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Entry version 149 (08 May 2019)
Sequence version 2 (23 Jan 2007)
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Protein

Sodium channel protein type 11 subunit alpha

Gene

SCN11A

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

This protein 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 sodium ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronal depolarization.2 Publications

<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

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9UI33

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.1.10.9 the voltage-gated ion channel (vic) superfamily

<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 11 subunit alpha
Alternative name(s):
Peripheral nerve sodium channel 5
Short name:
PN5
Sensory neuron sodium channel 2
Sodium channel protein type XI subunit alpha
Voltage-gated sodium channel subunit alpha Nav1.9
hNaN
<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:SCN11A
Synonyms:SCN12A, SNS2
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10583 SCN11A

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604385 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UI33

<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 & Seán O’Donoghue; 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 – 126CytoplasmicCuratedAdd BLAST126
<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>Transmembranei127 – 148Helical; Name=S1 of repeat IBy similarityAdd BLAST22
Topological domaini149 – 156ExtracellularCurated8
Transmembranei157 – 180Helical; Name=S2 of repeat IBy similarityAdd BLAST24
Topological domaini181 – 192CytoplasmicCuratedAdd BLAST12
Transmembranei193 – 212Helical; Name=S3 of repeat IBy similarityAdd BLAST20
Topological domaini213 – 219ExtracellularCurated7
Transmembranei220 – 239Helical; Voltage-sensor; Name=S4 of repeat IBy similarityAdd BLAST20
Topological domaini240 – 255CytoplasmicCuratedAdd BLAST16
Transmembranei256 – 269Helical; Name=S5 of repeat IBy similarityAdd BLAST14
Topological domaini270 – 344ExtracellularCuratedAdd BLAST75
<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>Intramembranei345 – 369Pore-formingBy similarityAdd BLAST25
Topological domaini370 – 376ExtracellularCurated7
Transmembranei377 – 402Helical; Name=S6 of repeat IBy similarityAdd BLAST26
Topological domaini403 – 572CytoplasmicCuratedAdd BLAST170
Transmembranei573 – 596Helical; Name=S1 of repeat IIBy similarityAdd BLAST24
Topological domaini597 – 607ExtracellularCuratedAdd BLAST11
Transmembranei608 – 631Helical; Name=S2 of repeat IIBy similarityAdd BLAST24
Topological domaini632 – 639CytoplasmicCurated8
Transmembranei640 – 659Helical; Name=S3 of repeat IIBy similarityAdd BLAST20
Topological domaini660 – 667ExtracellularCurated8
Transmembranei668 – 687Helical; Voltage-sensor; Name=S4 of repeat IIBy similarityAdd BLAST20
Topological domaini688 – 702CytoplasmicCuratedAdd BLAST15
Transmembranei703 – 725Helical; Name=S5 of repeat IIBy similarityAdd BLAST23
Topological domaini726 – 753ExtracellularCuratedAdd BLAST28
Intramembranei754 – 774Pore-formingBy similarityAdd BLAST21
Topological domaini775 – 785ExtracellularCuratedAdd BLAST11
Transmembranei786 – 811Helical; Name=S6 of repeat IIBy similarityAdd BLAST26
Topological domaini812 – 1051CytoplasmicCuratedAdd BLAST240
Transmembranei1052 – 1074Helical; Name=S1 of repeat IIIBy similarityAdd BLAST23
Topological domaini1075 – 1088ExtracellularCuratedAdd BLAST14
Transmembranei1089 – 1114Helical; Name=S2 of repeat IIIBy similarityAdd BLAST26
Topological domaini1115 – 1120CytoplasmicCurated6
Transmembranei1121 – 1138Helical; Name=S3 of repeat IIIBy similarityAdd BLAST18
Topological domaini1139ExtracellularCurated1
Transmembranei1140 – 1161Helical; Voltage-sensor; Name=S4 of repeat IIIBy similarityAdd BLAST22
Topological domaini1162 – 1180CytoplasmicCuratedAdd BLAST19
Transmembranei1181 – 1202Helical; Name=S5 of repeat IIIBy similarityAdd BLAST22
Topological domaini1203 – 1243ExtracellularCuratedAdd BLAST41
Intramembranei1244 – 1265Pore-formingBy similarityAdd BLAST22
Topological domaini1266 – 1281ExtracellularCuratedAdd BLAST16
Transmembranei1282 – 1308Helical; Name=S6 of repeat IIIBy similarityAdd BLAST27
Topological domaini1309 – 1361CytoplasmicCuratedAdd BLAST53
