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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes FDA approved drug targets Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
q13.11
Chromosome location (bp)
35030470 - 35040449
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Regulatory subunit of multiple voltage-gated sodium channel complexes that play important roles in excitable membranes in brain, heart and skeletal muscle. Enhances the presence of the pore-forming alpha subunit at the cell surface and modulates channel gating characteristics and the rate of channel inactivation. Modulates the activity of multiple pore-forming alpha subunits, such as SCN1A, SCN2A, SCN3A, SCN4A, SCN5A and SCN10A....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Ion channel, Sodium channel, Voltage-gated channel
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell adhesion, Ion transport, Sodium transport, Transport
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Sodium
Gene summary (Entrez)i
Useful information about the gene from Entrez
Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cardiovascular diseases Cardiac diseases Nervous system diseases Epilepsy Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0001518[voltage-gated sodium channel complex] GO:0005244[voltage-gated ion channel activity] GO:0005248[voltage-gated sodium channel activity] GO:0005272[sodium channel activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006814[sodium ion transport] GO:0007155[cell adhesion] GO:0007411[axon guidance] GO:0010765[positive regulation of sodium ion transport] GO:0010976[positive regulation of neuron projection development] GO:0014704[intercalated disc] GO:0016020[membrane] GO:0017080[sodium channel regulator activity] GO:0019227[neuronal action potential propagation] GO:0019871[sodium channel inhibitor activity] GO:0021966[corticospinal neuron axon guidance] GO:0030315[T-tubule] GO:0030424[axon] GO:0033268[node of Ranvier] GO:0034765[regulation of ion transmembrane transport] GO:0035725[sodium ion transmembrane transport] GO:0040011[locomotion] GO:0042995[cell projection] GO:0043204[perikaryon] GO:0044325[transmembrane transporter binding] GO:0051899[membrane depolarization] GO:0060048[cardiac muscle contraction] GO:0060307[regulation of ventricular cardiac muscle cell membrane repolarization] GO:0060371[regulation of atrial cardiac muscle cell membrane depolarization] GO:0061337[cardiac conduction] GO:0086002[cardiac muscle cell action potential involved in contraction] GO:0086006[voltage-gated sodium channel activity involved in cardiac muscle cell action potential] GO:0086012[membrane depolarization during cardiac muscle cell action potential] GO:0086047[membrane depolarization during Purkinje myocyte cell action potential] GO:0086062[voltage-gated sodium channel activity involved in Purkinje myocyte action potential] GO:0086091[regulation of heart rate by cardiac conduction] GO:2000649[regulation of sodium ion transmembrane transporter activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Cardiac diseases Nervous system diseases Epilepsy
The Human Protein Atlas project is funded
