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    SLC5A7 solute carrier family 5 member 7 [ Homo sapiens (human) ]

    Gene ID: 60482, updated on 4-Jan-2025

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases.

    Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases.
    Muntadas JA, Hyland MR, Martínez MDRO, Young JN, Chong JX, Bamshad MJ, Maselli RA., Free PMC Article

    09/23/2024
    CircFBXW4 Suppresses Colorectal Cancer Progression by Regulating the MiR-338-5p/SLC5A7 Axis.

    CircFBXW4 Suppresses Colorectal Cancer Progression by Regulating the MiR-338-5p/SLC5A7 Axis.
    Song W, Fu J, Wu J, Ren J, Xiang R, Kong C, Fu T., Free PMC Article

    07/31/2024
    Genetic analysis of a family affected by congenital myasthenic syndrome due to a Novel mutation in the SLC5A7 gene.

    Genetic analysis of a family affected by congenital myasthenic syndrome due to a Novel mutation in the SLC5A7 gene.
    Tian S, Sun H, Gao FF, Zhang K, Nan J, Niu M, Jia X, Xu G, Ge W., Free PMC Article

    07/2/2024
    Targeted demethylation of the SLC5A7 promotor inhibits colorectal cancer progression.

    Targeted demethylation of the SLC5A7 promotor inhibits colorectal cancer progression.
    Li Y, Liu B, Yin X, Jiang Z, Fang C, Chen N, Zhang B, Dai L, Yin Y., Free PMC Article

    07/30/2022
    Choline-induced SLC5A7 impairs colorectal cancer growth by stabilizing p53 protein.

    Choline-induced SLC5A7 impairs colorectal cancer growth by stabilizing p53 protein.
    Yin Y, Jiang Z, Fu J, Li Y, Fang C, Yin X, Chen Y, Chen N, Li J, Ji Y, Su X, Qiu M, Huang W, Zhang B, Deng H, Dai L.

    01/8/2022
    Our observation regarding defective myelination in the recessive form of the SLC5A7-related disorder could suggest that pathogenicity of CHT1 variants is not limited strictly to the transport of choline but may also influence myelination with a combined functional effect.

    The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome.
    Banerjee M, Arutyunov D, Brandwein D, Janetzki-Flatt C, Kolski H, Hume S, Leonard NJ, Watt J, Lacson A, Baradi M, Leslie EM, Cordat E, Caluseriu O.

    03/14/2020
    Biallelic loss-of-function SLC5A7 variants cause congenital myasthenic syndrome, while a monoallelic truncatingvariant in the last exon of SLC5A7 was reported in 2 unrelated hereditary motor neuropathy 7 families from Wales

    Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales.
    Hamanaka K, Takahashi K, Miyatake S, Mitsuhashi S, Hamanoue H, Miyaji Y, Fukai R, Doi H, Fujita A, Imagawa E, Iwama K, Nakashima M, Mizuguchi T, Takata A, Miyake N, Takeuchi H, Tanaka F, Matsumoto N.

    11/16/2019
    SLC5A7 genotype significantly predicted respiratory sinus arrhythmia (RSA) stress responsivity (beta=-0.023; p=0.028) and heart rate (HR) stress responsivity (beta=0.004; p=0.002). T-allele carriers exhibited RSA suppression and HR acceleration in response to stress while G/G homozygotes did not suppress RSA and exhibited less HR acceleration.

    Polymorphic variation in the SLC5A7 gene influences infant autonomic reactivity and self-regulation: A neurobiological model for ANS stress responsivity and infant temperament.
    Jones CW, Gray SAO, Theall KP, Drury SS., Free PMC Article

    04/27/2019
    Lack of association between SLC5A7 polymorphisms and Tourette syndrome in a Chinese Han population

    Lack of association between SLC5A7 polymorphisms and Tourette syndrome in a Chinese Han population.
    Liu W, Qiu S, Gao C, Wang G, Liu S, Guan H.

    07/28/2018
    Here we describe an autosomal recessive presynaptic congenital myasthenic syndrome presenting with a broad clinical phenotype due to homozygous SLC5a7 missense mutations. Phenotype ranges from classical presentation of a congenital myasthenic syndrome in one patient (p.Pro210Leu), to severe neurodevelopmental delay with brain atrophy (p.Ser94Arg) and extend the clinical outcomes to infantile lethality (p.Val112Glu).

    Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
    Wang H, Salter CG, Refai O, Hardy H, Barwick KES, Akpulat U, Kvarnung M, Chioza BA, Harlalka G, Taylan F, Sejersen T, Wright J, Zimmerman HH, Karakaya M, Stüve B, Weis J, Schara U, Russell MA, Abdul-Rahman OA, Chilton J, Blakely RD, Baple EL, Cirak S, Crosby AH., Free PMC Article

    11/11/2017
    Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea: this study broadens the clinical spectrum of human diseases resulting from reduced CHT activity and highlights the complexity of cholinergic metabolism at the synapse

    Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
    Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S., Free PMC Article

    05/6/2017
    These data show that acute exposure of depolarized cells to insulin is coupled to transiently increased levels of CHT proteins at the cell surface, and that this is attenuated by chronic insulin exposure.

