Syntrophin, alpha 1

SNTA1
Identifiers
Aliases	SNTA1, LQT12, SNT1, TACIP1, dJ1187J4.5, Syntrophin, alpha 1, syntrophin alpha 1
External IDs	OMIM: 601017; MGI: 101772; GeneCards: SNTA1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1QAV, 1Z86, 1Z87, 2ADZ, 2PDZ, 4HOP
Gene location (Human)
Chr.	Chromosome 20 (human)
End	33,443,763 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	154,250,019 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; muscle of thigh; ; gastrocnemius muscle; ; right auricle of heart; ; left ventricle; ; putamen; ; caudate nucleus; ; nucleus accumbens; ; amygdala; ; right lobe of thyroid gland;
	Top expressed in
	muscle of thigh; ; extensor digitorum longus muscle; ; triceps brachii muscle; ; ankle; ; sternocleidomastoid muscle; ; skeletal muscle tissue; ; plantaris muscle; ; medial head of gastrocnemius muscle; ; temporal muscle; ; choroid plexus of fourth ventricle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	sodium channel regulator activity; nitric-oxide synthase binding; transmembrane transporter binding; ATPase binding; structural molecule activity; calmodulin binding; protein binding; actin binding; PDZ domain binding;
Cellular component	cytoplasm; lateral plasma membrane; membrane; neuromuscular junction; plasma membrane; intracellular anatomical structure; cell junction; sarcolemma; syntrophin complex; cytoskeleton; protein-containing complex; dystrophin-associated glycoprotein complex; synapse;
Biological process	muscle contraction; negative regulation of peptidyl-cysteine S-nitrosylation; ventricular cardiac muscle cell action potential; regulation of heart rate; regulation of sodium ion transmembrane transport; regulation of ventricular cardiac muscle cell membrane repolarization;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	6640
	20648
	ENSG00000101400
	ENSMUSG00000027488
	Q13424
	Q61234
	NM_003098
	NM_009228
	NP_003089
	NP_033254
	Wikidata
View/Edit Human	View/Edit Mouse

Alpha-1-syntrophin is a protein that in humans is encoded by the SNTA1 gene. Alpha-1 syntrophin is a signal transducing adaptor protein and serves as a scaffold for various signaling molecules. Alpha-1 syntrophin contains a PDZ domain, two Pleckstrin homology domain and a 'syntrophin unique' domain.

Function

Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally related genes. The PDZ domain of syntrophin-α1(SNTA1), the most abundant isoform in the heart, has been reported to bind to the C-terminal domain of murine cardiac voltage-gated sodium channels (SkM2) causing altering ion channel activity leading to Long QT syndrome.