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Q01118 (SCN7A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 137. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SCN7A
Synonyms:SCN6A
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1682 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Heart and uterus.

Domain

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.

Sequence similarities

Belongs to the sodium channel (TC 1.A.1.10) family. SCN7A subfamily. [View classification]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 16821682Sodium channel protein type 7 subunit alpha
PRO_0000048499

Regions

Topological domain1 – 113113Cytoplasmic Potential
Transmembrane114 – 14027Helical; Name=S1 of repeat I; By similarity
Topological domain141 – 1422Extracellular Potential
Transmembrane143 – 16826Helical; Name=S2 of repeat I; By similarity
Topological domain169 – 17911Cytoplasmic Potential
Transmembrane180 – 20223Helical; Name=S3 of repeat I; By similarity
Topological domain2031Extracellular Potential
Transmembrane204 – 22320Helical; Voltage-sensor; Name=S4 of repeat I; By similarity
Topological domain224 – 23916Cytoplasmic Potential
Transmembrane240 – 26425Helical; Name=S5 of repeat I; By similarity
Topological domain265 – 368104Extracellular Potential
Transmembrane369 – 39527Helical; Name=S6 of repeat I; By similarity
Topological domain396 – 500105Cytoplasmic Potential
Transmembrane501 – 52424Helical; Name=S1 of repeat II; By similarity
Topological domain525 – 53511Extracellular Potential
Transmembrane536 – 55924Helical; Name=S2 of repeat II; By similarity
Topological domain560 – 5667Cytoplasmic Potential
Transmembrane567 – 59024Helical; Name=S3 of repeat II; By similarity
Topological domain591 – 5922Extracellular Potential
Transmembrane593 – 60917Helical; Voltage-sensor; Name=S4 of repeat II; By similarity
Topological domain610 – 62920Cytoplasmic Potential
Transmembrane630 – 65021Helical; Name=S5 of repeat II; By similarity
Topological domain651 – 70454Extracellular Potential
Transmembrane705 – 72824Helical; Name=S6 of repeat II; By similarity
Topological domain729 – 929201Cytoplasmic Potential
Transmembrane930 – 95829Helical; Name=S1 of repeat III; By similarity
Topological domain959 – 9657Extracellular Potential
Transmembrane966 – 99126Helical; Name=S2 of repeat III; By similarity
Topological domain992 – 9965Cytoplasmic Potential
Transmembrane997 – 101923Helical; Name=S3 of repeat III; By similarity
Topological domain1020 – 10212Extracellular Potential
Transmembrane1022 – 104019Helical; Voltage-sensor; Name=S4 of repeat III; By similarity
Topological domain1041 – 105919Cytoplasmic Potential
Transmembrane1060 – 108021Helical; Name=S5 of repeat III; By similarity
Topological domain1081 – 116686Extracellular Potential
Transmembrane1167 – 119327Helical; Name=S6 of repeat III; By similarity
Topological domain1194 – 124754Cytoplasmic Potential
Transmembrane1248 – 127023Helical; Name=S1 of repeat IV; By similarity
Topological domain1271 – 128010Extracellular Potential
Transmembrane1281 – 130525Helical; Name=S2 of repeat IV; By similarity
Topological domain1306 – 13116Cytoplasmic Potential
Transmembrane1312 – 133524Helical; Name=S3 of repeat IV; By similarity
Topological domain1336 – 13449Extracellular Potential
Transmembrane1345 – 136925Helical; Voltage-sensor; Name=S4 of repeat IV; By similarity
Topological domain1370 – 13789Cytoplasmic Potential
Transmembrane1379 – 140527Helical; Name=S5 of repeat IV; By similarity
Topological domain1406 – 146964Extracellular Potential
Transmembrane1470 – 149627Helical; Name=S6 of repeat IV; By similarity
Topological domain1497 – 1682186Cytoplasmic Potential

Amino acid modifications

Modified residue4421Phosphoserine; by PKA Potential
Modified residue7771Phosphothreonine; by PKA Potential
Modified residue8691Phosphoserine; by PKA Potential
Modified residue9051Phosphoserine; by PKA Potential
Glycosylation2761N-linked (GlcNAc...) Potential
Glycosylation2811N-linked (GlcNAc...) Potential
Glycosylation3091N-linked (GlcNAc...) Potential
Glycosylation11031N-linked (GlcNAc...) Potential
Glycosylation11131N-linked (GlcNAc...) Potential

