Recombinant Human Sodium channel protein type 5 subunit alpha (SCN5A), Truncated

Uniprot Id

Q14524

Target Species

Human

Target Name

SCN5A

Target Full Name

Sodium channel protein type 5 subunit alpha

Target Function

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 Na(+) ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant Na(+) channel isoform. This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels.

Target Involvement

Progressive familial heart block 1A (PFHB1A); Long QT syndrome 3 (LQT3); Brugada syndrome 1 (BRGDA1); Sick sinus syndrome 1 (SSS1); Familial paroxysmal ventricular fibrillation 1 (VF1); Sudden infant death syndrome (SIDS); Atrial standstill 1 (ATRST1); Cardiomyopathy, dilated 1E (CMD1E); Atrial fibrillation, familial, 10 (ATFB10)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein. Cytoplasm, perinuclear region. Cell membrane, sarcolemma, T-tubule.

Target Protein Families

Sodium channel (TC 1.A.1.10) family, Nav1.5/SCN5A subfamily

Target Tissue Specificity

Found in jejunal circular smooth muscle cells (at protein level). Expressed in human atrial and ventricular cardiac muscle but not in adult skeletal muscle, brain, myometrium, liver, or spleen. Isoform 4 is expressed in brain.

Target Synonyms

Cardiac tetrodotoxin insensitive voltage dependent sodium channel alpha subunit; CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1; ICCD; IVF; LQT3; PFHB1; Scn5a (gene name); Scn5a; SCN5A_HUMAN; Sodium channel protein cardiac muscle alpha subunit; Sodium channel protein cardiac muscle subunit alpha; Sodium channel protein type 5 subunit alpha; Sodium channel protein type V alpha subunit; Sodium channel protein type V subunit alpha; SSS1; VF1; Voltage gated sodium channel alpha subunit Nav1.5; Voltage-gated sodium channel subunit alpha Nav1.5

Target Background

The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene have been associated with long QT syndrome type 3 (LQT3), atrial fibrillation, cardiomyopathy, and Brugada syndrome 1, all autosomal dominant cardiac diseases. Alternative splicing results in several transcript variants encoding different isoforms.