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Protein

Sodium channel protein type 7 subunit alpha

Gene

SCN7A

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

GO - Biological processi

  • membrane depolarization during action potential Source: GO_Central
  • muscle contraction Source: ProtInc
  • neuronal action potential Source: GO_Central
  • regulation of ion transmembrane transport Source: UniProtKB-KW
  • sodium ion transport Source: ProtInc

Keywordsi

Molecular functionIon channel, Sodium channel, Voltage-gated channel
Biological processIon transport, Sodium transport, Transport
LigandSodium

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000136546.13
HGNCiHGNC:10594 SCN7A
MIMi182392 gene
neXtProtiNX_Q01118

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 118CytoplasmicCuratedAdd BLAST118
Transmembranei119 – 137Helical; Name=S1 of repeat IBy similarityAdd BLAST19
Topological domaini138 – 144ExtracellularCurated7
Transmembranei145 – 165Helical; Name=S2 of repeat IBy similarityAdd BLAST21
Topological domaini166 – 179CytoplasmicCuratedAdd BLAST14
Transmembranei180 – 197Helical; Name=S3 of repeat IBy similarityAdd BLAST18
Topological domaini198 – 203ExtracellularCurated6
Transmembranei204 – 220Helical; Name=S4 of repeat IBy similarityAdd BLAST17
Topological domaini221 – 239CytoplasmicCuratedAdd BLAST19
Transmembranei240 – 259Helical; Name=S5 of repeat IBy similarityAdd BLAST20
Topological domaini260 – 338ExtracellularCuratedAdd BLAST79
Intramembranei339 – 363Pore-formingBy similarityAdd BLAST25
Topological domaini364 – 370ExtracellularCurated7
Transmembranei371 – 391Helical; Name=S6 of repeat IBy similarityAdd BLAST21
Topological domaini392 – 505CytoplasmicCuratedAdd BLAST114
Transmembranei506 – 524Helical; Name=S1 of repeat IIBy similarityAdd BLAST19
Topological domaini525 – 535ExtracellularCuratedAdd BLAST11
Transmembranei536 – 555Helical; Name=S2 of repeat IIBy similarityAdd BLAST20
Topological domaini556 – 569CytoplasmicCuratedAdd BLAST14
Transmembranei570 – 589Helical; Name=S3 of repeat IIBy similarityAdd BLAST20
Topological domaini590 – 591ExtracellularCurated2
Transmembranei592 – 609Helical; Name=S4 of repeat IIBy similarityAdd BLAST18
Topological domaini610 – 625CytoplasmicCuratedAdd BLAST16
Transmembranei626 – 644Helical; Name=S5 of repeat IIBy similarityAdd BLAST19
Topological domaini645 – 673ExtracellularCuratedAdd BLAST29
Intramembranei674 – 694Pore-formingBy similarityAdd BLAST21
Topological domaini695 – 707ExtracellularCuratedAdd BLAST13
Transmembranei708 – 727Helical; Name=S6 of repeat IIBy similarityAdd BLAST20
Topological domaini728 – 935CytoplasmicCuratedAdd BLAST208
Transmembranei936 – 953Helical; Name=S1 of repeat IIIBy similarityAdd BLAST18
Topological domaini954 – 966ExtracellularCuratedAdd BLAST13
Transmembranei967 – 985Helical; Name=S2 of repeat IIIBy similarityAdd BLAST19
Topological domaini986 – 999CytoplasmicCuratedAdd BLAST14
Transmembranei1000 – 1018Helical; Name=S3 of repeat IIIBy similarityAdd BLAST19
Topological domaini1019 – 1021ExtracellularCurated3
Transmembranei1022 – 1040Helical; Name=S4 of repeat IIIBy similarityAdd BLAST19
Topological domaini1041 – 1057CytoplasmicCuratedAdd BLAST17
Transmembranei1058 – 1077Helical; Name=S5 of repeat IIIBy similarityAdd BLAST20
Topological domaini1078 – 1128ExtracellularCuratedAdd BLAST51
Intramembranei1129 – 1150Pore-formingBy similarityAdd BLAST22
Topological domaini1151 – 1167ExtracellularCuratedAdd BLAST17
Transmembranei1168 – 1189Helical; Name=S6 of repeat IIIBy similarityAdd BLAST22
Topological domaini1190 – 1252CytoplasmicCuratedAdd BLAST63
Transmembranei1253 – 1270Helical; Name=S1 of repeat IVBy similarityAdd BLAST18
Topological domaini1271 – 1281ExtracellularCuratedAdd BLAST11
Transmembranei1282 – 1300Helical; Name=S2 of repeat IVBy similarityAdd BLAST19
Topological domaini1301 – 1312CytoplasmicCuratedAdd BLAST12
Transmembranei1313 – 1330Helical; Name=S3 of repeat IVBy similarityAdd BLAST18
Topological domaini1331 – 1343ExtracellularCuratedAdd BLAST13
Transmembranei1344 – 1360Helical; Name=S4 of repeat IVBy similarityAdd BLAST17
Topological domaini1361 – 1379CytoplasmicCuratedAdd BLAST19
Transmembranei1380 – 1397Helical; Name=S5 of repeat IVBy similarityAdd BLAST18
Topological domaini1398 – 1419ExtracellularCuratedAdd BLAST22
Intramembranei1420 – 1442Pore-formingBy similarityAdd BLAST23
Topological domaini1443 – 1472ExtracellularCuratedAdd BLAST30
Transmembranei1473 – 1495Helical; Name=S6 of repeat IVBy similarityAdd BLAST23
Topological domaini1496 – 1682CytoplasmicCuratedAdd BLAST187

