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    SLC18A1 solute carrier family 18 member A1 [ Homo sapiens (human) ]

    Gene ID: 6570, updated on 7-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Sclerosing Paragangliomas: Correlations of Histological Features with Patients' Genotype and Vesicular Monoamine Transporter Expression.

    Sclerosing Paragangliomas: Correlations of Histological Features with Patients' Genotype and Vesicular Monoamine Transporter Expression.
    Pucci A, Bacca A, Barravecchia I, Di Stefano I, Belgio B, Lorenzini D, Torregrossa L, Chiacchio S, Congregati C, Materazzi G, Ferrari M, Angeloni D, Bernini G, Basolo F., Free PMC Article

    12/17/2022
    Finding suggests that monoamine uptake by VMAT1 initially declined in early human evolution (from 130Glu/136Asn to 130Gly/136Thr) but increased along with the emergence of the 130Gly/136Ile variant around the time of the out of Africa dispersal of modern humans.

    Human-specific mutations in VMAT1 confer functional changes and multi-directional evolution in the regulation of monoamine circuits.
    Sato DX, Ishii Y, Nagai T, Ohashi K, Kawata M., Free PMC Article

    02/1/2020
    SV2 was highly expressed in neuroblastoma (NB) and can thus be useful marker in NB diagnostics. VMAT1 and VMAT2 were also expressed in NB but similar to syn less reliable as tumor markers.

    Synaptic Vesicle Protein 2 and Vesicular Monoamine Transporter 1 and 2 Are Expressed in Neuroblastoma.
    Georgantzi K, Tsolakis AV, Jakobson Å, Christofferson R, Janson ET, Grimelius L.

    01/25/2020
    SLC18A1 variants correlated with Anger and Vigor scores, only among males.

    Dysmorphic contribution of neurotransmitter and neuroendocrine system polymorphisms to subtherapeutic mood states.
    Gonzalez I, Polvillo R, Ruiz-Galdon M, Reyes-Engel A, Royo JL., Free PMC Article

    08/17/2019
    SLC18A1 as one potential pleiotropic gene overlapped between Mood disorders and Cardiometabolic diseases. Genetic variation in SLC18A1 made statistically significant contributions to Body Mass Index.

    Dopamine gene methylation patterns are associated with obesity markers and carbohydrate intake.
    Ramos-Lopez O, Riezu-Boj JI, Milagro FI, Martinez JA, MENA Project., Free PMC Article

    05/4/2019
    SLC18A1 might complement other biomarkers currently under study in relation to programmed cell death protein 1/programmed cell death protein ligand 1 inhibition

    Expression of the Vesicular Monoamine Transporter Gene Solute Carrier Family 18 Member 1 (SLC18A1) in Lung Cancer.
    Lehrer S, Rheinstein PH., Free PMC Article

    12/1/2018
    Polymorphisms within the SLC18A gene are associated with asthenozoospermia through sperm count and motility.

    Sperm count and motility are quantitatively affected by functional polymorphisms of HTR2A, MAOA and SLC18A.
    Cortés-Rodriguez M, Royo JL, Reyes-Palomares A, Lendínez AM, Ruiz-Galdón M, Reyes-Engel A.

    10/27/2018
    Vmat1 polymorphisms are not associated with suicidal behavior.

    Association Study of VMAT1 Polymorphisms and Suicide Behavior.
    Sayad A, Noroozi R, Khodamoradi Z, Omrani MD, Taheri M, Ghafouri-Fard S.

    09/22/2018
    results contribute to the evidence indicating an association between the VMAT1 gene and structural brain alterations in depression.

    Vesicular monoamine transporter 1 gene polymorphism and white matter integrity in major depressive disorder.
    Won E, Han KM, Kang J, Kim A, Yoon HK, Chang HS, Park JY, Lee MS, Greenberg T, Tae WS, Ham BJ.

    03/10/2018
    VMAT1 rs1390938/Thr136Ile is associated with mood, personality, and alcohol use in the general population. Subjects homozygous for the "hyperfunction" allele (AA; Ile/Ile) appear to be more resilient to these disorders.

