SLC23A1: Sodium-Dependent Vitamin C Transporter 1 (SVCT1)
Key regulator of ascorbic acid homeostasis and antioxidant defense
Gene Information Card
| Symbol | SLC23A1 |
|---|---|
| Full Name | Solute Carrier Family 23 Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 9963 ncbi.nlm.nih.gov/gene/9963 |
| Ensembl ID | ENSG00000113580 |
| UniProt ID | Q9UHI7 |
| OMIM ID | 603790 |
| HGNC ID | 10973 |
| Aliases | SVCT1, YSPL3, SLC23A1 |
Description
SLC23A1 encodes the sodium-dependent vitamin C transporter 1 (SVCT1), a high-affinity transporter for L-ascorbic acid (vitamin C). SVCT1 mediates the active uptake of ascorbate across the plasma membrane, primarily in epithelial tissues such as intestine and kidney, playing a critical role in whole-body vitamin C homeostasis and antioxidant protection.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Vitamin C deficiency (scurvy) | Impaired intestinal absorption and renal reabsorption of ascorbate due to SLC23A1 loss-of-function variants | ClinVar, OMIM |
| Hypovitaminosis C | Reduced SVCT1 activity leads to low plasma ascorbate levels | ClinVar |
| Renal ascorbate wasting | Defective renal reabsorption of vitamin C via SVCT1 mutations | OMIM #603790 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 22.5 | High |
| Kidney | 18.3 | High |
| Liver | 6.1 | Medium |
| Colon | 4.8 | Medium |
| Prostate | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon adenocarcinoma) | 15.2 | Intestinal epithelial model |
| HepG2 (hepatocellular carcinoma) | 8.7 | Hepatic expression |
| HEK293 (embryonic kidney) | 12.4 | Renal expression model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.119G>A (p.Arg40His) | missense | <0.01% | Reduced ascorbate transport activity |
| c.344C>T (p.Thr115Ile) | missense | <0.01% | Impaired membrane localization |
| c.563G>A (p.Arg188Gln) | missense | <0.01% | Decreased Vmax for ascorbate |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg40His, p.Thr115Ile) reduce ascorbate transport capacity and membrane expression.
Gain of Function (GOF)
No gain-of-function mutations reported in SLC23A1.
Dominant Negative (DN)
No dominant-negative effects documented; SLC23A1 functions as a monomer.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005315 – inorganic phosphate transmembrane transporter activity | • GO:0015238 – L-ascorbic acid transmembrane transporter activity |
| • GO:0015882 – L-ascorbic acid transport | • GO:0055085 – transmembrane transport |
| • GO:0016021 – integral component of membrane |
Pathways
• Vitamin C (ascorbate) metabolism
• Transport of inorganic cations/anions and amino acids/oligopeptides
Protein Summary
SVCT1 is a 604-amino acid transmembrane protein with 12 putative membrane-spanning domains. It functions as a high-affinity, sodium-coupled symporter for L-ascorbic acid, with a Km of approximately 65 µM. The protein is predominantly expressed on the apical membrane of intestinal and renal epithelial cells, mediating dietary vitamin C absorption and renal reabsorption. SVCT1 activity is essential for maintaining plasma ascorbate levels and protecting against oxidative stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC23A1 Knockout HEK293 Cell Line | EDJ-KQ6842 | Human | 9963 | Details Get a Quote |
| SLC23A1 Knockout A-549 Cell Line | EDJ-KQ31393 | Human | 9963 | Details Get a Quote |
| SLC23A1 Knockout HeLa Cell Line | EDJ-KQ55287 | Human | 9963 | Details Get a Quote |
| SLC23A1 Knockout HCT 116 Cell Line | EDJ-KQ72228 | Human | 9963 | Details Get a Quote |
| SLC23A1 Knockout Huh-7 Cell Line | EDC07846 | Human | 2810 | Details Get a Quote |
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