SNTA1

GENE INFORMATION

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Gene name

SNTA1 (HGNC Symbol)

Synonyms

LQT12, SNT1, TACIP1

Description

Syntrophin, alpha 1 (HGNC Symbol)

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]

Chromosome

20

Cytoband

q11.21

Chromosome location (bp)

31995761 - 32031698

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000101400 (version 75.37)

Entrez gene

6640

UniProt

Q13424 (UniProt - Evidence at protein level)

neXtProt

NX_Q13424

Antibodypedia

SNTA1 antibodies
 

PROTEIN VIEW

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SNTA1-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SNTA1-001 ENSP00000217381
ENST00000217381
Q13424
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