Description: Homo sapiens sodium channel, voltage-gated, type IV, beta subunit (SCN4B), transcript variant 3, mRNA. RefSeq Summary (NM_001142349): The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]. Transcript (Including UTRs) Position: hg19 chr11:118,004,092-118,016,184 Size: 12,093 Total Exon Count: 4 Strand: - Coding Region Position: hg19 chr11:118,007,742-118,014,680 Size: 6,939 Coding Exon Count: 3
ID:SCN4B_HUMAN DESCRIPTION: RecName: Full=Sodium channel subunit beta-4; Flags: Precursor; FUNCTION: Modulates channel gating kinetics. Causes negative shifts in the voltage dependence of activation of certain alpha sodium channels, but does not affect the voltage dependence of inactivation (By similarity). SUBUNIT: The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more beta-1, beta-2, beta-3 and/or beta-4 subunits. Beta-1 and beta-3 are non-covalently associated with alpha, while beta-2 and beta-4 are covalently linked by disulfide bonds. Associates with SCN2A (By similarity). SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Probable). TISSUE SPECIFICITY: Expressed at a high level in dorsal root ganglia, at a lower level in brain, spinal cord, skeletal muscle and heart. PTM: Contains a number of interchain disulfide bonds with SCN2A (By similarity). DISEASE: Defects in SCN4B are the cause of long QT syndrome type 10 (LQT10) [MIM:611819]. Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to excercise or emotional stress. They can present with a sentinel event of sudden cardiac death in infancy. SIMILARITY: Belongs to the sodium channel auxiliary subunit SCN4B (TC 8.A.17) family. SIMILARITY: Contains 1 Ig-like C2-type (immunoglobulin-like) domain. SEQUENCE CAUTION: Sequence=AAH35017.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8IWT1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006811 ion transport GO:0006814 sodium ion transport GO:0010765 positive regulation of sodium ion transport GO:0034765 regulation of ion transmembrane transport GO:0035725 sodium ion transmembrane transport GO:0060048 cardiac muscle contraction GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization GO:0086002 cardiac muscle cell action potential involved in contraction GO:0086012 membrane depolarization during cardiac muscle cell action potential GO:0086016 AV node cell action potential GO:0086091 regulation of heart rate by cardiac conduction GO:2000649 regulation of sodium ion transmembrane transporter activity