Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue.
Background References
1. Hebel T. et. al. Lipid abnormalities in alpha/beta2-syntrophin null mice are independent from ABCA1. Biochim Biophys Acta. 2015 May;1851(5):527-36.
2. Williams JC. et. al. The sarcolemmal calcium pump, alpha-1 syntrophin, and neuronal nitric-oxide synthase are parts of a macromolecular protein complex. J Biol Chem. 2006 Aug 18;281(33):23341-8.
Sequence Similarity
Belongs to the syntrophin family.
Tissue Specificity
High expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney and lung. Not detected in placenta.
Post-translational Modification
Phosphorylated by CaM-kinase II. Phosphorylation may inhibit the interaction with DMD (By similarity).
Western blot analysis of Syntrophin alpha 1 on different lysates with Rabbit anti-Syntrophin alpha 1 antibody (ER1901-40) at 1/1,000 dilution.
Lane 1: Mouse skeletal muscle tissue lysate Lane 2: Mouse heart tissue lysate Lane 3: Rat skeletal muscle tissue lysate Lane 4: Rat heart tissue lysate Lane 5: Rat eyeball tissue lysate
Lysates/proteins at 20 µg/Lane.
Predicted band size: 54 kDa Observed band size: 54 kDa
Exposure time: 1 minute 21 seconds; ECL: K1801;
4-20% SDS-PAGE gel.
Proteins were transferred to a PVDF membrane and blocked with 5% NFDM/TBST for 1 hour at room temperature. The primary antibody (ER1901-40) at 1/1,000 dilution was used in 5% NFDM/TBST at 4℃ overnight. Goat Anti-Rabbit IgG - HRP Secondary Antibody (HA1001) at 1/50,000 dilution was used for 1 hour at room temperature.
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