Property Summary

NCBI Gene PubMed Count 47
PubMed Score 31.74
PubTator Score 14.35

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
osteosarcoma 1.681 3.0e-04
glioblastoma -1.400 2.9e-06
group 4 medulloblastoma -2.100 5.0e-07
atypical teratoid/rhabdoid tumor -1.400 3.2e-05
medulloblastoma, large-cell -2.000 1.9e-04
primitive neuroectodermal tumor -1.600 7.8e-04
acute quadriplegic myopathy -1.089 4.9e-06
breast carcinoma -1.500 1.7e-04
fibroadenoma -1.400 4.1e-02
pediatric high grade glioma -1.500 7.9e-06
pilocytic astrocytoma -1.400 4.4e-07

 OMIM Phenotype (1)

Gene RIF (15)

PMID Text
27028743 A novel SNTA1 variant is likely causative for drug induced long-QT syndrome by augmenting the late sodium current.
25757662 In a nonreferred nationwide Danish cohort of SIDS cases, up to 5/66 (7.5%) of SIDS cases can be explained by genetic variants in the sodium channel complex genes.
24434436 our results present a possible mechanism of Rac1 activation involving SNTA1 and emphasise its role in ROS generation, cell migration, and acquisition of malignancy.
24235139 alpha-Syntrophin, which resides in nuclei of myocytes, functions as the upstream mediator of nuclear nNOS translocation and nNOS-dependent mitochondrial biogenesis.
24014171 Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.
23426965 Calcium homeostasis mishandling in Duchenne muscular dystrophy myotubes depends on store operated calcium entry under the influence alpha1-syntrophin regulation as well as TRPV2-dependant cation influx.
23376825 The combined mutations of A261V-SNTA1 plus R800L-SCN5A increase the INa current late/peak ratio and time constants of current decay.
22721673 Yeast two hybrid assay identifies the HIV-1 Nef-interacting protein syntrophin
21091386 In contrast to stomach, lung, colon and rectal cancers, SNTA1 protein was found to be downregulated in esophageal cancers and upregulated in breast cancer.
20009079 Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.
20009079 Observational study of gene-disease association. (HuGE Navigator)
19684871 SNTA1 is a new susceptibility gene for LQTS. A257G-SNTA1 can cause gain-of-function of Na(v)1.5 similar to the LQT3.
19684871 Observational study of gene-disease association. (HuGE Navigator)
18591664 These results establish an SNTA1-based nNOS complex attached to SCN5A as a key regulator of sodium current and suggest that SNTA1 be considered a rare long QT syndrome-susceptibility gene.
16533813 alpha1D-adrenergic receptors are regulated by syntrophins through a PDZ domain-mediated interaction

AA Sequence

MASGRRAPRTGLLELRAGAGSGAGGERWQRVLLSLAEDVLTVSPADGDPGPEPGAPREQEPAQLNGAAEP      1 - 70
GAGPPQLPEALLLQRRRVTVRKADAGGLGISIKGGRENKMPILISKIFKGLAADQTEALFVGDAILSVNG     71 - 140
EDLSSATHDEAVQVLKKTGKEVVLEVKYMKDVSPYFKNSTGGTSVGWDSPPASPLQRQPSSPGPTPRNFS    141 - 210
EAKHMSLKMAYVSKRCTPNDPEPRYLEICSADGQDTLFLRAKDEASARSWATAIQAQVNTLTPRVKDELQ    211 - 280
ALLAATSTAGSQDIKQIGWLTEQLPSGGTAPTLALLTEKELLLYLSLPETREALSRPARTAPLIATRLVH    281 - 350
SGPSKGSVPYDAELSFALRTGTRHGVDTHLFSVESPQELAAWTRQLVDGCHRAAEGVQEVSTACTWNGRP    351 - 420
CSLSVHIDKGFTLWAAEPGAARAVLLRQPFEKLQMSSDDGASLLFLDFGGAEGEIQLDLHSCPKTIVFII    421 - 490
HSFLSAKVTRLGLLA                                                           491 - 505
//

