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Entry version 178 (13 Feb 2019)
Sequence version 2 (18 May 2010)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • voltage-gated ion channel activity Source: UniProtKB-KW
  • voltage-gated sodium channel activity Source: GO_Central

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-5576892 Phase 0 - rapid depolarisation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SCN7A
Synonyms:SCN6A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000136546.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10594 SCN7A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
182392 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q01118

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 118CytoplasmicCuratedAdd BLAST118
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
6332

Open Targets

More...
OpenTargetsi
ENSG00000136546

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35008

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3585

Drug and drug target database

More...
DrugBanki
DB00313 Valproic Acid

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SCN7A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296452902

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000484991 – 1682Sodium channel protein type 7 subunit alphaAdd BLAST1682

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi267 ↔ 316By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi276N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi281N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi309N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q01118

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q01118

PeptideAtlas

More...
PeptideAtlasi
Q01118

PRoteomics IDEntifications database

More...
PRIDEi
Q01118

ProteomicsDB human proteome resource

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ProteomicsDBi
57921

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1753

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q01118

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q01118

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Heart and uterus.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000136546 Expressed in 173 organ(s), highest expression level in lung

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q01118 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q01118 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA004879

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000386796

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q01118

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q01118

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q01118

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati100 – 401ICuratedAdd BLAST302
Repeati487 – 758IICuratedAdd BLAST272
Repeati916 – 1224IIICuratedAdd BLAST309
Repeati1233 – 1531IVCuratedAdd BLAST299

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410INF4 Eukaryota
ENOG410Y1Z2 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000162042

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231755

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG053100

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q01118

KEGG Orthology (KO)

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KOi
K04839

Identification of Orthologs from Complete Genome Data

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OMAi
YAIFGMY

Database of Orthologous Groups

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OrthoDBi
56920at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q01118

TreeFam database of animal gene trees

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TreeFami
TF323985

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.120.350, 4 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR005821 Ion_trans_dom
IPR028812 Na_channel_a7su
IPR001696 Na_channel_asu
IPR010526 Na_trans_assoc
IPR027359 Volt_channel_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR10037:SF14 PTHR10037:SF14, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00520 Ion_trans, 4 hits
PF06512 Na_trans_assoc, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00170 NACHANNEL

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i38CD8D41975BCE18
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JW43C9JW43_HUMAN
Sodium channel protein type 7 subun...
SCN7A
743Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JII9C9JII9_HUMAN
Sodium channel protein type 7 subun...
SCN7A
402Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WD82F8WD82_HUMAN
Sodium channel protein type 7 subun...
SCN7A
762Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti361Q → L in AAA59899 (PubMed:1317577).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
M91556 mRNA Translation: AAA59899.1
AC074101 Genomic DNA No translation available.
AC092583 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS46442.1

Protein sequence database of the Protein Information Resource

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PIRi
A45380

NCBI Reference Sequences

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RefSeqi
NP_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

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.596087
Hs.644853

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000409855; ENSP00000386796; ENSG00000136546
ENST00000441411; ENSP00000403846; ENSG00000136546
ENST00000619410; ENSP00000478562; ENSG00000136546
ENST00000621965; ENSP00000481734; ENSG00000136546
ENST00000643258; ENSP00000496114; ENSG00000136546

Database of genes from NCBI RefSeq genomes

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GeneIDi
6332

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6332

UCSC genome browser

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UCSCi
uc002udu.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
SMRiQ01118
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000386796

Chemistry databases

BindingDBiQ01118
ChEMBLiCHEMBL3585
DrugBankiDB00313 Valproic Acid

PTM databases

GlyConnecti1753
iPTMnetiQ01118
PhosphoSitePlusiQ01118

Polymorphism and mutation databases

BioMutaiSCN7A
DMDMi296452902

Proteomic databases

jPOSTiQ01118
PaxDbiQ01118
PeptideAtlasiQ01118
PRIDEiQ01118
ProteomicsDBi57921

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000409855; ENSP00000386796; ENSG00000136546
ENST00000441411; ENSP00000403846; ENSG00000136546
ENST00000619410; ENSP00000478562; ENSG00000136546
ENST00000621965; ENSP00000481734; ENSG00000136546
ENST00000643258; ENSP00000496114; ENSG00000136546
GeneIDi6332
KEGGihsa:6332
UCSCiuc002udu.3 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6332
DisGeNETi6332
EuPathDBiHostDB:ENSG00000136546.13

GeneCards: human genes, protein and diseases

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GeneCardsi
SCN7A
HGNCiHGNC:10594 SCN7A
HPAiHPA004879
MIMi182392 gene
neXtProtiNX_Q01118
OpenTargetsiENSG00000136546
PharmGKBiPA35008

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410INF4 Eukaryota
ENOG410Y1Z2 LUCA
GeneTreeiENSGT00940000162042
HOGENOMiHOG000231755
HOVERGENiHBG053100
InParanoidiQ01118
KOiK04839
OMAiYAIFGMY
OrthoDBi56920at2759
PhylomeDBiQ01118
TreeFamiTF323985

Enzyme and pathway databases

ReactomeiR-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-5576892 Phase 0 - rapid depolarisation

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SCN7A human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SCN7A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
6332

Protein Ontology

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PROi
PR:Q01118

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000136546 Expressed in 173 organ(s), highest expression level in lung
ExpressionAtlasiQ01118 baseline and differential
GenevisibleiQ01118 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSCN7A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q01118
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: May 18, 2010
Last modified: February 13, 2019
This is version 178 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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