Transmembranei1362 – 1385Helical; Name=S1 of repeat IVBy similarityAdd BLAST24
Topological domaini1386 – 1396ExtracellularCuratedAdd BLAST11
Transmembranei1397 – 1420Helical; Name=S2 of repeat IVBy similarityAdd BLAST24
Topological domaini1421 – 1426CytoplasmicCurated6
Transmembranei1427 – 1450Helical; Name=S3 of repeat IVBy similarityAdd BLAST24
Topological domaini1451 – 1461ExtracellularCuratedAdd BLAST11
Transmembranei1462 – 1484Helical; Voltage-sensor; Name=S4 of repeat IVBy similarityAdd BLAST23
Topological domaini1485 – 1499CytoplasmicCuratedAdd BLAST15
Transmembranei1500 – 1522Helical; Name=S5 of repeat IVBy similarityAdd BLAST23
Topological domaini1523 – 1536ExtracellularCuratedAdd BLAST14
Intramembranei1537 – 1559Pore-formingBy similarityAdd BLAST23
Topological domaini1560 – 1579ExtracellularCuratedAdd BLAST20
Transmembranei1580 – 1604Helical; Name=S6 of repeat IVBy similarityAdd BLAST25
Topological domaini1605 – 1791CytoplasmicCuratedAdd 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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Neuropathy, hereditary sensory and autonomic, 7 (HSAN7)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN7 is characterized by congenital inability to experience pain resulting in self-mutilations, slow-healing wounds, and multiple painless fractures. mild muscle weakness, delayed motor development, slightly reduced motor and sensory nerve conduction velocities, hyperhidrosis and gastrointestinal dysfunction.
See also OMIM:615548
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_070921811L → P in HSAN7; results in excessive channel activity at resting voltages; causes sustained depolarization of nociceptors and impaired generation of action potentials; causes aberrant synaptic transmission; causes transient hyperexcitability of dorsal root ganglion neurons. 2 PublicationsCorresponds to variant dbSNP:rs483352920EnsemblClinVar.1
Natural variantiVAR_0752501184V → A in HSAN7; cold-aggravated peripheral pain seen in some patients; enhances the channel activity by shifting the voltage dependence of channel opening to hyperpolarized potentials thereby giving rise to hyperexcitability of nociceptors; causes hyperexcitability and reduced cold-sensitivity of dorsal root ganglion neurons. 1 Publication1
Episodic pain syndrome, familial, 3 (FEPS3)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurologic disorder characterized by paroxysmal pain mainly affecting the distal lower extremities and occasionally the upper body, especially the joints of fingers and arms. The pain is exacerbated with fatigue.
See also OMIM:615552
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076679222R → H in FEPS3. 1 PublicationCorresponds to variant dbSNP:rs1230622899Ensembl.1
Natural variantiVAR_076680222R → S in FEPS3. 1 Publication1
Natural variantiVAR_070919225R → C in FEPS3. 1 PublicationCorresponds to variant dbSNP:rs138607170EnsemblClinVar.1
Natural variantiVAR_076682381I → T in FEPS3; causes hyperexcitability of dorsal root ganglion neurons; depolarizes resting membrane potential; enhances spontaneous firing; hyperpolarizes channel activation; slows deactivation; decreases rates of current decay; does not change slow-inactivation. 1 PublicationCorresponds to variant dbSNP:rs606231280EnsemblClinVar.1
Natural variantiVAR_076686699G → R in FEPS3; causes hyperexcitability of dorsal root ganglion neurons; hyperpolarizes channel activation; slows deactivation; depolarizes steady-state fast-inactivation. 1 PublicationCorresponds to variant dbSNP:rs145734191Ensembl.1
Natural variantiVAR_070920808A → G in FEPS3. 1 PublicationCorresponds to variant dbSNP:rs483352921EnsemblClinVar.1
Natural variantiVAR_0766881158L → P in FEPS3; slows deactivation; depolarizes resting membrane potential; enhances spontaneous firing; decreases rates of current decay; does not change fast-inactivation; does not change slow-inactivation. 1 PublicationCorresponds to variant dbSNP:rs141686175EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
11280

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
SCN11A

MalaCards human disease database

More...
MalaCardsi
SCN11A
MIMi615548 phenotype
615552 phenotype

Open Targets

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OpenTargetsi
ENSG00000168356