    Insulin Regulates the Activity of the High-Affinity Choline Transporter CHT.
    Fishwick KJ, Rylett RJ., Free PMC Article

    04/23/2016
    This study demonstrated a specific impairment in cognitive control associated with the Ile89Val polymorphism of SLC5A7.

    Disposed to distraction: genetic variation in the cholinergic system influences distractibility but not time-on-task effects.
    Berry AS, Demeter E, Sabhapathy S, English BA, Blakely RD, Sarter M, Lustig C., Free PMC Article

    04/4/2015
    [review] The critical role of CHT in maintaining cholinergic transmission indicates that it could be a target for therapeutic intervention to promote acetylcholine synthesis, the accomplishment of which has not been adequately addressed.

    Choline transporter CHT regulation and function in cholinergic neurons.
    Black SA, Rylett RJ.

    06/15/2013
    This mini-review discusses structural requirements for both organic cationic transporters OCT1 and OCT2 versus the blood-brain barrier choline transporter (BBBCHT) are discussed and compared.

    The blood-brain barrier choline transporter.
    Geldenhuys WJ, Allen DD.

    06/15/2013
    In transgenic animals with a heterozygous deletion of the choline transporter there is impairment in performing sustained attention tasks.

    The presynaptic choline transporter imposes limits on sustained cortical acetylcholine release and attention.
    Parikh V, St Peters M, Blakely RD, Sarter M., Free PMC Article

    04/6/2013
    Our findings compel consideration of mutations in SLC5A7 or its functional partners in relation to unexplained motor neuronopathies.

    Defective presynaptic choline transport underlies hereditary motor neuropathy.
    Barwick KE, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, Ruggiero AM, Blakely RD, Hurles ME, Crosby AH., Free PMC Article

    02/16/2013
    CHT1 forms a homo-oligomer on the cell surface in cultured cells.

    Transmembrane topology and oligomeric structure of the high-affinity choline transporter.
    Okuda T, Osawa C, Yamada H, Hayashi K, Nishikawa S, Ushio T, Kubo Y, Satou M, Ogawa H, Haga T., Free PMC Article

    02/16/2013
    Polymorphic variation in the CHT1 gene can predict early, subclinical measures of carotid atherosclerosis.

    Polymorphic variation in choline transporter gene (CHT1) is associated with early, subclinical measures of carotid atherosclerosis in humans.
    Neumann SA, Linder KJ, Muldoon MF, Sutton-Tyrrell K, Kline C, Shrader CJ, Lawrence EC, Ferrell RE, Manuck SB., Free PMC Article

    06/23/2012
    Nedd4-2 mediated ubiquitination regulates the cell surface expression of CHT1 in HEK293 cells.

    The high-affinity choline transporter CHT1 is regulated by the ubiquitin ligase Nedd4-2.
    Yamada H, Imajoh-Ohmi S, Haga T.

    06/23/2012
    overexpressed ChAT enhanced transcription of the CHT1 gene but not the VACHT gene

    Nuclear choline acetyltransferase activates transcription of a high-affinity choline transporter.
    Matsuo A, Bellier JP, Nishimura M, Yasuhara O, Saito N, Kimura H., Free PMC Article

    04/16/2011
    The colocalisation of CHT1 immunoreactivity with VAChT immunoreactivity in cholinergic enteric nerves in the human bowel thus suggests that CHT1 represents another marker of cholinergic nerves.

    Immunoreactivity for high-affinity choline transporter colocalises with VAChT in human enteric nervous system.
    Harrington AM, Lee M, Ong SY, Yong E, Farmer P, Peck CJ, Chow CW, Hutson JM, Southwell BR.

    10/4/2010
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    Human choline transporter gene variation is associated with corticolimbic reactivity and autonomic-cholinergic function.
    Neumann SA, Brown SM, Ferrell RE, Flory JD, Manuck SB, Hariri AR, Neumann SA, Brown SM, Ferrell RE, Flory JD, Manuck SB, Hariri AR.

    Heart rate variability is associated with polymorphic variation in the choline transporter gene.
    Neumann SA, Lawrence EC, Jennings JR, Ferrell RE, Manuck SB.

    03/13/2008
    CHT1 variation is related to differences in a distributed corticolimbic circuitry mediating behavioral and physiologic arousal.

    Human choline transporter gene variation is associated with corticolimbic reactivity and autonomic-cholinergic function.
    Neumann SA, Brown SM, Ferrell RE, Flory JD, Manuck SB, Hariri AR, Neumann SA, Brown SM, Ferrell RE, Flory JD, Manuck SB, Hariri AR.

    01/21/2010
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