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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 Transporters Voltage-gated ion channels
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
2
Cytoband
q24.3
Chromosome location (bp)
165984641 - 166149214
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 1. Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain: activation in somatosensory neurons induces pain without neurogenic inflammation and produces hypersensitivity to mechanical, but not thermal stimuli....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.
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-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]...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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P35498 [Direct mapping] Sodium channel protein type 1 subunit alpha
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Transporters Transporter channels and pores Voltage-gated ion channels Voltage-Gated Sodium Channels Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Epilepsy Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) DeepTMHMM predicted membrane proteins
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GO:0001518[voltage-gated sodium channel complex] GO:0005216[ion channel activity] GO:0005244[voltage-gated ion channel activity] GO:0005248[voltage-gated sodium channel activity] GO:0005261[cation channel activity] GO:0005272[sodium channel activity] GO:0005654[nucleoplasm] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006814[sodium ion transport] GO:0016020[membrane] GO:0016604[nuclear body] GO:0019228[neuronal action potential] GO:0030018[Z disc] GO:0030424[axon] GO:0034765[regulation of ion transmembrane transport] GO:0035725[sodium ion transmembrane transport] GO:0050966[detection of mechanical stimulus involved in sensory perception of pain] GO:0055085[transmembrane transport] GO:0086002[cardiac muscle cell action potential involved in contraction] GO:0086010[membrane depolarization during action potential] GO:0099505[regulation of presynaptic membrane potential] GO:0099508[voltage-gated ion channel activity involved in regulation of presynaptic membrane potential]
P35498 [Direct mapping] Sodium channel protein type 1 subunit alpha
Show all
Transporters Transporter channels and pores Voltage-gated ion channels Voltage-Gated Sodium Channels Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Epilepsy Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0001518[voltage-gated sodium channel complex] GO:0005216[ion channel activity] GO:0005244[voltage-gated ion channel activity] GO:0005248[voltage-gated sodium channel activity] GO:0005261[cation channel activity] GO:0005272[sodium channel activity] GO:0005654[nucleoplasm] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006814[sodium ion transport] GO:0016020[membrane] GO:0016604[nuclear body] GO:0019228[neuronal action potential] GO:0030018[Z disc] GO:0030424[axon] GO:0034765[regulation of ion transmembrane transport] GO:0035725[sodium ion transmembrane transport] GO:0050966[detection of mechanical stimulus involved in sensory perception of pain] GO:0055085[transmembrane transport] GO:0086002[cardiac muscle cell action potential involved in contraction] GO:0086010[membrane depolarization during action potential] GO:0099505[regulation of presynaptic membrane potential] GO:0099508[voltage-gated ion channel activity involved in regulation of presynaptic membrane potential]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Epilepsy Other nervous and sensory system diseases
P35498 [Direct mapping] Sodium channel protein type 1 subunit alpha
Show all
Transporters Transporter channels and pores Voltage-gated ion channels Voltage-Gated Sodium Channels Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Epilepsy Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0001518[voltage-gated sodium channel complex] GO:0005216[ion channel activity] GO:0005244[voltage-gated ion channel activity] GO:0005248[voltage-gated sodium channel activity] GO:0005261[cation channel activity] GO:0005272[sodium channel activity] GO:0005654[nucleoplasm] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006814[sodium ion transport] GO:0016020[membrane] GO:0016604[nuclear body] GO:0019228[neuronal action potential] GO:0030018[Z disc] GO:0030424[axon] GO:0034765[regulation of ion transmembrane transport] GO:0035725[sodium ion transmembrane transport] GO:0050966[detection of mechanical stimulus involved in sensory perception of pain] GO:0055085[transmembrane transport] GO:0086002[cardiac muscle cell action potential involved in contraction] GO:0086010[membrane depolarization during action potential] GO:0099505[regulation of presynaptic membrane potential] GO:0099508[voltage-gated ion channel activity involved in regulation of presynaptic membrane potential]
P35498 [Direct mapping] Sodium channel protein type 1 subunit alpha
Show all
Transporters Transporter channels and pores Voltage-gated ion channels Voltage-Gated Sodium Channels Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Epilepsy Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0001518[voltage-gated sodium channel complex] GO:0005216[ion channel activity] GO:0005244[voltage-gated ion channel activity] GO:0005248[voltage-gated sodium channel activity] GO:0005261[cation channel activity] GO:0005272[sodium channel activity] GO:0005654[nucleoplasm] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0006814[sodium ion transport] GO:0007628[adult walking behavior] GO:0014704[intercalated disc] GO:0016020[membrane] GO:0016604[nuclear body] GO:0019227[neuronal action potential propagation] GO:0019228[neuronal action potential] GO:0030018[Z disc] GO:0030315[T-tubule] GO:0030424[axon] GO:0033268[node of Ranvier] GO:0034706[sodium channel complex] GO:0034765[regulation of ion transmembrane transport] GO:0035725[sodium ion transmembrane transport] GO:0042391[regulation of membrane potential] GO:0043025[neuronal cell body] GO:0043194[axon initial segment] GO:0050884[neuromuscular process controlling posture] GO:0050966[detection of mechanical stimulus involved in sensory perception of pain] GO:0051649[establishment of localization in cell] GO:0055085[transmembrane transport] GO:0086002[cardiac muscle cell action potential involved in contraction] GO:0086010[membrane depolarization during action potential] GO:0099505[regulation of presynaptic membrane potential] GO:0099508[voltage-gated ion channel activity involved in regulation of presynaptic membrane potential]
The Human Protein Atlas project is funded
