InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SNTA1

Summary

InnateDB Gene

IDBG-66573.7

Last Modified

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

Gene Symbol

SNTA1

Gene Name

syntrophin, alpha 1

Synonyms

dJ1187J4.5; LQT12; SNT1; TACIP1

Species

Homo sapiens

Ensembl Gene

ENSG00000101400

Encoded Proteins

IDBP-66575

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

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 20:33407955-33443892

Strand

Reverse strand

Band

q11.21

Transcripts

ENST00000217381

ENSP00000217381

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

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000027488

View Gene Order

ENSBTAG00000000512

Not yet available

Pathways

NETPATH

REACTOME

KEGG

INOH

PID NCI

p38gammadeltapathway

Signaling mediated by p38-gamma and p38-delta

Cross-References

SwissProt

Q13424

TrEMBL

B3KTR0

UniProt Splice Variant

Entrez Gene

6640

UniGene

Hs.31121

RefSeq

NM_003098 XM_005260517

HUGO

HGNC:11167

OMIM

601017

CCDS

CCDS13220

HPRD

IMGT

EMBL

AK095942 AK291994 AL355392 BC026215 CH471077 S81737 U40571

GenPept

AAB36398 AAC50448 AAH26215 BAF84683 BAG53172 CAC15884 EAW76314 EAW76316 EAW76317

RNA Seq Atlas

6640