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
88642 Channelopathy-associated congenital insensitivity to pain
391392 Familial episodic pain syndrome with predominantly lower limb involvement
391397 Hereditary sensory and autonomic neuropathy type 7
46348 Paroxysmal extreme pain disorder
90026 Primary erythromelalgia
306577 Sodium channelopathy-related small fiber neuropathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA35001

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL5167

Drug and drug target database

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DrugBanki
DB00907 Cocaine
DB00313 Valproic Acid
DB00909 Zonisamide

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
SCN11A

Domain mapping of disease mutations (DMDM)

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DMDMi
124053649

<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_00000485101 – 1791Sodium channel protein type 11 subunit alphaAdd BLAST1791

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 bondi283 ↔ 322By 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>Glycosylationi290N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi338N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi776 ↔ 787By similarity
Glycosylationi781N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1209N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1216N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1222N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1230N-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 residuei1341Phosphoserine; by PKCBy similarity1
Glycosylationi1568N-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

Phosphorylation at Ser-1341 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

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

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PaxDbi
Q9UI33

PeptideAtlas

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PeptideAtlasi
Q9UI33

PRoteomics IDEntifications database

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PRIDEi
Q9UI33

ProteomicsDB human proteome resource

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ProteomicsDBi
84461
84462 [Q9UI33-2]
84463 [Q9UI33-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9UI33

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

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PhosphoSitePlusi
Q9UI33

<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

Expressed in the dorsal root ganglia and trigeminal ganglia, olfactory bulb, hippocampus, cerebellar cortex, spinal cord, spleen, small intestine and placenta.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000168356 Expressed in 70 organ(s), highest expression level in dorsal root ganglion

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UI33 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA036746
HPA036747

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

The voltage-resistant sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more auxiliary subunits SCN1B, SCN2B and SCN3B.

Protein-protein interaction databases

Protein interaction database and analysis system

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IntActi
Q9UI33, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000307599

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q9UI33

<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>Repeati115 – 408ICuratedAdd BLAST294
Repeati559 – 833IICuratedAdd BLAST275
Repeati1044 – 1339IIICuratedAdd BLAST296
Repeati1348 – 1639IVCuratedAdd BLAST292

<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
KOG2301 Eukaryota
ENOG410XNP6 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000161553

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UI33

KEGG Orthology (KO)

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KOi
K04843

Identification of Orthologs from Complete Genome Data

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OMAi
CAAVIQK

Database of Orthologous Groups

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OrthoDBi
172471at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UI33

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
IPR028821 Na_channel_a11su
IPR001696 Na_channel_asu
IPR010526 Na_trans_assoc
IPR027359 Volt_channel_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR10037:SF210 PTHR10037:SF210, 1 hit