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
Disulfide bondi267 ↔ 316By similarity
Glycosylationi276N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi281N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi309N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei442Phosphoserine; by PKASequence analysis1
Disulfide bondi696 ↔ 705By similarity
Modified residuei777Phosphothreonine; by PKASequence analysis1
Modified residuei843PhosphoserineCombined sources1
Modified residuei869Phosphoserine; by PKASequence analysis1
Modified residuei905Phosphoserine; by PKASequence analysis1
Glycosylationi1103N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1113N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

Lacks the cysteine which covalently binds the conotoxin GVIIJ. This cysteine (position 656) is speculated in other sodium channel subunits alpha to be implied in covalent binding with the sodium channel subunit beta-2 or beta-4.By similarity

Keywords - PTMi

Disulfide bond, 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
SMRiQ01118
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
OMAiGMYNFAY
OrthoDBiEOG091G00FK
PhylomeDBiQ01118
TreeFamiTF323985

Family and domain databases

Gene3Di1.20.120.350, 4 hits
InterProiView protein in InterPro
IPR005821 Ion_trans_dom
IPR028812 Na_channel_a7su
IPR001696 Na_channel_asu
IPR010526 Na_trans_assoc
IPR027359 Volt_channel_dom_sf
PANTHERiPTHR10037:SF14 PTHR10037:SF14, 1 hit
PfamiView protein in Pfam
PF00520 Ion_trans, 4 hits
PF06512 Na_trans_assoc, 1 hit
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 → N1 PublicationCorresponds to variant dbSNP:rs7565062Ensembl.1
Natural variantiVAR_024410407I → V. Corresponds to variant dbSNP:rs11888208Ensembl.1
Natural variantiVAR_055641600M → L. Corresponds to variant dbSNP:rs34183637Ensembl.1
Natural variantiVAR_063121958M → I1 PublicationCorresponds to variant dbSNP:rs6738031Ensembl.1
Natural variantiVAR_0556421313A → V. Corresponds to variant dbSNP:rs6760593Ensembl.1
Natural variantiVAR_0556431516R → K. Corresponds to variant dbSNP:rs34799257Ensembl.1
Natural variantiVAR_0556441596V → L. Corresponds to variant dbSNP:rs3791251Ensembl.1
Natural variantiVAR_0556451657D → G. Corresponds to variant dbSNP:rs35344714Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiSCN7A_HUMAN
AccessioniPrimary (citable) accession number: Q01118
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: May 18, 2010
Last modified: April 25, 2018
This is version 171 of the entry and version 2 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health