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    STX1A syntaxin 1A [ Homo sapiens (human) ]

    Gene ID: 6804, updated on 14-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Assessment of Stx-1A gene polymorphism (rs1569061) in relation to the development of multiple sclerosis in Egyptian patients.

    Assessment of Stx-1A gene polymorphism (rs1569061) in relation to the development of multiple sclerosis in Egyptian patients.
    Habib CA, El-Sebai AA, Fouad MM, El-Mohamdy MA, Abdel Ghani AM, Bawady SA.

    04/19/2024
    Syntaxin1A overexpression and pain insensitivity in individuals with 7q11.23 duplication syndrome.

    Syntaxin1A overexpression and pain insensitivity in individuals with 7q11.23 duplication syndrome.
    Iadarola MJ, Sapio MR, Loydpierson AJ, Mervis CB, Fehrenbacher JC, Vasko MR, Maric D, Eisenberg DP, Nash TA, Kippenhan JS, Garvey MH, Mannes AJ, Gregory MD, Berman KF., Free PMC Article

    02/24/2024
    Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.

    Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.
    Luppe J, Sticht H, Lecoquierre F, Goldenberg A, Gorman KM, Molloy B, Agolini E, Novelli A, Briuglia S, Kuismin O, Marcelis C, Vitobello A, Denommé-Pichon AS, Julia S, Lemke JR, Abou Jamra R, Platzer K., Free PMC Article

    03/16/2023
    Syntaxin-1 and Insulinoma-Associated Protein 1 Expression in Breast Neoplasms with Neuroendocrine Features.

    Syntaxin-1 and Insulinoma-Associated Protein 1 Expression in Breast Neoplasms with Neuroendocrine Features.
    Turkevi-Nagy S, Báthori Á, Böcz J, Krenács L, Cserni G, Kővári B., Free PMC Article

    02/12/2022
    Oligomeric alpha-Syn and SNARE complex proteins in peripheral extracellular vesicles of neural origin are biomarkers for Parkinson's disease.

    Oligomeric α-Syn and SNARE complex proteins in peripheral extracellular vesicles of neural origin are biomarkers for Parkinson's disease.
    Agliardi C, Meloni M, Guerini FR, Zanzottera M, Bolognesi E, Baglio F, Clerici M.

    12/11/2021
    De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A.

    De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A.
    Banne E, Falik-Zaccai T, Brielle E, Kalfon L, Ladany H, Klinger D, Schneidman-Duhovny D, Linial M.

    06/5/2021
    Syntaxin 1: A Novel Robust Immunophenotypic Marker of Neuroendocrine Tumors.

    Syntaxin 1: A Novel Robust Immunophenotypic Marker of Neuroendocrine Tumors.
    Kővári B, Turkevi-Nagy S, Báthori Á, Fekete Z, Krenács L., Free PMC Article

    12/5/2020
    The N-terminal of the SNAP25 loop region binds with membrane, and this interaction induced a disorder-to-order conformational change of the loop, resulting in enhanced interaction between the C-terminal of the SNAP25 loop and syx-1. SNARE-complex assembly efficiency decreased when the electrostatic interaction between C-terminal of the SNAP25 loop and syx-1 was disrupted.

    Membrane-mediated disorder-to-order transition of SNAP25 flexible linker facilitates its interaction with syntaxin-1 and SNARE-complex assembly.
    Jiang X, Zhang Z, Cheng K, Wu Q, Jiang L, Pielak GJ, Liu M, Li C.

    05/30/2020
    Using a case-control study to explore the association between STX1A gene and children with ADHD in Chinese Han population, our results suggest STX1A genetic variants might contribute to the susceptibility of children ADHD.

    STX1A gene variations contribute to the susceptibility of children attention-deficit/hyperactivity disorder: a case-control association study.
    Wang M, Gu X, Huang X, Zhang Q, Chen X, Wu J.

    02/8/2020
    Results suggest a role of Stx-1A rs4717806 SNP in ischemic heart disease, possibly due to its influence in Stx-1A expression and, at cascade, to insulin secretion and to glucose dependent metabolism.

    The Syntaxin-1A gene single nucleotide polymorphism rs4717806 associates with the risk of ischemic heart disease.
    Guerini FR, Ripamonti E, Costa AS, Zanzottera M, Agliardi C, Bolognesi E, Clerici M, Racca V., Free PMC Article

    06/29/2019
    Some Autism spectrum disorder patients had haploidy of STX1A gene and lower STX1A gene expression.

    A part of patients with autism spectrum disorder has haploidy of HPC-1/syntaxin1A gene that possibly causes behavioral disturbance as in experimentally gene ablated mice.
    Kofuji T, Hayashi Y, Fujiwara T, Sanada M, Tamaru M, Akagawa K.

    04/28/2018
    Analysing protein mobility, cluster size and accessibility to myc-epitopes the authors show that forces acting on the transmembrane segment produce loose clusters, while cytoplasmic protein interactions mediate a tightly packed state.

    The packing density of a supramolecular membrane protein cluster is controlled by cytoplasmic interactions.
    Merklinger E, Schloetel JG, Weber P, Batoulis H, Holz S, Karnowski N, Finke J, Lang T., Free PMC Article

    04/7/2018
    Our results suggest that, as in the CNS, CADM1 interactions drive exocytic site assembly and promote actin network formation. These results support the broader hypothesis that the effects of cell-cell contact on beta-cell maturation and function are mediated by the same extracellular protein interactions that drive the formation of the presynaptic exocytic machinery. These interactions may be therapeutic targets for re...