Pfam protein domain database

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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>Sequences (3)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 describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9UI33-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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MDDRCYPVIF PDERNFRPFT SDSLAAIEKR IAIQKEKKKS KDQTGEVPQP
60 70 80 90 100
RPQLDLKASR KLPKLYGDIP RELIGKPLED LDPFYRNHKT FMVLNRKRTI
110 120 130 140 150
YRFSAKHALF IFGPFNSIRS LAIRVSVHSL FSMFIIGTVI INCVFMATGP
160 170 180 190 200
AKNSNSNNTD IAECVFTGIY IFEALIKILA RGFILDEFSF LRDPWNWLDS
210 220 230 240 250
IVIGIAIVSY IPGITIKLLP LRTFRVFRAL KAISVVSRLK VIVGALLRSV
260 270 280 290 300
KKLVNVIILT FFCLSIFALV GQQLFMGSLN LKCISRDCKN ISNPEAYDHC
310 320 330 340 350
FEKKENSPEF KMCGIWMGNS ACSIQYECKH TKINPDYNYT NFDNFGWSFL
360 370 380 390 400
AMFRLMTQDS WEKLYQQTLR TTGLYSVFFF IVVIFLGSFY LINLTLAVVT
410 420 430 440 450
MAYEEQNKNV AAEIEAKEKM FQEAQQLLKE EKEALVAMGI DRSSLTSLET
460 470 480 490 500
SYFTPKKRKL FGNKKRKSFF LRESGKDQPP GSDSDEDCQK KPQLLEQTKR
510 520 530 540 550
LSQNLSLDHF DEHGDPLQRQ RALSAVSILT ITMKEQEKSQ EPCLPCGENL
560 570 580 590 600
ASKYLVWNCC PQWLCVKKVL RTVMTDPFTE LAITICIIIN TVFLAMEHHK
610 620 630 640 650
MEASFEKMLN IGNLVFTSIF IAEMCLKIIA LDPYHYFRRG WNIFDSIVAL
660 670 680 690 700
LSFADVMNCV LQKRSWPFLR SFRVLRVFKL AKSWPTLNTL IKIIGNSVGA
710 720 730 740 750
LGSLTVVLVI VIFIFSVVGM QLFGRSFNSQ KSPKLCNPTG PTVSCLRHWH
760 770 780 790 800
MGDFWHSFLV VFRILCGEWI ENMWECMQEA NASSSLCVIV FILITVIGKL
810 820 830 840 850
VVLNLFIALL LNSFSNEERN GNLEGEARKT KVQLALDRFR RAFCFVRHTL
860 870 880 890 900
EHFCHKWCRK QNLPQQKEVA GGCAAQSKDI IPLVMEMKRG SETQEELGIL
910 920 930 940 950
TSVPKTLGVR HDWTWLAPLA EEEDDVEFSG EDNAQRITQP EPEQQAYELH
960 970 980 990 1000
QENKKPTSQR VQSVEIDMFS EDEPHLTIQD PRKKSDVTSI LSECSTIDLQ
1010 1020 1030 1040 1050
DGFGWLPEMV PKKQPERCLP KGFGCCFPCC SVDKRKPPWV IWWNLRKTCY
1060 1070 1080 1090 1100
QIVKHSWFES FIIFVILLSS GALIFEDVHL ENQPKIQELL NCTDIIFTHI
1110 1120 1130 1140 1150
FILEMVLKWV AFGFGKYFTS AWCCLDFIIV IVSVTTLINL MELKSFRTLR
1160 1170 1180 1190 1200
ALRPLRALSQ FEGMKVVVNA LIGAIPAILN VLLVCLIFWL VFCILGVYFF
1210 1220 1230 1240 1250
SGKFGKCING TDSVINYTII TNKSQCESGN FSWINQKVNF DNVGNAYLAL
1260 1270 1280 1290 1300
LQVATFKGWM DIIYAAVDST EKEQQPEFES NSLGYIYFVV FIIFGSFFTL
1310 1320 1330 1340 1350
NLFIGVIIDN FNQQQKKLGG QDIFMTEEQK KYYNAMKKLG SKKPQKPIPR
1360 1370 1380 1390 1400
PLNKCQGLVF DIVTSQIFDI IIISLIILNM ISMMAESYNQ PKAMKSILDH
1410 1420 1430 1440 1450
LNWVFVVIFT LECLIKIFAL RQYYFTNGWN LFDCVVVLLS IVSTMISTLE
1460 1470 1480 1490 1500
NQEHIPFPPT LFRIVRLARI GRILRLVRAA RGIRTLLFAL MMSLPSLFNI
1510 1520 1530 1540 1550
GLLLFLIMFI YAILGMNWFS KVNPESGIDD IFNFKTFASS MLCLFQISTS
1560 1570 1580 1590 1600
AGWDSLLSPM LRSKESCNSS SENCHLPGIA TSYFVSYIII SFLIVVNMYI
1610 1620 1630 1640 1650
AVILENFNTA TEESEDPLGE DDFDIFYEVW EKFDPEATQF IKYSALSDFA
1660 1670 1680 1690 1700
DALPEPLRVA KPNKYQFLVM DLPMVSEDRL HCMDILFAFT ARVLGGSDGL
1710 1720 1730 1740 1750
DSMKAMMEEK FMEANPLKKL YEPIVTTTKR KEEERGAAII QKAFRKYMMK
1760 1770 1780 1790
VTKGDQGDQN DLENGPHSPL QTLCNGDLSS FGVAKGKVHC D
Length:1,791
Mass (Da):204,922
Last modified:January 23, 2007 - 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:iDE38680BFB639ED1
GO
Isoform 2 (identifier: Q9UI33-2) [UniParc]FASTAAdd to basket
Also known as: Scn12a-s

The sequence of this isoform differs from the canonical sequence as follows:
     1444-1444: T → K
     1445-1791: Missing.

Show »
Length:1,444
Mass (Da):165,712
Checksum:iAF30D44FC4116459
GO
Isoform 3 (identifier: Q9UI33-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     946-983: Missing.

