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Q01118

- SCN7A_HUMAN

UniProt

Q01118 - SCN7A_HUMAN

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Protein

Sodium channel protein type 7 subunit alpha

Gene
SCN7A, SCN6A
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript 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.

GO - Molecular functioni

  1. voltage-gated sodium channel activity Source: RefGenome

GO - Biological processi

  1. membrane depolarization during action potential Source: RefGenome
  2. muscle contraction Source: ProtInc
  3. neuronal action potential Source: RefGenome
  4. sodium ion homeostasis Source: Ensembl
  5. sodium ion transmembrane transport Source: RefGenome
  6. 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

ReactomeiREACT_22266. Interaction between L1 and Ankyrins.

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
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:10594. SCN7A.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 113113Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei114 – 14027Helical; Name=S1 of repeat I; By similarityAdd
BLAST
Topological domaini141 – 1422Extracellular Reviewed prediction
Transmembranei143 – 16826Helical; Name=S2 of repeat I; By similarityAdd
BLAST
Topological domaini169 – 17911Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei180 – 20223Helical; Name=S3 of repeat I; By similarityAdd
BLAST
Topological domaini203 – 2031Extracellular Reviewed prediction
Transmembranei204 – 22320Helical; Voltage-sensor; Name=S4 of repeat I; By similarityAdd
BLAST
Topological domaini224 – 23916Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei240 – 26425Helical; Name=S5 of repeat I; By similarityAdd
BLAST
Topological domaini265 – 368104Extracellular Reviewed predictionAdd
BLAST
Transmembranei369 – 39527Helical; Name=S6 of repeat I; By similarityAdd
BLAST
Topological domaini396 – 500105Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei501 – 52424Helical; Name=S1 of repeat II; By similarityAdd
BLAST
Topological domaini525 – 53511Extracellular Reviewed predictionAdd
BLAST
Transmembranei536 – 55924Helical; Name=S2 of repeat II; By similarityAdd
BLAST
Topological domaini560 – 5667Cytoplasmic Reviewed prediction
Transmembranei567 – 59024Helical; Name=S3 of repeat II; By similarityAdd
BLAST
Topological domaini591 – 5922Extracellular Reviewed prediction
Transmembranei593 – 60917Helical; Voltage-sensor; Name=S4 of repeat II; By similarityAdd
BLAST
Topological domaini610 – 62920Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei630 – 65021Helical; Name=S5 of repeat II; By similarityAdd
BLAST
Topological domaini651 – 70454Extracellular Reviewed predictionAdd
BLAST
Transmembranei705 – 72824Helical; Name=S6 of repeat II; By similarityAdd
BLAST
Topological domaini729 – 929201Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei930 – 95829Helical; Name=S1 of repeat III; By similarityAdd
BLAST
Topological domaini959 – 9657Extracellular Reviewed prediction
Transmembranei966 – 99126Helical; Name=S2 of repeat III; By similarityAdd
BLAST
Topological domaini992 – 9965Cytoplasmic Reviewed prediction
Transmembranei997 – 101923Helical; Name=S3 of repeat III; By similarityAdd
BLAST
Topological domaini1020 – 10212Extracellular Reviewed prediction
Transmembranei1022 – 104019Helical; Voltage-sensor; Name=S4 of repeat III; By similarityAdd
BLAST
Topological domaini1041 – 105919Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei1060 – 108021Helical; Name=S5 of repeat III; By similarityAdd
BLAST
Topological domaini1081 – 116686Extracellular Reviewed predictionAdd
BLAST
Transmembranei1167 – 119327Helical; Name=S6 of repeat III; By similarityAdd
BLAST
Topological domaini1194 – 124754Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei1248 – 127023Helical; Name=S1 of repeat IV; By similarityAdd
BLAST
Topological domaini1271 – 128010Extracellular Reviewed prediction
Transmembranei1281 – 130525Helical; Name=S2 of repeat IV; By similarityAdd
BLAST
Topological domaini1306 – 13116Cytoplasmic Reviewed prediction
Transmembranei1312 – 133524Helical; Name=S3 of repeat IV; By similarityAdd
BLAST
Topological domaini1336 – 13449Extracellular Reviewed prediction
Transmembranei1345 – 136925Helical; Voltage-sensor; Name=S4 of repeat IV; By similarityAdd
BLAST
Topological domaini1370 – 13789Cytoplasmic Reviewed prediction
Transmembranei1379 – 140527Helical; Name=S5 of repeat IV; By similarityAdd
BLAST
Topological domaini1406 – 146964Extracellular Reviewed predictionAdd
BLAST
Transmembranei1470 – 149627Helical; Name=S6 of repeat IV; By similarityAdd
BLAST
Topological domaini1497 – 1682186Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. glial cell projection Source: Ensembl
  2. plasma membrane Source: RefGenome
  3. voltage-gated sodium channel complex Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA35008.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 16821682Sodium channel protein type 7 subunit alphaPRO_0000048499Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi276 – 2761N-linked (GlcNAc...) Reviewed prediction
Glycosylationi281 – 2811N-linked (GlcNAc...) Reviewed prediction
Glycosylationi309 – 3091N-linked (GlcNAc...) Reviewed prediction
Modified residuei442 – 4421Phosphoserine; by PKA Reviewed prediction
Modified residuei777 – 7771Phosphothreonine; by PKA Reviewed prediction
Modified residuei869 – 8691Phosphoserine; by PKA Reviewed prediction
Modified residuei905 – 9051Phosphoserine; by PKA Reviewed prediction
Glycosylationi1103 – 11031N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1113 – 11131N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ01118.
PRIDEiQ01118.