Text Mined References (51)

PMID Year Title
27028743 2016 ?1-Syntrophin Variant Identified in Drug-Induced Long QT Syndrome Increases Late Sodium Current.
25757662 2015 The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.
24434436 2014 Role of SNTA1 in Rac1 activation, modulation of ROS generation, and migratory potential of human breast cancer cells.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24235139 2014 Nuclear recruitment of neuronal nitric-oxide synthase by ?-syntrophin is crucial for the induction of mitochondrial biogenesis.
24014171 2013 Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.
23426965 2013 Involvement of TRPV2 and SOCE in calcium influx disorder in DMD primary human myotubes with a specific contribution of ?1-syntrophin and PLC/PKC in SOCE regulation.
23376825 2013 Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21164104 2011 SAP97 and dystrophin macromolecular complexes determine two pools of cardiac sodium channels Nav1.5 in cardiomyocytes.
21091386 2011 Alpha-1-syntrophin protein is differentially expressed in human cancers.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20009079 2009 Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.
19931615 2010 MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation.
19684871 2008 alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18591664 2008 Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.
17628813 2007 MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16637659 2006 Uncovering quantitative protein interaction networks for mouse PDZ domains using protein microarrays.
16533813 2006 Syntrophins regulate alpha1D-adrenergic receptors through a PDZ domain-mediated interaction.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16192273 2005 Structure of the unphosphorylated STAT5a dimer.
16192269 2005 Purification of ATP-binding cassette transporter A1 and associated binding proteins reveals the importance of beta1-syntrophin in cholesterol efflux.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15024025 2004 Protein trafficking and anchoring complexes revealed by proteomic analysis of inward rectifier potassium channel (Kir2.x)-associated proteins.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14623885 2004 DAMAGE, a novel alpha-dystrobrevin-associated MAGE protein in dystrophin complexes.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12206805 2002 Dystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy?
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
11747091 2001 Association of neuronal nitric oxide synthase (nNOS) with alpha1-syntrophin at the sarcolemma.
11717465 2001 Syntrophin-dependent expression and localization of Aquaporin-4 water channel protein.
11571312 2001 In vivo requirement of the alpha-syntrophin PDZ domain for the sarcolemmal localization of nNOS and aquaporin-4.
11551227 2001 Mouse alpha1-syntrophin binding to Grb2: further evidence of a role for syntrophin in cell signaling.
11352924 2001 Interaction of gamma 1-syntrophin with diacylglycerol kinase-zeta. Regulation of nuclear localization by PDZ interactions.
11278583 2001 Multiple effector domains within SNT1 coordinate ERK activation and neuronal differentiation of PC12 cells.
11168526 2001 Differential targeting of components of the dystrophin complex to the postsynaptic membrane.
11163757 2001 The C-terminus of human glutaminase L mediates association with PDZ domain-containing proteins.
11069112 2000 Alternative splicing of dystrobrevin regulates the stoichiometry of syntrophin binding to the dystrophin protein complex.
10995443 2000 Absence of alpha-syntrophin leads to structurally aberrant neuromuscular synapses deficient in utrophin.
10404183 1999 Interactions between beta 2-syntrophin and a family of microtubule-associated serine/threonine kinases.
10230395 1999 A role for a PDZ protein in the early secretory pathway for the targeting of proTGF-alpha to the cell surface.
10221915 1999 Unexpected modes of PDZ domain scaffolding revealed by structure of nNOS-syntrophin complex.
10212242 1999 Stress-activated protein kinase-3 interacts with the PDZ domain of alpha1-syntrophin. A mechanism for specific substrate recognition.
9512352 1998 Alpha1-syntrophin has distinct binding sites for actin and calmodulin.
9412493 1998 Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins.
8612778 1996 Characterization of the dystrophin-syntrophin interaction using the two-hybrid system in yeast.
8576247 1996 The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives.
7890602 1995 Identification of alpha-syntrophin binding to syntrophin triplet, dystrophin, and utrophin.