    A Functional Vesicular Monoamine Transporter 1 (VMAT1) Gene Variant Is Associated with Affect and the Prevalence of Anxiety, Affective, and Alcohol Use Disorders in a Longitudinal Population-Representative Birth Cohort Study.
    Vaht M, Kiive E, Veidebaum T, Harro J., Free PMC Article

    02/3/2018
    The germline deletions at SLC18A1 contributed to the development of CRC.

    Deletions at SLC18A1 increased the risk of CRC and lower SLC18A1 expression associated with poor CRC outcome.
    Zhang D, Li Z, Xu X, Zhou D, Tang S, Yin X, Xu F, Li H, Zhou Y, Zhu T, Deng H, Zhang S, Huang Q, Wang J, Yin W, Zhu Y, Lai M.

    11/11/2017
    rs2270641 SNP was associated with ASD risk only in over-dominant model. AA genotype of the rs1390938 was protective against ASD under dominant and recessive models.

    Association study of the vesicular monoamine transporter 1 (VMAT1) gene with autism in an Iranian population.
    Noroozi R, Ghafouri-Fard S, Omrani MD, Habibi M, Sayad A, Taheri M.

    06/24/2017
    Genetic variants in VMAT1 contribute to the severity of alcohol withdrawal in patients of European descent.

    Genetic Variation in the Vesicular Monoamine Transporter 1 (VMAT1/SLC18A1) Gene and Alcohol Withdrawal Severity.
    Dutta N, Helton SG, Schwandt M, Zhu X, Momenan R, Lohoff FW.

    01/14/2017
    VMAT1 and VMAT2 are expressed in the majority of neuroblastomas

    Vesicular monoamine transporter protein expression correlates with clinical features, tumor biology, and MIBG avidity in neuroblastoma: a report from the Children's Oncology Group.
    Temple W, Mendelsohn L, Kim GE, Nekritz E, Gustafson WC, Lin L, Giacomini K, Naranjo A, Van Ryn C, Yanik GA, Kreissman SG, Hogarty M, Matthay KK, DuBois SG., Free PMC Article

    11/5/2016
    SLC18A1 gene polymorphisms are associated with the risk of paranoid schizophrenia in Russians and Tatars.

    [The association of polymorphisms in SLC18A1, TPH1 and RELN genes with risk of paranoid schizophrenia].
    Galaktionova DIu, Gareeva AE, Khusnutdinova EK, Nasedkina TV.

    05/2/2015
    The data of this study showed that VMAT1 polymorphisms influence monoamine signaling, the functional response of emotional brain circuits and risk for psychopathology.

    Functional genetic variants in the vesicular monoamine transporter 1 modulate emotion processing.
    Lohoff FW, Hodge R, Narasimhan S, Nall A, Ferraro TN, Mickey BJ, Heitzeg MM, Langenecker SA, Zubieta JK, Bogdan R, Nikolova YS, Drabant E, Hariri AR, Bevilacqua L, Goldman D, Doyle GA., Free PMC Article

    08/30/2014
    Deletion of amino acids 307-338 in hVMAT1 isoform-b abolishes transport activity, and a 136-Thr partially reduces activity of isoform-a.

    Thr136Ile polymorphism of human vesicular monoamine transporter-1 (SLC18A1 gene) influences its transport activity in vitro.
    Khalifa AM, Watson-Siriboe A, Shukry SG, Chiu WL, Nelson ME, Geng Y, Fischer-Stenger K, Porter JH, Stewart JK.

    01/12/2013
    we found a significant down-regulation of the gene coding for the vesicular monoamine transporter (VMAT1)in enteroendocrine cells infected with Chlamydia trachomatis

    Infection of human enteroendocrine cells with Chlamydia trachomatis: a possible model for pathogenesis in irritable bowel syndrome.
    Dlugosz A, Zakikhany K, Muschiol S, Hultenby K, Lindberg G.

    01/14/2012
    Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.
    Need AC, Keefe RS, Ge D, Grossman I, Dickson S, McEvoy JP, Goldstein DB., Free PMC Article

    02/11/2009
    Polymorphism in VMAT1 gene on chromosome 8p is associated with schizophrenia.

    Association between polymorphisms in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) on chromosome 8p and schizophrenia.
    Lohoff FW, Weller AE, Bloch PJ, Buono RJ, Doyle GA, Ferraro TN, Berrettini WH, Lohoff FW, Weller AE, Bloch PJ, Buono RJ, Doyle GA, Ferraro TN, Berrettini WH.

