MGP Database

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MGP002945

UniProt Annotations

Entry Information
Gene Namesyntrophin, alpha 1
Protein EntrySNTA1_HUMAN
UniProt IDQ13424
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13424-1; Sequence=Displayed; Name=2; IsoId=Q13424-2; Sequence=VSP_056827; Note=No experimental confirmation available.;
DiseaseLong QT syndrome 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 exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269|PubMed:18591664, ECO:0000269|PubMed:19684871}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe 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). {ECO:0000250}.
DomainThe PH 1 domain mediates the oligomerization in a calcium dependent manner, and the association with the phosphatidylinositol 4,5-bisphosphate. {ECO:0000250}.
DomainThe SU domain binds calmodulin in a calcium-dependent manner. {ECO:0000250}.
FunctionAdapter 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). {ECO:0000250}.
InteractionO95477:ABCA1; NbExp=2; IntAct=EBI-717191, EBI-784112; Q63538:Mapk12 (xeno); NbExp=5; IntAct=EBI-717191, EBI-783937;
PtmPhosphorylated by CaM-kinase II. Phosphorylation may inhibit the interaction with DMD (By similarity). {ECO:0000250}.
SimilarityBelongs to the syntrophin family. {ECO:0000305}.
SimilarityContains 1 PDZ (DHR) domain. {ECO:0000255|PROSITE- ProRule:PRU00143}.
SimilarityContains 1 SU (syntrophin unique) domain. {ECO:0000305}.
SimilarityContains 2 PH domains. {ECO:0000255|PROSITE- ProRule:PRU00145}.
Subcellular LocationCell membrane, sarcolemma {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cell junction {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions. {ECO:0000250}.
SubunitMonomer 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. Interacts with MYOC; regulates muscle hypertrophy (By similarity). {ECO:0000250}.
Tissue SpecificityHigh expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney and lung. Not detected in placenta.
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