Note: No experimental confirmation available.
Show »
Length:1,753
Mass (Da):200,415
Checksum:i72559E3CD95192B0
GO

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 conflicti576D → G in CAD10507 (PubMed:12384689).Curated1
Sequence conflicti703S → N in AAF24976 (PubMed:10623608).Curated1
Sequence conflicti703S → N in AAF24980 (PubMed:10623608).Curated1
Sequence conflicti847R → G in CAD10507 (PubMed:12384689).Curated1
Sequence conflicti1086I → T in AAT95434 (PubMed:15302875).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076679222R → H in FEPS3. 1 PublicationCorresponds to variant dbSNP:rs1230622899Ensembl.1
Natural variantiVAR_076680222R → S in FEPS3. 1 Publication1
Natural variantiVAR_070919225R → C in FEPS3. 1 PublicationCorresponds to variant dbSNP:rs138607170EnsemblClinVar.1
Natural variantiVAR_076681308P → L1 PublicationCorresponds to variant dbSNP:rs751477540Ensembl.1
Natural variantiVAR_076682381I → T in FEPS3; causes hyperexcitability of dorsal root ganglion neurons; depolarizes resting membrane potential; enhances spontaneous firing; hyperpolarizes channel activation; slows deactivation; decreases rates of current decay; does not change slow-inactivation. 1 PublicationCorresponds to variant dbSNP:rs606231280EnsemblClinVar.1
Natural variantiVAR_076683419K → N1 PublicationCorresponds to variant dbSNP:rs150269814Ensembl.1
Natural variantiVAR_030002481G → E. Corresponds to variant dbSNP:rs13059805EnsemblClinVar.1
Natural variantiVAR_076684582A → T1 PublicationCorresponds to variant dbSNP:rs141228634EnsemblClinVar.1
Natural variantiVAR_076685681A → D1 Publication1
Natural variantiVAR_076686699G → R in FEPS3; causes hyperexcitability of dorsal root ganglion neurons; hyperpolarizes channel activation; slows deactivation; depolarizes steady-state fast-inactivation. 1 PublicationCorresponds to variant dbSNP:rs145734191Ensembl.1
Natural variantiVAR_030003777M → R. Corresponds to variant dbSNP:rs4302324Ensembl.1
Natural variantiVAR_070920808A → G in FEPS3. 1 PublicationCorresponds to variant dbSNP:rs483352921EnsemblClinVar.1
Natural variantiVAR_070921811L → P in HSAN7; results in excessive channel activity at resting voltages; causes sustained depolarization of nociceptors and impaired generation of action potentials; causes aberrant synaptic transmission; causes transient hyperexcitability of dorsal root ganglion neurons. 2 PublicationsCorresponds to variant dbSNP:rs483352920EnsemblClinVar.1
Natural variantiVAR_076687842A → P1 PublicationCorresponds to variant dbSNP:rs1373209779Ensembl.1
Natural variantiVAR_048697909V → I1 PublicationCorresponds to variant dbSNP:rs33985936EnsemblClinVar.1
Natural variantiVAR_0766881158L → P in FEPS3; slows deactivation; depolarizes resting membrane potential; enhances spontaneous firing; decreases rates of current decay; does not change fast-inactivation; does not change slow-inactivation. 1 PublicationCorresponds to variant dbSNP:rs141686175EnsemblClinVar.1
Natural variantiVAR_0752501184V → A in HSAN7; cold-aggravated peripheral pain seen in some patients; enhances the channel activity by shifting the voltage dependence of channel opening to hyperpolarized potentials thereby giving rise to hyperexcitability of nociceptors; causes hyperexcitability and reduced cold-sensitivity of dorsal root ganglion neurons. 1 Publication1
Natural variantiVAR_0300041198Y → H. Corresponds to variant dbSNP:rs12638601Ensembl.1
Natural variantiVAR_0766891609T → I1 PublicationCorresponds to variant dbSNP:rs72869687EnsemblClinVar.1
Natural variantiVAR_0766901689F → L1 PublicationCorresponds to variant dbSNP:rs201107889EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_012259946 – 983Missing in isoform 3. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_0122601444T → K in isoform 2. 1 Publication1
Alternative sequenceiVSP_0122611445 – 1791Missing in isoform 2. 1 PublicationAdd BLAST347

