InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SNTA1

Summary

InnateDB Protein

IDBP-66575.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SNTA1

Protein Name

syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)

Synonyms

dJ1187J4.5; LQT12; SNT1; TACIP1;

Species

Homo sapiens

Ensembl Protein

ENSP00000217381

InnateDB Gene

IDBG-66573 (SNTA1)

Protein Structure

UniProt Annotation

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). {ECO:0000250}.

Subcellular Localization

Cell 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}.

Disease Associations

Long 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:0000269PubMed:18591664, ECO:0000269PubMed:19684871}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

High expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney and lung. Not detected in placenta.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 85 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Experimentally validated
Total	85 [view]
Protein-Protein	85 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005515	protein binding
GO:0005516	calmodulin binding
GO:0017080	sodium channel regulator activity
GO:0030165	PDZ domain binding
GO:0044325	ion channel binding
GO:0050998	nitric-oxide synthase binding
GO:0051117	ATPase binding

Biological Process

GO:0002027	regulation of heart rate
GO:0003117	regulation of vasoconstriction by circulating norepinephrine
GO:0006936	muscle contraction
GO:0007528	neuromuscular junction development
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization
GO:0086005	ventricular cardiac muscle cell action potential
GO:1902083	negative regulation of peptidyl-cysteine S-nitrosylation
GO:1902305	regulation of sodium ion transmembrane transport

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005856	cytoskeleton
GO:0016013	syntrophin complex
GO:0016328	lateral plasma membrane
GO:0030054	cell junction
GO:0031594	neuromuscular junction
GO:0042383	sarcolemma
GO:0043234	protein complex
GO:0045211	postsynaptic membrane