Human SNTA1 Recombinant Protein (RPPB4763)

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SKU:
RPPB4763
Product Type:
Recombinant Protein
Species:
Human
Uniprot:
Q13424

Description

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Product Name:Human SNTA1 Recombinant Protein
Product Code:RPPB4763
Size:10µg
Species:Human
Target:SNTA1
Synonyms:Alpha-1-syntrophin, 59 kDa dystrophin-associated protein A1 acidic component 1, Pro-TGF-alpha cytoplasmic domain-interacting protein 1, TACIP1, Syntrophin-1, SNTA1, SNT1, LQT12, dJ1187J4.5.
Source:Escherichia Coli
Physical Appearance:Sterile Filtered colorless solution.
Formulation:SNTA1 protein solution (1mg/ml) containing 20mM Tris-HCl buffer (pH 8.0), 10% glycerol, 1mM DTT and 0.15M NaCl.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 80% as determined by SDS-PAGE.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MGSMASGRRA PRTGLLELRA GAGSGAGGER WQRVLLSLAE DVLTVSPADG DPGPEPGAPR EQEPAQLNGA AEPGAGPPQL PEALLLQRRR VTVRKADAGG LGISIKGGRE NKMPILISKI FKGLAADQTE ALFVGDAILS VNGEDLSSAT HDEAVQVLKK TGKEVVLEVK YMKDVSPYFK NSTGGTSVGW DSPPASPLQR QPSSPGPTPR NFSEAKHMSL KMAYVSKRCT PNDPEPRYLE ICSADGQDTL FLRAKDEASA RSWATAIQAQ VNTLTPRVKD ELQALLAATS TAGSQDIKQI GWLTEQLPSG GTAPTLALLT EKELLLYLSL PETREALSRP ARTAPLIATR LVHSGPSKGS VPYDAELSFA LRTGTRHGVD THLFSVESPQ ELAAWTRQLV DGCHRAAEGV QEVSTACTWN GRPCSLSVHI DKGFTLWAAE PGAARAVLLR QPFEKLQMSS DDGASLLFLD FGGAEGEIQL DLHSCPKTIV FIIHSFLSAK VTRLGLLA

SNTA1 is a member of the syntrophin gene family. SNTA1 is a peripheral membrane protein found linked with dystrophin and dystrophin-related proteins. Dystrophin is a large, rod-like cytoskeletal protein located at the inner surface of muscle fibers. Dystrophin is absent in Duchenne Muscular Dystrophy patients, however it is present in reduced amounts in Becker Muscular Dystrophy patients. Syntrophins are cytoplasmic peripheral membrane scaffold proteins and components of the dystrophin-associated protein complex. The N-terminal PDZ domain of SNTA1 interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. In addition, SNTA1 associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. The SNTA1 gene is a predisposition locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). SNTA1 also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and modifies intracellular calcium ion levels in muscle tissue.

SNTA1 Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 528 amino acids (1-505 a.a.) and having a molecular mass of 56.3kDa. SNTA1 is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

UniProt Protein Function:SNTA1: 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. Defects in SNTA1 are the cause of long QT syndrome type 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 excercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Belongs to the syntrophin family.Protein type: Adaptor/scaffold; Membrane protein, peripheral; Lipid-bindingChromosomal Location of Human Ortholog: 20q11.2Cellular Component: postsynaptic membrane; cytoskeleton; protein complex; cytoplasm; syntrophin complex; intracellular; cell junction; neuromuscular junction; sarcolemma; lateral plasma membraneMolecular Function: calmodulin binding; protein binding; sodium channel regulator activity; actin binding; nitric-oxide synthase binding; ATPase binding; PDZ domain bindingBiological Process: muscle contraction; regulation of vasoconstriction by circulating norepinephrine; regulation of heart rate; neuromuscular junction developmentDisease: Long Qt Syndrome 12
UniProt Protein Details:
NCBI Summary: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]
UniProt Code:Q13424
NCBI GenInfo Identifier:4507137
NCBI Gene ID:6640
NCBI Accession:NP_003089.1
UniProt Secondary Accession:Q13424
UniProt Related Accession:Q13424
Molecular Weight:Observed Molecular Weight: (Observed)53kD.Predicted Molecular Weight: (Calculated)54kDa.
NCBI Full Name:alpha-1-syntrophin
NCBI Synonym Full Names:syntrophin alpha 1
NCBI Official Symbol:SNTA1��
NCBI Official Synonym Symbols:SNT1; LQT12; TACIP1; dJ1187J4.5��
NCBI Protein Information:alpha-1-syntrophin
UniProt Protein Name:Alpha-1-syntrophin
UniProt Synonym Protein Names:59 kDa dystrophin-associated protein A1 acidic component 1; Pro-TGF-alpha cytoplasmic domain-interacting protein 1; TACIP1; Syntrophin-1
Protein Family:Alpha-1-syntrophin
UniProt Gene Name:SNTA1��
UniProt Entry Name:SNTA1_HUMAN
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