SNTA1

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.

Syntrophin Alpha 1

Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5-bisphosphate (By similarity).

Biological Process muscle contractionManual Assertion Based On ExperimentTAS:ProtInc
Biological Process negative regulation of peptidyl-cysteine S-nitrosylationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process neuromuscular junction developmentIEA:Ensembl
Biological Process regulation of heart rateManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process regulation of sodium ion transmembrane transportManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process regulation of vasoconstriction by circulating norepinephrineIEA:Ensembl
Biological Process regulation of ventricular cardiac muscle cell membrane repolarizationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process ventricular cardiac muscle cell action potentialManual Assertion Based On ExperimentIMP:BHF-UCL

Cell membrane, sarcolemma
Cell junction
Cytoplasm, cytoskeleton
In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions.

Long QT syndrome 12 (LQT12):
A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.

Phosphorylated by CaM-kinase II. Phosphorylation may inhibit the interaction with DMD (By similarity).