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MGP002765

UniProt Annotations

Entry Information
Gene Namesodium channel, voltage gated, type X alpha subunit
Protein EntrySCNAA_HUMAN
UniProt IDQ9Y5Y9
SpeciesHuman
Comments
Comment typeDescription
DiseaseEpisodic pain syndrome, familial, 2 (FEPS2) [MIM:615551]: An autosomal dominant neurologic disorder characterized by adult- onset of paroxysmal pain mainly affecting the distal lower extremities. {ECO:0000269|PubMed:23115331}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe 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.
FunctionTetrodotoxin-resistant channel that 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. Plays a role in neuropathic pain mechanisms. {ECO:0000269|PubMed:9839820}.
PtmPhosphorylation at Ser-1451 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents. {ECO:0000250}.
PtmUbiquitinated by NEDD4L; which promotes its endocytosis. {ECO:0000250}.
SimilarityBelongs to the sodium channel (TC 1.A.1.10) family. Nav1.8/SCN10A subfamily. {ECO:0000305}.
SimilarityContains 1 IQ domain. {ECO:0000305}.
Subcellular LocationMembrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=It can be translocated to the extracellular membrane through association with S100A10. {ECO:0000250}.
SubunitThe channel consists of an ion conducting pore forming alpha-subunit regulated by one or more associated auxiliary subunits SCN1B, SCN2B and SCN3B; electrophysiological properties may vary depending on the type of the associated beta subunits. Found in a number of complexes with PRX, DYNLT1 and PDZD2. Interacts with proteins such as FSTL1, PRX, DYNLT1, PDZD2, S100A10 and many others (By similarity). Interacts with NEDD4 and NEDD4L. {ECO:0000250}.
Tissue SpecificityExpressed in the dorsal root ganglia and sciatic nerve. {ECO:0000269|PubMed:9839820}.
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