Natural variations

Natural variant411T → N. Ref.1
Corresponds to variant rs7565062 [ dbSNP | Ensembl ].
VAR_063120
Natural variant4071I → V.
Corresponds to variant rs11888208 [ dbSNP | Ensembl ].
VAR_024410
Natural variant6001M → L.
Corresponds to variant rs34183637 [ dbSNP | Ensembl ].
VAR_055641
Natural variant9581M → I. Ref.1
Corresponds to variant rs6738031 [ dbSNP | Ensembl ].
VAR_063121
Natural variant13131A → V.
Corresponds to variant rs6760593 [ dbSNP | Ensembl ].
VAR_055642
Natural variant15161R → K.
Corresponds to variant rs34799257 [ dbSNP | Ensembl ].
VAR_055643
Natural variant15961V → L.
Corresponds to variant rs3791251 [ dbSNP | Ensembl ].
VAR_055644
Natural variant16571D → G.
Corresponds to variant rs35344714 [ dbSNP | Ensembl ].
VAR_055645

Experimental info

Sequence conflict3611Q → L in AAA59899. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q01118 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: 38CD8D41975BCE18

FASTA1,682193,493
        10         20         30         40         50         60 
MLASPEPKGL VPFTKESFEL IKQHIAKTHN EDHEEEDLKP TPDLEVGKKL PFIYGNLSQG 

        70         80         90        100        110        120 
MVSEPLEDVD PYYYKKKNTF IVLNKNRTIF RFNAASILCT LSPFNCIRRT TIKVLVHPFF 

       130        140        150        160        170        180 
QLFILISVLI DCVFMSLTNL PKWRPVLENT LLGIYTFEIL VKLFARGVWA GSFSFLGDPW 

       190        200        210        220        230        240 
NWLDFSVTVF EVIIRYSPLD FIPTLQTART LRILKIIPLN QGLKSLVGVL IHCLKQLIGV 

       250        260        270        280        290        300 
IILTLFFLSI FSLIGMGLFM GNLKHKCFRW PQENENETLH NRTGNPYYIR ETENFYYLEG 

       310        320        330        340        350        360 
ERYALLCGNR TDAGQCPEGY VCVKAGINPD QGFTNFDSFG WALFALFRLM AQDYPEVLYH 

       370        380        390        400        410        420 
QILYASGKVY MIFFVVVSFL FSFYMASLFL GILAMAYEEE KQRVGEISKK IEPKFQQTGK 

       430        440        450        460        470        480 
ELQEGNETDE AKTIQIEMKK RSPISTDTSL DVLEDATLRH KEELEKSKKI CPLYWYKFAK 

       490        500        510        520        530        540 
TFLIWNCSPC WLKLKEFVHR IIMAPFTDLF LIICIILNVC FLTLEHYPMS KQTNTLLNIG 

       550        560        570        580        590        600 
NLVFIGIFTA EMIFKIIAMH PYGYFQVGWN IFDSMIVFHG LIELCLANVA GMALLRLFRM 

       610        620        630        640        650        660 
LRIFKLGKYW PTFQILMWSL SNSWVALKDL VLLLFTFIFF SAAFGMKLFG KNYEEFVCHI 

       670        680        690        700        710        720 
DKDCQLPRWH MHDFFHSFLN VFRILCGEWV ETLWDCMEVA GQSWCIPFYL MVILIGNLLV 

       730        740        750        760        770        780 
LYLFLALVSS FSSCKDVTAE ENNEAKNLQL AVARIKKGIN YVLLKILCKT QNVPKDTMDH 

       790        800        810        820        830        840 
VNEVYVKEDI SDHTLSELSN TQDFLKDKEK SSGTEKNATE NESQSLIPSP SVSETVPIAS 

       850        860        870        880        890        900 
GESDIENLDN KEIQSKSGDG GSKEKIKQSS SSECSTVDIA ISEEEEMFYG GERSKHLKNG 

       910        920        930        940        950        960 
CRRGSSLGQI SGASKKGKIW QNIRKTCCKI VENNWFKCFI GLVTLLSTGT LAFEDIYMDQ 

       970        980        990       1000       1010       1020 
RKTIKILLEY ADMIFTYIFI LEMLLKWMAY GFKAYFSNGW YRLDFVVVIV FCLSLIGKTR 

      1030       1040       1050       1060       1070       1080 
EELKPLISMK FLRPLRVLSQ FERMKVVVRA LIKTTLPTLN VFLVCLMIWL IFSIMGVDLF 

