SLC23A3: Solute Carrier Family 23 Member 3
A sodium-coupled ascorbate transporter with potential roles in vitamin C homeostasis and cellular antioxidant defense.
Gene Information Card
| Symbol | SLC23A3 |
|---|---|
| Full Name | Solute Carrier Family 23 Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 151295 ncbi.nlm.nih.gov/gene/151295 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q9H6X4 |
| OMIM ID | 608765 |
| HGNC ID | 20687 |
| Aliases | SVCT3, Yspl, FLJ31168 |
Description
SLC23A3 (Solute Carrier Family 23 Member 3) encodes a sodium-coupled ascorbate transporter, also known as SVCT3. This protein is a member of the SLC23 family of nucleobase/ascorbate transporters. Unlike SLC23A1 and SLC23A2, SLC23A3 has a lower affinity for ascorbate and may function in intracellular ascorbate transport or in transporting other organic anions. The gene is located on chromosome 2q35 and is expressed in multiple tissues, including kidney, liver, and placenta. Its precise physiological role remains under investigation, but it is implicated in vitamin C homeostasis and cellular antioxidant defense.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Vitamin C deficiency (scurvy) | Potential role in ascorbate transport; altered SLC23A3 function may impair tissue vitamin C uptake. | Limited; inferred from transporter function and expression in kidney. |
| Renal disorders | Expression in kidney suggests involvement in renal ascorbate reabsorption. | Hypothetical; based on tissue expression data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 3.2 | Low |
| Liver | 2.8 | Low |
| Placenta | 2.5 | Low |
| Small intestine | 1.9 | Low |
| Brain | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.2 | Low expression |
| HepG2 | 0.9 | Low expression |
| Caco-2 | 0.7 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown; predicted possibly damaging by in silico tools. |
| c.215G>A (p.Gly72Asp) | Missense | <0.01% | Unknown; predicted benign. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data:
Gene Ontology (GO)
| • sodium-dependent ascorbate transmembrane transporter activity (GO:0015238) | • L-ascorbic acid transport (GO:0015882) |
| • integral component of plasma membrane (GO:0005887) | • transmembrane transport (GO:0055085) |
Pathways
• Vitamin C (ascorbate) metabolism
• SLC-mediated transmembrane transport
Protein Summary
The SLC23A3 protein (UniProt Q9H6X4) is a 598-amino acid multi-pass membrane protein with 12 predicted transmembrane domains. It functions as a sodium-coupled ascorbate transporter (SVCT3) with low affinity for L-ascorbic acid. The protein is localized to the plasma membrane and may also transport other organic anions. Its expression is highest in kidney, liver, and placenta, suggesting a role in systemic ascorbate homeostasis. Structural studies indicate that it belongs to the nucleobase-ascorbate transporter (NAT) family.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC23A3 Knockout HEK293 Cell Line | EDJ-KQ3574 | Human | 151295 | Details Get a Quote |
| SLC23A3 Knockout HCT 116 Cell Line | EDJ-KQ25455 | Human | 151295 | Details Get a Quote |
| SLC23A3 Knockout HeLa Cell Line | EDJ-KQ25456 | Human | 151295 | Details Get a Quote |
| SLC23A3 Knockout A-549 Cell Line | EDJ-KQ67168 | Human | 151295 | Details Get a Quote |
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