SLC5A7 Membrane Protein Introduction

Introduction of SLC5A7

SLC5A7 is encoded by SLC5A7 gene. It belongs to the solute carrier family 5 which has been extensively studied during the past few decades because it offers numerous possibilities for therapeutic applications. It is related to the uptake of choline into cholinergic nerve terminals where it is acetylated by choline acetyltransferase (ChAT) to form the neurotransmitter acetylcholine. The transporter protein is shown to exhibit high-affinity, sodium-dependent choline uptake which could be inhibited by hemicholinium-3 (HC-3). Meanwhile, many studies conducted on SLC5A7 show that its variants are related to the myasthenic syndrome and neuronopathy.

Function of SLC5A7 Membrane Protein

SLC5A7, also named as choline transporter 1 (CHT1), is expressed in various tissues, such as adrenal, brain, liver, lung, kidney and heart. It is a critical determinant of signaling by the neurotransmitter acetylcholine at both central and peripheral cholinergic synapses, including the neuromuscular junction. Recent studies have indicated that CHT density in the synaptic plasma membrane is the primary variable determining the capacity of cholinergic neurotransmission. In addition, some studies conducted on SLC5A7 indicate that its deficient is associated with many disorders, including attention-deficit disorder, depression, and schizophrenia.

Fig.1 Cellular uptake and metabolism of ¹¹C-CHO and ¹⁸F-FCHO. (Sharma, 2013)

Application of SLC5A7 Membrane Protein in Literature

1. Jones C.W., et al. Polymorphic variation in the SLC5A7 gene influences infant autonomic reactivity and self-regulation: A neurobiological model for ANS stress responsivity and infant temperament. Psychoneuroendocrinology. 2018, 97: 28-36. PubMed ID: 30005279
   
   

   This article examines the association between the SLC5A7 variants on autonomic nervous system (ANS) reactivity indexed by respiratory sinus arrhythmia (RSA) and heart rate (HR) in infants. The results suggest that there are differences between SLC5A7 genotype and RSA or HR in white infants, but not in black infants.

2. Wright G.E.B., et al. Pharmacogenomics of vincristine-induced peripheral neuropathy implicates pharmacokinetic and inherited neuropathy genes. Clin Pharmacol Ther. 2018. PubMed ID: 29999516
   
   

   This article analyzes the relationship between recently-identified risk variants include SLC5A7 variants, CEP72 rs924607, and ADME gene variants and acute lymphoblastic leukemia (ALL). The results suggest SLC5A7 rs1013940, CEP72 rs924607, and ABCC1 rs3784867 are strongly related to vincristine transport or inherited neuropathies.

3. Salter C.G., et al. Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies. Neurol Genet. 2018, 4(2): e222. PubMed ID: 29582019
   
   

   Authors in this group conduct a next-generation sequencing to examine genes associated with neuropathy. These results indicate that SLC5A7 mutations can result in the truncation of the CHT C-terminus.

4. Liu W., et al. Lack of association between SLC5A7 polymorphisms and Tourette syndrome in a Chinese Han population. Neurosci Lett. 2017, 658: 161-164. PubMed ID: 28830823
   
   

   This article examines the association between the SLC5A7 variants and Tourette syndrome (TS) in Chinese Han population. The results suggest no association is found between SLC5A7 SNPs and TS.

5. Choudhary P., et al. Discovery of compounds that positively modulate the high-affinity choline transporter. Front Mol Neurosci. 2017, 10: 40. PubMed ID: 28289374
   
   

   This article reveals the positive and negative modulation of choline transporters by using screening techniques. The data demonstrate that a number of novel molecules could be used as tools to further explore CHT biology.

SLC5A7 Preparation Options

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Reference

1. Sharma A, et al. (2013). Overview of PET tracers for brain tumor imaging. PET Clin. 8(2), 129-46.

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