      1090       1100       1110       1120       1130       1140 
AGRFYECIDP TSGERFPSSE VMNKSRCESL LFNESMLWEN AKMNFDNVGN GFLSLLQVAT 

      1150       1160       1170       1180       1190       1200 
FNGWITIMNS AIDSVAVNIQ PHFEVNIYMY CYFINFIIFG VFLPLSMLIT VIIDNFNKHK 

      1210       1220       1230       1240       1250       1260 
IKLGGSNIFI TVKQRKQYRR LKKLMYEDSQ RPVPRPLNKL QGFIFDVVTS QAFNVIVMVL 

      1270       1280       1290       1300       1310       1320 
ICFQAIAMMI DTDVQSLQMS IALYWINSIF VMLYTMECIL KLIAFRCFYF TIAWNIFDFM 

      1330       1340       1350       1360       1370       1380 
VVIFSITGLC LPMTVGSYLV PPSLVQLILL SRIIHMLRLG KGPKVFHNLM LPLMLSLPAL 

      1390       1400       1410       1420       1430       1440 
LNIILLIFLV MFIYAVFGMY NFAYVKKEAG INDVSNFETF GNSMLCLFQV AIFAGWDGML 

      1450       1460       1470       1480       1490       1500 
DAIFNSKWSD CDPDKINPGT QVRGDCGNPS VGIFYFVSYI LISWLIIVNM YIVVVMEFLN 

      1510       1520       1530       1540       1550       1560 
IASKKKNKTL SEDDFRKFFQ VWKRFDPDRT QYIDSSKLSD FAAALDPPLF MAKPNKGQLI 

      1570       1580       1590       1600       1610       1620 
ALDLPMAVGD RIHCLDILLA FTKRVMGQDV RMEKVVSEIE SGFLLANPFK ITCEPITTTL 

      1630       1640       1650       1660       1670       1680 
KRKQEAVSAT IIQRAYKNYR LRRNDKNTSD IHMIDGDRDV HATKEGAYFD KAKEKSPIQS 


QI 

« Hide

References

« Hide 'large scale' references
[1]"Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family."
George A.L. Jr., Knittle T.J., Tamkun M.M.
Proc. Natl. Acad. Sci. U.S.A. 89:4893-4897(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ASN-41 AND ILE-958.
Tissue: Fetal skeletal muscle and Heart.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M91556 mRNA. Translation: AAA59899.1.
AC074101 Genomic DNA. No translation available.
AC092583 Genomic DNA. No translation available.
CCDSCCDS46442.1.
PIRA45380.
RefSeqNP_002967.2. NM_002976.3.
XP_006712743.1. XM_006712680.1.
XP_006712744.1. XM_006712681.1.
XP_006712745.1. XM_006712682.1.
UniGeneHs.596087.
Hs.644853.

3D structure databases

ProteinModelPortalQ01118.
SMRQ01118. Positions 119-259, 498-728, 930-1194, 1253-1649.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000386796.

Chemistry

ChEMBLCHEMBL2331043.

PTM databases

PhosphoSiteQ01118.

Polymorphism databases

DMDM296452902.

Proteomic databases

PaxDbQ01118.
PRIDEQ01118.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000409855; ENSP00000386796; ENSG00000136546.
GeneID6332.
KEGGhsa:6332.
UCSCuc002udu.2. human.

Organism-specific databases

CTD6332.
GeneCardsGC02M167225.
HGNCHGNC:10594. SCN7A.
HPAHPA004879.
MIM182392. gene.
neXtProtNX_Q01118.
PharmGKBPA35008.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG268129.
HOGENOMHOG000231755.
HOVERGENHBG053100.
InParanoidQ01118.
KOK04839.
OMALEYADMI.
OrthoDBEOG7DJSK9.
PhylomeDBQ01118.
TreeFamTF323985.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.

Gene expression databases

ArrayExpressQ01118.
BgeeQ01118.
CleanExHS_SCN7A.
GenevestigatorQ01118.

Family and domain databases

Gene3D1.20.120.350. 4 hits.
InterProIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR000048. IQ_motif_EF-hand-BS.
IPR028812. Na_channel_a7su.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
[Graphical view]
PANTHERPTHR10037:SF14. PTHR10037:SF14. 1 hit.
PfamPF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
[Graphical view]
PRINTSPR00170. NACHANNEL.
SMARTSM00015. IQ. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSCN7A.
GenomeRNAi6332.
NextBio24592.
PROQ01118.
SOURCESearch...

Entry information

Entry nameSCN7A_HUMAN
AccessionPrimary (citable) accession number: Q01118
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 137 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM