SLC5A7 - solute carrier family 5 member 7 (human)
Gene
Symbol
Taxonomy
Dates
- Create:2016-09-14
- Modify:2025-01-18
Description
This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
Enables choline:sodium symporter activity. Involved in acetylcholine biosynthetic process and choline transport. Located in cytoplasmic vesicle membrane; neuromuscular junction; and presynaptic membrane. Implicated in autosomal dominant distal hereditary motor neuronopathy 7; congenital myasthenic syndrome 20; and depressive disorder. Biomarker of major depressive disorder.
- CHT
- CHT1
- CMS20
- DHMNVP
- HMN7A
- HMND7
- hCHT1
- high affinity choline transporter 1
- Motor neuronopathy, distal hereditary, type VIIA
- Motor neuronopathy, distal hereditary, with vocal cord paresis
- high affinity choline transporter; hemicholinium-3-sensitive choline transporter
- solute carrier family 5 (sodium/choline cotransporter), member 7
High-affinity Na(+)-coupled choline transmembrane symporter (PMID: 11027560, PMID: 11068039, PMID: 12237312, PMID: 12969261, PMID: 17005849, PMID: 23132865, PMID: 23141292, PMID: 27569547). Functions as an electrogenic, voltage-dependent transporter with variable charge/choline stoichiometry (PMID: 17005849). Choline uptake and choline-induced current is also Cl(-)-dependent where Cl(-) is likely a regulatory ion rather than cotransported ion (PMID: 11068039, PMID: 12237312, PMID: 17005849). Plays a critical role in acetylcholine (ACh) synthesis by taking up the substrate choline from the synaptic cleft into the presynaptic nerve terminals after neurotransmitter release (PMID: 27569547). SLC5A7/CHT1-mediated choline high-affinity transport in cholinergic neurons is the rate-limiting step for production of ACh, thereby facilitating communication by subsequent action potentials (PMID: 11027560). Localized predominantly in presynaptic terminal intracellular organelles, and translocated to the plasma membrane in active form in response to neuronal activity (PMID: 12969261, PMID: 15953352).
Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605
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