PTM databases

PhosphoSiteiQ01118.

Expressioni

Tissue specificityi

Heart and uterus.

Gene expression databases

ArrayExpressiQ01118.
BgeeiQ01118.
CleanExiHS_SCN7A.
GenevestigatoriQ01118.

Organism-specific databases

HPAiHPA004879.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000386796.

Structurei

3D structure databases

ProteinModelPortaliQ01118.
SMRiQ01118. Positions 119-259, 498-728, 930-1194, 1253-1649.

Family & Domainsi

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.

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG268129.
HOGENOMiHOG000231755.
HOVERGENiHBG053100.
InParanoidiQ01118.
KOiK04839.
OMAiLEYADMI.
OrthoDBiEOG7DJSK9.
PhylomeDBiQ01118.
TreeFamiTF323985.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. 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]
PANTHERiPTHR10037:SF14. PTHR10037:SF14. 1 hit.
PfamiPF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
[Graphical view]
PRINTSiPR00170. NACHANNEL.
SMARTiSM00015. IQ. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q01118-1 [UniParc]FASTAAdd to Basket

« Hide

MLASPEPKGL VPFTKESFEL IKQHIAKTHN EDHEEEDLKP TPDLEVGKKL     50
PFIYGNLSQG MVSEPLEDVD PYYYKKKNTF IVLNKNRTIF RFNAASILCT 100
LSPFNCIRRT TIKVLVHPFF QLFILISVLI DCVFMSLTNL PKWRPVLENT 150
LLGIYTFEIL VKLFARGVWA GSFSFLGDPW NWLDFSVTVF EVIIRYSPLD 200
FIPTLQTART LRILKIIPLN QGLKSLVGVL IHCLKQLIGV IILTLFFLSI 250
FSLIGMGLFM GNLKHKCFRW PQENENETLH NRTGNPYYIR ETENFYYLEG 300
ERYALLCGNR TDAGQCPEGY VCVKAGINPD QGFTNFDSFG WALFALFRLM 350
AQDYPEVLYH QILYASGKVY MIFFVVVSFL FSFYMASLFL GILAMAYEEE 400
KQRVGEISKK IEPKFQQTGK ELQEGNETDE AKTIQIEMKK RSPISTDTSL 450
DVLEDATLRH KEELEKSKKI CPLYWYKFAK TFLIWNCSPC WLKLKEFVHR 500
IIMAPFTDLF LIICIILNVC FLTLEHYPMS KQTNTLLNIG NLVFIGIFTA 550
EMIFKIIAMH PYGYFQVGWN IFDSMIVFHG LIELCLANVA GMALLRLFRM 600
LRIFKLGKYW PTFQILMWSL SNSWVALKDL VLLLFTFIFF SAAFGMKLFG 650
KNYEEFVCHI DKDCQLPRWH MHDFFHSFLN VFRILCGEWV ETLWDCMEVA 700
GQSWCIPFYL MVILIGNLLV LYLFLALVSS FSSCKDVTAE ENNEAKNLQL 750
AVARIKKGIN YVLLKILCKT QNVPKDTMDH VNEVYVKEDI SDHTLSELSN 800
TQDFLKDKEK SSGTEKNATE NESQSLIPSP SVSETVPIAS GESDIENLDN 850
KEIQSKSGDG GSKEKIKQSS SSECSTVDIA ISEEEEMFYG GERSKHLKNG 900
CRRGSSLGQI SGASKKGKIW QNIRKTCCKI VENNWFKCFI GLVTLLSTGT 950
LAFEDIYMDQ RKTIKILLEY ADMIFTYIFI LEMLLKWMAY GFKAYFSNGW 1000
YRLDFVVVIV FCLSLIGKTR EELKPLISMK FLRPLRVLSQ FERMKVVVRA 1050
LIKTTLPTLN VFLVCLMIWL IFSIMGVDLF AGRFYECIDP TSGERFPSSE 1100
VMNKSRCESL LFNESMLWEN AKMNFDNVGN GFLSLLQVAT FNGWITIMNS 1150
AIDSVAVNIQ PHFEVNIYMY CYFINFIIFG VFLPLSMLIT VIIDNFNKHK 1200
IKLGGSNIFI TVKQRKQYRR LKKLMYEDSQ RPVPRPLNKL QGFIFDVVTS 1250
QAFNVIVMVL ICFQAIAMMI DTDVQSLQMS IALYWINSIF VMLYTMECIL 1300
KLIAFRCFYF TIAWNIFDFM VVIFSITGLC LPMTVGSYLV PPSLVQLILL 1350
SRIIHMLRLG KGPKVFHNLM LPLMLSLPAL LNIILLIFLV MFIYAVFGMY 1400
NFAYVKKEAG INDVSNFETF GNSMLCLFQV AIFAGWDGML DAIFNSKWSD 1450
CDPDKINPGT QVRGDCGNPS VGIFYFVSYI LISWLIIVNM YIVVVMEFLN 1500
IASKKKNKTL SEDDFRKFFQ VWKRFDPDRT QYIDSSKLSD FAAALDPPLF 1550
MAKPNKGQLI ALDLPMAVGD RIHCLDILLA FTKRVMGQDV RMEKVVSEIE 1600
SGFLLANPFK ITCEPITTTL KRKQEAVSAT IIQRAYKNYR LRRNDKNTSD 1650
IHMIDGDRDV HATKEGAYFD KAKEKSPIQS QI 1682
Length:1,682
Mass (Da):193,493
Last modified:May 18, 2010 - v2
Checksum:i38CD8D41975BCE18
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti41 – 411T → N.1 Publication
Corresponds to variant rs7565062 [ dbSNP | Ensembl ].
VAR_063120
Natural varianti407 – 4071I → V.
Corresponds to variant rs11888208 [ dbSNP | Ensembl ].
VAR_024410
Natural varianti600 – 6001M → L.
Corresponds to variant rs34183637 [ dbSNP | Ensembl ].
VAR_055641
Natural varianti958 – 9581M → I.1 Publication
Corresponds to variant rs6738031 [ dbSNP | Ensembl ].
VAR_063121
Natural varianti1313 – 13131A → V.
Corresponds to variant rs6760593 [ dbSNP | Ensembl ].
VAR_055642
Natural varianti1516 – 15161R → K.
Corresponds to variant rs34799257 [ dbSNP | Ensembl ].
VAR_055643
Natural varianti1596 – 15961V → L.
Corresponds to variant rs3791251 [ dbSNP | Ensembl ].
VAR_055644
Natural varianti1657 – 16571D → G.
Corresponds to variant rs35344714 [ dbSNP | Ensembl ].
VAR_055645

