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    SNTA1 syntrophin alpha 1 [ Homo sapiens (human) ]

    Gene ID: 6640, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    SNTA1 gene rescues ion channel function and is antiarrhythmic in cardiomyocytes derived from induced pluripotent stem cells from muscular dystrophy patients.

    SNTA1 gene rescues ion channel function and is antiarrhythmic in cardiomyocytes derived from induced pluripotent stem cells from muscular dystrophy patients.
    Jimenez-Vazquez EN, Arad M, Macías Á, Vera-Pedrosa ML, Cruz FM, Gutierrez LK, Cuttitta AJ, Monteiro da Rocha A, Herron TJ, Ponce-Balbuena D, Guerrero-Serna G, Binah O, Michele DE, Jalife J., Free PMC Article

    07/2/2022
    Jasplakinolide Attenuates Cell Migration by Impeding Alpha-1-syntrophin Protein Phosphorylation in Breast Cancer Cells.

    Jasplakinolide Attenuates Cell Migration by Impeding Alpha-1-syntrophin Protein Phosphorylation in Breast Cancer Cells.
    Ali R, Mir HA, Hamid R, Shah RA, Khanday FA, Bhat SS.

    10/9/2021
    alpha-Syntrophin alleviates ER stress to maintain protein homeostasis during myoblast differentiation.

    α-Syntrophin alleviates ER stress to maintain protein homeostasis during myoblast differentiation.
    Moon JY, Kim HS.

    07/24/2021
    Soluble galectin-3 was, however, reduced upon SNTA knock-down and increased upon SNTA overexpression.

    Alpha-syntrophin deficiency protects against non-alcoholic steatohepatitis associated increase of macrophages, CD8(+) T-cells and galectin-3 in the liver.
    Rein-Fischboeck L, Haberl EM, Bajraktari G, Feder S, Pohl R, Eggenhofer E, Buechler C.

    07/25/2020
    Data (including data from studies conducted in knockout mice) suggest that SNTA1 is involved in regulation of expression of TUBA8 in hepatocytes (but not in hepatic stellate cells); here, SNTA1 protein levels are inversely related to TUBA8 protein expression in hepatocyte cell line. (SNTA1 = syntrophin alpha-1; TUBA8 = tubulin alpha-8 chain)

    Alpha-syntrophin dependent expression of tubulin alpha 8 protein in hepatocytes.
    Rein-Fischboeck L, Bajraktari G, Pohl R, Feder S, Eisinger K, Mages W, Haberl EM, Buechler C.

    01/12/2019
    not associated with sudden infant death syndrome

    The gene encoding the inwardly rectifying potassium channel Kir4.1 may be involved in sudden infant death syndrome.
    Opdal SH, Vege Å, Stray-Pedersen A, Rognum TO.

    05/5/2018
    Low SNTA expression is associated with non-alcoholic steatohepatitis but is unchanged in hepatocellular carcinoma.

    The adaptor protein alpha-syntrophin is reduced in human non-alcoholic steatohepatitis but is unchanged in hepatocellular carcinoma.
    Rein-Fischboeck L, Pohl R, Haberl EM, Weiss TS, Buechler C.

    11/25/2017
    A novel SNTA1 variant is likely causative for drug induced long-QT syndrome by augmenting the late sodium current.

    α1-Syntrophin Variant Identified in Drug-Induced Long QT Syndrome Increases Late Sodium Current.
    Choi JI, Wang C, Thomas MJ, Pitt GS., Free PMC Article

    08/6/2016
    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.

    The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.
    Winkel BG, Yuan L, Olesen MS, Sadjadieh G, Wang Y, Risgaard B, Jabbari R, Haunsø S, Holst AG, Hollegaard MV, Tfelt-Hansen J, Jespersen T.

    03/12/2016
    our results present a possible mechanism of Rac1 activation involving SNTA1 and emphasise its role in ROS generation, cell migration, and acquisition of malignancy.

    Role of SNTA1 in Rac1 activation, modulation of ROS generation, and migratory potential of human breast cancer cells.
    Bhat HF, Baba RA, Adams ME, Khanday FA., Free PMC Article

    04/12/2014
    Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.

    Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.
    Na I, Redmon D, Kopa M, Qin Y, Xue B, Uversky VN., Free PMC Article

    04/5/2014
    alpha-Syntrophin, which resides in nuclei of myocytes, functions as the upstream mediator of nuclear nNOS translocation and nNOS-dependent mitochondrial biogenesis.

    Nuclear recruitment of neuronal nitric-oxide synthase by α-syntrophin is crucial for the induction of mitochondrial biogenesis.
    Aquilano K, Baldelli S, Ciriolo MR., Free PMC Article

    03/22/2014
    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.

    Involvement 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.
    Harisseh R, Chatelier A, Magaud C, Déliot N, Constantin B.

    06/29/2013
    The combined mutations of A261V-SNTA1 plus R800L-SCN5A increase the INa current late/peak ratio and time constants of current decay.

    Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.
    Hu RM, Tan BH, Orland KM, Valdivia CR, Peterson A, Pu J, Makielski JC., Free PMC Article

    06/15/2013
    In contrast to stomach, lung, colon and rectal cancers, SNTA1 protein was found to be downregulated in esophageal cancers and upregulated in breast cancer.

    Alpha-1-syntrophin protein is differentially expressed in human cancers.
    Bhat HF, Baba RA, Bashir M, Saeed S, Kirmani D, Wani MM, Wani NA, Wani KA, Khanday FA.

    07/16/2011
    Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.

    Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.
    Cheng J, Van Norstrand DW, Medeiros-Domingo A, Valdivia C, Tan BH, Ye B, Kroboth S, Vatta M, Tester DJ, January CT, Makielski JC, Ackerman MJ, Cheng J, Van Norstrand DW, Medeiros-Domingo A, Valdivia C, Tan BH, Ye B, Kroboth S, Vatta M, Tester DJ, January CT, Makielski JC, Ackerman MJ., Free PMC Articles: PMC2810855, PMC2810855

    01/21/2010
    SNTA1 is a new susceptibility gene for LQTS. A257G-SNTA1 can cause gain-of-function of Na(v)1.5 similar to the LQT3.

    alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.
    Wu G, Ai T, Kim JJ, Mohapatra B, Xi Y, Li Z, Abbasi S, Purevjav E, Samani K, Ackerman MJ, Qi M, Moss AJ, Shimizu W, Towbin JA, Cheng J, Vatta M, Wu G, Ai T, Kim JJ, Mohapatra B, Xi Y, Li Z, Abbasi S, Purevjav E, Samani K, Ackerman MJ, Qi M, Moss AJ, Shimizu W, Towbin JA, Cheng J, Vatta M., Free PMC Articles: PMC2726717, PMC2726717

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.
    Cheng J, Van Norstrand DW, Medeiros-Domingo A, Valdivia C, Tan BH, Ye B, Kroboth S, Vatta M, Tester DJ, January CT, Makielski JC, Ackerman MJ, Cheng J, Van Norstrand DW, Medeiros-Domingo A, Valdivia C, Tan BH, Ye B, Kroboth S, Vatta M, Tester DJ, January CT, Makielski JC, Ackerman MJ.

    alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.
    Wu G, Ai T, Kim JJ, Mohapatra B, Xi Y, Li Z, Abbasi S, Purevjav E, Samani K, Ackerman MJ, Qi M, Moss AJ, Shimizu W, Towbin JA, Cheng J, Vatta M, Wu G, Ai T, Kim JJ, Mohapatra B, Xi Y, Li Z, Abbasi S, Purevjav E, Samani K, Ackerman MJ, Qi M, Moss AJ, Shimizu W, Towbin JA, Cheng J, Vatta M.

    09/16/2009
    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.

    Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.
    Ueda K, Valdivia C, Medeiros-Domingo A, Tester DJ, Vatta M, Farrugia G, Ackerman MJ, Makielski JC., Free PMC Article

    01/21/2010
    alpha1D-adrenergic receptors are regulated by syntrophins through a PDZ domain-mediated interaction

    Syntrophins regulate alpha1D-adrenergic receptors through a PDZ domain-mediated interaction.
    Chen Z, Hague C, Hall RA, Minneman KP.

    01/21/2010
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