SLC5A7: Choline Transporter, High-Affinity
Solute Carrier Family 5 Member 7 – Key Regulator of Cholinergic Neurotransmission
Gene Information Card
| Symbol | SLC5A7 |
|---|---|
| Full Name | Solute Carrier Family 5 Member 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q12.3 |
| NCBI Gene ID | 60482 ncbi.nlm.nih.gov/gene/60482 |
| Ensembl ID | ENSG00000115665 |
| UniProt ID | Q9GZV3 |
| OMIM ID | 608761 |
| HGNC ID | 14025 |
| Aliases | CHT, CHT1, hCHT, MGC126852 |
Description
SLC5A7 encodes the high-affinity choline transporter 1 (CHT1), a sodium- and chloride-dependent transmembrane protein that mediates the rate-limiting step in acetylcholine synthesis: the reuptake of choline into presynaptic cholinergic neurons. CHT1 is predominantly expressed in the central and peripheral nervous systems and is critical for cholinergic neurotransmission. Mutations in SLC5A7 are associated with presynaptic congenital myasthenic syndrome and distal hereditary motor neuronopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital Myasthenic Syndrome 20 (CMS20) | Loss-of-function mutations impair choline reuptake, reducing acetylcholine synthesis and causing neuromuscular junction dysfunction. | ClinVar, OMIM #617143 |
| Distal Spinal Muscular Atrophy, Autosomal Recessive (DSMA3) | Biallelic mutations lead to progressive motor neuron degeneration due to cholinergic deficit. | OMIM #617184 |
| Amyotrophic Lateral Sclerosis (ALS) susceptibility | Rare variants may contribute to motor neuron vulnerability, though evidence is limited. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spinal cord | 12.5 | High |
| Brain (cerebellum) | 8.2 | Medium |
| Brain (cortex) | 7.1 | Medium |
| Placenta | 0.3 | Low |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression; used for cholinergic studies |
| SK-N-SH (neuroblastoma) | 9.8 | Moderate expression |
| HEK293 (embryonic kidney) | 0.2 | Low/background |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1493G>A (p.Arg498His) | Missense | Rare | Impaired choline transport; associated with CMS20 |
| c.914T>C (p.Leu305Pro) | Missense | Rare | Reduced cell surface expression; CMS20 |
| c.1072C>T (p.Arg358*) | Nonsense | Rare | Premature truncation; loss of function; DSMA3 |
| c.1513C>T (p.Arg505Cys) | Missense | Rare | Dominant negative effect; CMS20 |
Mutation functional classification
Loss of Function (LOF)
Most CMS20 and DSMA3 mutations reduce choline transport activity or protein stability, leading to decreased acetylcholine synthesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SLC5A7.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg505Cys) exert dominant-negative effects by interfering with oligomerization or trafficking of wild-type CHT1.
View complete mutation data：
Gene Ontology (GO)
| • extracellular ligand-gated ion channel activity (GO:0005230) | • high-affinity choline transmembrane transporter activity (GO:0005326) |
| • choline transport (GO:0015871) | • plasma membrane (GO:0005886) |
| • axon (GO:0030424) | • synapse (GO:0045202) |
Pathways
• Acetylcholine synthesis (Reactome: R-HSA-264642)
• Neurotransmitter uptake and metabolism (KEGG: hsa04724)
• Cholinergic synapse (KEGG: hsa04725)
Protein Summary
The SLC5A7 protein (CHT1) is a 580-amino-acid transmembrane transporter with 13 predicted transmembrane domains. It functions as a homooligomer and is localized to presynaptic cholinergic nerve terminals. CHT1 couples choline import to the sodium and chloride electrochemical gradients. Its expression is tightly regulated by cholinergic activity and is essential for sustaining acetylcholine release. Structural studies reveal a LeuT-fold architecture typical of the SLC5 family.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC5A7 Knockout HEK293 Cell Line | EDJ-KQ3767 | Human | 60482 | Details Get a Quote |
| SLC5A7 Knockout HeLa Cell Line | EDJ-KQ56978 | Human | 60482 | Details Get a Quote |
| SLC5A7 Knockout A-549 Cell Line | EDJ-KQ65480 | Human | 60482 | Details Get a Quote |
| SLC5A7 Knockout HCT 116 Cell Line | EDJ-KQ73919 | Human | 60482 | Details Get a Quote |
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