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF188679 mRNA Translation: AAF17480.1
AF109737 mRNA Translation: AAF24976.1
AF150882 mRNA Translation: AAF24980.1
AJ417790 mRNA Translation: CAD10507.1
AC116038 Genomic DNA No translation available.
AY686224 mRNA Translation: AAT95434.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33737.1 [Q9UI33-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001274152.1, NM_001287223.1
NP_054858.2, NM_014139.2 [Q9UI33-1]
XP_016861138.1, XM_017005649.1
XP_016861139.1, XM_017005650.1 [Q9UI33-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000302328; ENSP00000307599; ENSG00000168356 [Q9UI33-1]
ENST00000444237; ENSP00000408028; ENSG00000168356 [Q9UI33-2]
ENST00000456224; ENSP00000416757; ENSG00000168356 [Q9UI33-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
11280

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:11280

UCSC genome browser

More...
UCSCi
uc003cis.2 human [Q9UI33-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AF188679 mRNA Translation: AAF17480.1
AF109737 mRNA Translation: AAF24976.1
AF150882 mRNA Translation: AAF24980.1
AJ417790 mRNA Translation: CAD10507.1
AC116038 Genomic DNA No translation available.
AY686224 mRNA Translation: AAT95434.1
CCDSiCCDS33737.1 [Q9UI33-1]
RefSeqiNP_001274152.1, NM_001287223.1
NP_054858.2, NM_014139.2 [Q9UI33-1]
XP_016861138.1, XM_017005649.1
XP_016861139.1, XM_017005650.1 [Q9UI33-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

IntActiQ9UI33, 2 interactors
STRINGi9606.ENSP00000307599

Chemistry databases

BindingDBiQ9UI33
ChEMBLiCHEMBL5167
DrugBankiDB00907 Cocaine
DB00313 Valproic Acid
DB00909 Zonisamide

Protein family/group databases

TCDBi1.A.1.10.9 the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetiQ9UI33
PhosphoSitePlusiQ9UI33

Polymorphism and mutation databases

BioMutaiSCN11A
DMDMi124053649

Proteomic databases

PaxDbiQ9UI33
PeptideAtlasiQ9UI33
PRIDEiQ9UI33
ProteomicsDBi84461
84462 [Q9UI33-2]
84463 [Q9UI33-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302328; ENSP00000307599; ENSG00000168356 [Q9UI33-1]
ENST00000444237; ENSP00000408028; ENSG00000168356 [Q9UI33-2]
ENST00000456224; ENSP00000416757; ENSG00000168356 [Q9UI33-3]
GeneIDi11280
KEGGihsa:11280
UCSCiuc003cis.2 human [Q9UI33-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
11280
DisGeNETi11280

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SCN11A
GeneReviewsiSCN11A
HGNCiHGNC:10583 SCN11A
HPAiHPA036746
HPA036747
MalaCardsiSCN11A
MIMi604385 gene
615548 phenotype
615552 phenotype
neXtProtiNX_Q9UI33
OpenTargetsiENSG00000168356
Orphaneti88642 Channelopathy-associated congenital insensitivity to pain
391392 Familial episodic pain syndrome with predominantly lower limb involvement
391397 Hereditary sensory and autonomic neuropathy type 7
46348 Paroxysmal extreme pain disorder
90026 Primary erythromelalgia
306577 Sodium channelopathy-related small fiber neuropathy
PharmGKBiPA35001

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2301 Eukaryota
ENOG410XNP6 LUCA
GeneTreeiENSGT00940000161553
InParanoidiQ9UI33
KOiK04843
OMAiCAAVIQK
OrthoDBi172471at2759
PhylomeDBiQ9UI33
TreeFamiTF323985

Enzyme and pathway databases

ReactomeiR-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-5576892 Phase 0 - rapid depolarisation
SIGNORiQ9UI33

Miscellaneous databases

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

More...
ChiTaRSi
SCN11A human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Nav1.9

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

More...
GenomeRNAii
11280

Protein Ontology

More...
PROi
PR:Q9UI33

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000168356 Expressed in 70 organ(s), highest expression level in dorsal root ganglion
GenevisibleiQ9UI33 HS

Family and domain databases

Gene3Di1.20.120.350, 4 hits
InterProiView protein in InterPro
IPR005821 Ion_trans_dom
IPR028821 Na_channel_a11su
IPR001696 Na_channel_asu
IPR010526 Na_trans_assoc
IPR027359 Volt_channel_dom_sf
PANTHERiPTHR10037:SF210 PTHR10037:SF210, 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 nameiSCNBA_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: Q9UI33
Secondary accession number(s): A6NN05
, C9JD48, C9JR31, Q68K15, Q8NDX3, Q9UHE0, Q9UHM0
<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: December 21, 2004
Last sequence update: January 23, 2007
Last modified: May 8, 2019
This is version 149 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 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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