background:
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 SLCterminus 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].
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 dystrophin glycoprotein complex. May play a role in the regulation of secretory granules via its interaction with PTPRN.
Subunit:
Monomer and homodimer (Probable). Interacts with the other members of the syntrophin family: SNTA1 and SNTB1; and with the sodium channel proteins SCN4A and SCN5A. Interacts with SAST, MAST205, microtubules and microtubule-associated proteins. Interacts with the dystrophin protein DMD and related proteins DTNA and UTRN, and with the neuroregulin receptor ERBB4. Interacts with PTPRN when phosphorylated, protecting PTPRN from protein cleavage by CAPN1. Dephosphorylation upon insulin stimulation disrupts the interaction with PTPRN and results in the cleavage of PTPRN.
Subcellular Location:
Membrane. Cytoplasmic vesicle, secretory vesicle membrane; Peripheral membrane protein. Cell junction. Cytoplasm, cytoskeleton. Note=Membrane-associated. In muscle, it is exclusively localized at the neuromuscular junction. In insulinoma cell line, it is enriched in secretory granules.
Tissue Specificity:
Ubiquitous. Isoform 1 is the predominant isoform. Weak level of isoform 2 is present in all tested tissues, except in liver and heart where it is highly expressed.
Post-translational modifications:
Phosphorylated. Partially dephosphorylated upon insulin stimulation.
Similarity:
Belongs to the syntrophin family.
Contains 1 PDZ (DHR) domain.
Contains 2 PH domains.
Contains 1 SU (syntrophin unique) domain.
Database links:
Entrez Gene: 6128 Human
Entrez Gene: 20648 Mouse
Entrez Gene: 100009179 Rabbit
Entrez Gene: 362242 Rat
Omim: 601017 Human
SwissProt: Q13424 Human
SwissProt: Q61234 Mouse
SwissProt: Q28626 Rabbit
Unigene: 31121 Human
Unigene: 1541 Mouse
Unigene: 139656 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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