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti361 – 3611Q → L in AAA59899. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006712680.1.
XP_006712744.1. XM_006712681.1.
XP_006712745.1. XM_006712682.1.
UniGeneiHs.596087.
Hs.644853.

Genome annotation databases

EnsembliENST00000409855; ENSP00000386796; ENSG00000136546.
GeneIDi6332.
KEGGihsa:6332.
UCSCiuc002udu.2. human.

Polymorphism databases

DMDMi296452902.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M91556 mRNA. Translation: AAA59899.1 .
AC074101 Genomic DNA. No translation available.
AC092583 Genomic DNA. No translation available.
CCDSi CCDS46442.1.
PIRi A45380.
RefSeqi NP_002967.2. NM_002976.3.
XP_006712743.1. XM_006712680.1.
XP_006712744.1. XM_006712681.1.
XP_006712745.1. XM_006712682.1.
UniGenei Hs.596087.
Hs.644853.

3D structure databases

ProteinModelPortali Q01118.
SMRi Q01118. Positions 119-259, 498-728, 930-1194, 1253-1649.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000386796.

Chemistry

ChEMBLi CHEMBL2331043.

PTM databases

PhosphoSitei Q01118.

Polymorphism databases

DMDMi 296452902.

Proteomic databases

PaxDbi Q01118.
PRIDEi Q01118.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000409855 ; ENSP00000386796 ; ENSG00000136546 .
GeneIDi 6332.
KEGGi hsa:6332.
UCSCi uc002udu.2. human.

Organism-specific databases

CTDi 6332.
GeneCardsi GC02M167225.
HGNCi HGNC:10594. SCN7A.
HPAi HPA004879.
MIMi 182392. gene.
neXtProti NX_Q01118.
PharmGKBi PA35008.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG268129.
HOGENOMi HOG000231755.
HOVERGENi HBG053100.
InParanoidi Q01118.
KOi K04839.
OMAi LEYADMI.
OrthoDBi EOG7DJSK9.
PhylomeDBi Q01118.
TreeFami TF323985.

Enzyme and pathway databases

Reactomei REACT_22266. Interaction between L1 and Ankyrins.

Miscellaneous databases

GeneWikii SCN7A.
GenomeRNAii 6332.
NextBioi 24592.
PROi Q01118.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q01118.
Bgeei Q01118.
CleanExi HS_SCN7A.
Genevestigatori Q01118.

Family and domain databases

Gene3Di 1.20.120.350. 4 hits.
InterProi IPR027359. 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 ]
PANTHERi PTHR10037:SF14. PTHR10037:SF14. 1 hit.
Pfami PF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
[Graphical view ]
PRINTSi PR00170. NACHANNEL.
SMARTi SM00015. IQ. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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].

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: September 3, 2014
This is version 138 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

External Data

Dasty 3

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