    01/21/2010
    Our findings support the hypothesis that anxiety-related personality traits are associated with variation in the VMAT1/SLC18A1 gene.

    Association between variation in the vesicular monoamine transporter 1 gene on chromosome 8p and anxiety-related personality traits.
    Lohoff FW, Lautenschlager M, Mohr J, Ferraro TN, Sander T, Gallinat J, Lohoff FW, Lautenschlager M, Mohr J, Ferraro TN, Sander T, Gallinat J.

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (7) articles

    An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    Shimada M, Miyagawa T, Kawashima M, Tanaka S, Honda Y, Honda M, Tokunaga K.

    Association study of 182 candidate genes in anorexia nervosa.
    Pinheiro AP, Bulik CM, Thornton LM, Sullivan PF, Root TL, Bloss CS, Berrettini WH, Schork NJ, Kaye WH, Bergen AW, Magistretti P, Brandt H, Crawford S, Crow S, Fichter MM, Goldman D, Halmi KA, Johnson C, Kaplan AS, Keel PK, Klump KL, La Via M, Mitchell JE, Strober M, Rotondo A, Treasure J, Woodside DB.

    Association study between reward dependence temperament and a polymorphism in the phenylethanolamine N-methyltransferase gene in a Japanese female population.
    Yamano E, Isowa T, Nakano Y, Matsuda F, Hashimoto-Tamaoki T, Ohira H, Kosugi S.

    Association between polymorphisms in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) on chromosome 8p and schizophrenia.
    Lohoff FW, Weller AE, Bloch PJ, Buono RJ, Doyle GA, Ferraro TN, Berrettini WH, Lohoff FW, Weller AE, Bloch PJ, Buono RJ, Doyle GA, Ferraro TN, Berrettini WH.

    Association between variation in the vesicular monoamine transporter 1 gene on chromosome 8p and anxiety-related personality traits.
    Lohoff FW, Lautenschlager M, Mohr J, Ferraro TN, Sander T, Gallinat J, Lohoff FW, Lautenschlager M, Mohr J, Ferraro TN, Sander T, Gallinat J.

    Association study of the vesicular monoamine transporter 1 (VMAT1) gene with schizophrenia in a Japanese population.
    Richards M, Iijima Y, Kondo H, Shizuno T, Hori H, Arima K, Saitoh O, Kunugi H.

    Variations in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) are associated with bipolar i disorder.
    Lohoff FW, Dahl JP, Ferraro TN, Arnold SE, Gallinat J, Sander T, Berrettini WH, Lohoff FW, Dahl JP, Ferraro TN, Arnold SE, Gallinat J, Sander T, Berrettini WH.

    03/13/2008
    Expression analysis confirmed that VMAT1 is expressed in human brain at the mRNA and protein level. Results suggest that variations in the VMAT1 gene may confer susceptibility to Bipolar Disorder in patients of European descent.

    Variations in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) are associated with bipolar i disorder.
    Lohoff FW, Dahl JP, Ferraro TN, Arnold SE, Gallinat J, Sander T, Berrettini WH, Lohoff FW, Dahl JP, Ferraro TN, Arnold SE, Gallinat J, Sander T, Berrettini WH., Free PMC Articles: PMC2507868, PMC2507868

    01/21/2010
    Greater expression of VMAT 1 in von Hippel-Lindau syndrome than multiple endocrine neoplasia type 2. Expression of VMAT 2 did not differ significantly.

    Different expression of catecholamine transporters in phaeochromocytomas from patients with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2.
    Huynh TT, Pacak K, Brouwers FM, Abu-Asab MS, Worrell RA, Walther MM, Elkahloun AG, Goldstein DS, Cleary S, Eisenhofer G., Free PMC Article

    01/21/2010
    VMAT1Delta15 is not localized in large, dense core vesicles as the native form but in the endoplasmic reticulum. While VMAT1 can take up serotonin, VMAT1Delta15 cannot, indicating different functions for the two forms of VMAT1.

    Identification and characterization of a novel splicing variant of vesicular monoamine transporter 1.
    Essand M, Vikman S, Grawé J, Gedda L, Hellberg C, Oberg K, Totterman TH, Giandomenico V.

    01/21/2010
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