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.

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 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
Displaying Records 1 To 4 Of 4 Records
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