Description: Homo sapiens syntrophin, alpha 1 (SNTA1), mRNA. RefSeq Summary (NM_003098): 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. [provided by RefSeq, Jan 2013]. Transcript (Including UTRs) Position: hg19 chr20:31,995,763-32,031,698 Size: 35,936 Total Exon Count: 8 Strand: - Coding Region Position: hg19 chr20:31,996,313-32,031,426 Size: 35,114 Coding Exon Count: 8
ID:SNTA1_HUMAN DESCRIPTION: RecName: Full=Alpha-1-syntrophin; AltName: Full=59 kDa dystrophin-associated protein A1 acidic component 1; AltName: Full=Pro-TGF-alpha cytoplasmic domain-interacting protein 1; Short=TACIP1; AltName: Full=Syntrophin-1; 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). SUBUNIT: Monomer and homodimer. Interacts with the other members of the syntrophin family SNTB1 and SNTB2; SGCG and SGCA of the dystrophin glycoprotein complex; NOS1; GRB2; the sodium channel proteins SCN4A and SCN5A; F-actin and calmodulin (By similarity). Interacts with dystrophin protein DMD and related proteins DTNA and UTRN and with MAPK12, TGFA and GA. INTERACTION: O95477:ABCA1; NbExp=2; IntAct=EBI-717191, EBI-784112; Q63538:Mapk12 (xeno); NbExp=5; IntAct=EBI-717191, EBI-783937; SUBCELLULAR LOCATION: Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side (By similarity). Cell junction (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions (By similarity). TISSUE SPECIFICITY: High expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney and lung. Not detected in placenta. DOMAIN: The PH 1 domain mediates the oligomerization in a calcium dependent manner, and the association with the phosphatidylinositol 4,5-bisphosphate (By similarity). DOMAIN: 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). DOMAIN: The SU domain binds calmodulin in a calcium-dependent manner (By similarity). PTM: Phosphorylated by CaM-kinase II. Phosphorylation may inhibit the interaction with DMD (By similarity). DISEASE: Defects in SNTA1 are the cause of long QT syndrome type 12 (LQT12) [MIM:612955]. 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 excercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. SIMILARITY: Belongs to the syntrophin family. SIMILARITY: Contains 1 PDZ (DHR) domain. SIMILARITY: Contains 2 PH domains. SIMILARITY: Contains 1 SU (syntrophin unique) domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q13424
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
