Recombinant Human High affinity choline transporter 1 (SLC5A7), partial

1. Lack of association between SLC5A7 polymorphisms and Tourette syndrome in a Chinese Han population PMID: 28830823
2. 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). PMID: 29088354
3. 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 PMID: 27569547
4. 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. PMID: 26161852
5. This study demonstrated a specific impairment in cognitive control associated with the Ile89Val polymorphism of SLC5A7. PMID: 24666128
6. 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. PMID: 22483271
7. [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. PMID: 22483273
8. In transgenic animals with a heterozygous deletion of the choline transporter there is impairment in performing sustained attention tasks. PMID: 23392663
9. CHT1 forms a homo-oligomer on the cell surface in cultured cells. PMID: 23132865
10. Our findings compel consideration of mutations in SLC5A7 or its functional partners in relation to unexplained motor neuronopathies. PMID: 23141292
11. Polymorphic variation in the CHT1 gene can predict early, subclinical measures of carotid atherosclerosis. PMID: 21337021
12. Nedd4-2 mediated ubiquitination regulates the cell surface expression of CHT1 in HEK293 cells. PMID: 22361880
13. overexpressed ChAT enhanced transcription of the CHT1 gene but not the VACHT gene PMID: 21163949
14. 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. PMID: 20490865
15. Results describe the identification and functional characterization of a single nucleotide polymorphism in the high affinity choline transporter (CHT1) gene. PMID: 12237312
16. high-affinity choline transporter, choline transporter 1, in nerve fibers and epithelial cells in the human and rat skin supporting the pivotal role of this transporter in both the neuronal and non-neuronal cholinergic system of the skin. PMID: 12406342
17. CHT1 binds to Par-4 and inhibits choline uptake when its incorporation is reduced on the cell surface PMID: 15090548
18. CHT1 variation is related to differences in a distributed corticolimbic circuitry mediating behavioral and physiologic arousal. PMID: 16876130
19. The charge/choline ratio of hCHT varies from 10e/choline at -80 mV to 3e/choline at -20 mV. Choline uptake & choline-induced current are Na+ & Cl- dependent. External protons reduce hCHT current, transport, & binding with a similar pKa of 7.4. PMID: 17005849

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HGNC: 14025

OMIM: 158580

KEGG: hsa:60482

STRING: 9606.ENSP00000264047

UniGene: Hs.287758