    Extracellular CADM1 interactions influence insulin secretion by rat and human islet β-cells and promote clustering of syntaxin-1.
    Zhang C, Caldwell TA, Mirbolooki MR, Duong D, Park EJ, Chi NW, Chessler SD., Free PMC Article

    06/10/2017
    A significant interactive two-locus model of STX1A_rs4363087|VAMP2_rs2278637 (presynaptic genes) was observed among SVC variants in all epilepsy cases.

    Synergistic association of STX1A and VAMP2 with cryptogenic epilepsy in North Indian population.
    Baghel R, Grover S, Kaur H, Jajodia A, Parween S, Sinha J, Srivastava A, Srivastava AK, Bala K, Chandna P, Kushwaha S, Agarwal R, Kukreti R., Free PMC Article

    06/10/2017
    Mislocalization of syntaxin-1 was found in pluripotent stem cells from epileptic encephalopathy patient.

    Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy.
    Yamashita S, Chiyonobu T, Yoshida M, Maeda H, Zuiki M, Kidowaki S, Isoda K, Morimoto M, Kato M, Saitsu H, Matsumoto N, Nakahata T, Saito MK, Hosoi H.

    08/20/2016
    Blockade of the SNARE protein syntaxin 1 inhibits glioblastoma tumor growth.

    Blockade of the SNARE protein syntaxin 1 inhibits glioblastoma tumor growth.
    Ulloa F, Gonzàlez-Juncà A, Meffre D, Barrecheguren PJ, Martínez-Mármol R, Pazos I, Olivé N, Cotrufo T, Seoane J, Soriano E., Free PMC Article

    02/27/2016
    SNARE complex genes and their interactions may play a significant role in susceptibility and working memory of ADHD.

    Synaptosome-related (SNARE) genes and their interactions contribute to the susceptibility and working memory of attention-deficit/hyperactivity disorder in males.
    Gao Q, Liu L, Chen Y, Li H, Yang L, Wang Y, Qian Q.

    08/15/2015
    We described clinical, genetic, and functional data from 17 families with a diagnosis of benign familial neonatal epilepsy caused by KCNQ2 or KCNQ3 mutations and we showed that some mutations lead to a reduction of Q2 channel regulation by syntaxin-1A.

    Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.
    Soldovieri MV, Boutry-Kryza N, Milh M, Doummar D, Heron B, Bourel E, Ambrosino P, Miceli F, De Maria M, Dorison N, Auvin S, Echenne B, Oertel J, Riquet A, Lambert L, Gerard M, Roubergue A, Calender A, Mignot C, Taglialatela M, Lesca G.

    10/11/2014
    no associaton with idiopathic generalized epilepsy was found regarding Intron 7 rs1569061 of Syntaxin 1A gene, MnlI rs3746544 and DdeI rs1051312 polymorphisms of SNAP-25 gene compared with healthy subjects

    Genetic variants of synaptic vesicle and presynaptic plasma membrane proteins in idiopathic generalized epilepsy.
    Yilmaz M, Edgunlu TG, Yilmaz N, Cetin ES, Celik SK, Emir GK, Sözen A.

    09/20/2014
    The clinical relevance of STX1A variants in CF

    Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A.
    von Kanel T, Stanke F, Weber M, Schaller A, Racine J, Kraemer R, Chanson M, Tümmler B, Gallati S., Free PMC Article

    08/9/2014
    PIP2 affects islet beta-cell KATP channels not only by its actions on Kir6.2 but also by sequestering Syn-1A to modulate Syn-1A availability and its interactions with SUR1 on PM.

    Phosphatidylinositol 4,5-biphosphate (PIP2) modulates interaction of syntaxin-1A with sulfonylurea receptor 1 to regulate pancreatic β-cell ATP-sensitive potassium channels.
    Liang T, Xie L, Chao C, Kang Y, Lin X, Qin T, Xie H, Feng ZP, Gaisano HY., Free PMC Article

    04/26/2014
    Prefusion structure of syntaxin-1A suggests pathway for folding into neuronal trans-SNARE complex fusion intermediate.

    Prefusion structure of syntaxin-1A suggests pathway for folding into neuronal trans-SNARE complex fusion intermediate.
    Liang B, Kiessling V, Tamm LK., Free PMC Article

    02/1/2014
    N-peptide and LE mutation have no effect on the global conformation of the Munc18a-Syx1a complex.

    Syntaxin1a variants lacking an N-peptide or bearing the LE mutation bind to Munc18a in a closed conformation.
    Colbert KN, Hattendorf DA, Weiss TM, Burkhardt P, Fasshauer D, Weis WI., Free PMC Article

    11/30/2013
    the preferential binding of CAPS1 to open syntaxin-1 can contribute to the stabilization of the open state of syntaxin-1 during its transition from "closed" state to the SNARE complex formation.

    Calcium-dependent activator protein for secretion 1 (CAPS1) binds to syntaxin-1 in a distinct mode from Munc13-1.
    Parsaud L, Li L, Jung CH, Park S, Saw NM, Park S, Kim MY, Sugita S., Free PMC Article

    11/2/2013
    The histone modification marks were significantly increased in bipolar disorder and major depression and this effect was correlated with significant increases in Syn1a gene expression.

    H3K4 tri-methylation in synapsin genes leads to different expression patterns in bipolar disorder and major depression.
    Cruceanu C, Alda M, Nagy C, Freemantle E, Rouleau GA, Turecki G., Free PMC Article

    08/31/2013
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