SNTA1
Domain
The PH 1 domain mediates the oligomerization in a calcium dependent manner, and the association with the phosphatidylinositol 4,5-bisphosphate.
The PDZ domain binds to the last three or four amino acids of ion channels and receptor proteins. The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to the membrane (By similarity).
The SU domain binds calmodulin in a calcium-dependent manner.
Function
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).
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by CaM-kinase II. Phosphorylation may inhibit the interaction with DMD (By similarity).
Sequence Similarities
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.
Cellular localization
- Cell membrane
- Sarcolemma
- Peripheral membrane protein
- Cytoplasmic side
- Cell junction
- Cytoplasm
- Cytoskeleton
- In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions.
Alternative names
SNT1, SNTA1, Alpha-1-syntrophin, 59 kDa dystrophin-associated protein A1 acidic component 1, Pro-TGF-alpha cytoplasmic domain-interacting protein 1, Syntrophin-1, TACIP1