000481734; ENSG00000136546.
GeneIDi6332.
KEGGihsa:6332.
UCSCiuc002udu.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M91556 mRNA. Translation: AAA59899.1.
AC074101 Genomic DNA. No translation available.
AC092583 Genomic DNA. No translation available.
CCDSiCCDS46442.1.
PIRiA45380.
RefSeqiNP_002967.2. NM_002976.3.
XP_006712743.1. XM_006712680.2.
XP_006712744.1. XM_006712681.3.
XP_006712745.1. XM_006712682.3.
XP_011509917.1. XM_011511615.2.
XP_016860156.1. XM_017004667.1.
UniGeneiHs.596087.
Hs.644853.

3D structure databases

ProteinModelPortaliQ01118.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000386796.

Chemistry databases

BindingDBiQ01118.
ChEMBLiCHEMBL3585.
DrugBankiDB00313. Valproic Acid.

PTM databases

iPTMnetiQ01118.
PhosphoSitePlusiQ01118.

Polymorphism and mutation databases

BioMutaiSCN7A.
DMDMi296452902.

Proteomic databases

PaxDbiQ01118.
PeptideAtlasiQ01118.
PRIDEiQ01118.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000409855; ENSP00000386796; ENSG00000136546.
ENST00000619410; ENSP00000478562; ENSG00000136546.
ENST00000621965; ENSP00000481734; ENSG00000136546.
GeneIDi6332.
KEGGihsa:6332.
UCSCiuc002udu.3. human.

Organism-specific databases

CTDi6332.
DisGeNETi6332.
GeneCardsiSCN7A.
HGNCiHGNC:10594. SCN7A.
HPAiHPA004879.
MIMi182392. gene.
neXtProtiNX_Q01118.
OpenTargetsiENSG00000136546.
PharmGKBiPA35008.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410INF4. Eukaryota.
ENOG410Y1Z2. LUCA.
GeneTreeiENSGT00830000128242.
HOGENOMiHOG000231755.
HOVERGENiHBG053100.
InParanoidiQ01118.
KOiK04839.
OMAiLEYADMI.
OrthoDBiEOG091G00FK.
PhylomeDBiQ01118.
TreeFamiTF323985.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000136546-MONOMER.
ReactomeiR-HSA-445095. Interaction between L1 and Ankyrins.
R-HSA-5576892. Phase 0 - rapid depolarisation.

Miscellaneous databases

GeneWikiiSCN7A.
GenomeRNAii6332.
PROiQ01118.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136546.
CleanExiHS_SCN7A.
ExpressionAtlasiQ01118. baseline and differential.
GenevisibleiQ01118. HS.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR028812. Na_channel_a7su.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
[Graphical view]
PANTHERiPTHR10037:SF14. PTHR10037:SF14. 1 hit.
PfamiPF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
[Graphical view]
PRINTSiPR00170. NACHANNEL.
ProtoNetiSearch...

Entry informationi

Entry nameiSCN7A_HUMAN
AccessioniPrimary (citable) accession number: Q01118
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 160 of the entry and version 2 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 2
    Human chromosome 2: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.