SNTA1 (syntrophin alpha 1)

2011-08-01  

Identity

HGNC
LOCATION
20q11.21
LOCUSID
ALIAS
LQT12,SNT1,TACIP1,dJ1187J4.5
FUSION GENES

Other Information

Locus ID:

NCBI: 6640
MIM: 601017
HGNC: 11167
Ensembl: ENSG00000101400

Variants:

dbSNP: 6640
ClinVar: 6640
TCGA: ENSG00000101400
COSMIC: SNTA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101400ENST00000217381Q13424

Expression (GTEx)

0
50
100
150
200

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
185916642008Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.122
196848712008alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.40
196848712008alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.40
165338132006Syntrophins regulate alpha1D-adrenergic receptors through a PDZ domain-mediated interaction.27
242351392014Nuclear recruitment of neuronal nitric-oxide synthase by α-syntrophin is crucial for the induction of mitochondrial biogenesis.27
200090792009Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.23
200090792009Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.23
234269652013Involvement of TRPV2 and SOCE in calcium influx disorder in DMD primary human myotubes with a specific contribution of α1-syntrophin and PLC/PKC in SOCE regulation.11
244344362014Role of SNTA1 in Rac1 activation, modulation of ROS generation, and migratory potential of human breast cancer cells.8
233768252013Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.6

Citation

Dessen P

SNTA1 (syntrophin alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-08-01

Online version: http://atlasgeneticsoncology.org/gene/52306/snta1