SLC5A8
Solute Carrier Family 5 Member 8
Gene Information Card
| Symbol | SLC5A8 |
|---|---|
| Full Name | Solute Carrier Family 5 Member 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q23.1 |
| NCBI Gene ID | 160728 ncbi.nlm.nih.gov/gene/160728 |
| Ensembl ID | ENSG00000139679 |
| UniProt ID | Q8N695 |
| OMIM ID | 608044 |
| HGNC ID | 11013 |
| Aliases | SMCT1, AIT, SMCT, SLC5A8L |
Description
SLC5A8 encodes a sodium-coupled monocarboxylate transporter (SMCT1) that mediates electrogenic uptake of short-chain fatty acids, lactate, pyruvate, and iodide. It functions as a tumor suppressor in several epithelial cancers and is frequently silenced by promoter methylation. The gene is also involved in thyroid iodide transport and renal reabsorption of monocarboxylates.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Silencing of SLC5A8 by promoter hypermethylation leads to loss of tumor suppressor function, promoting cell proliferation and invasion. | PubMed, COSMIC |
| Thyroid Dysgenesis | Loss-of-function mutations impair iodide transport, contributing to congenital hypothyroidism. | OMIM, ClinVar |
| Gastric Cancer | Hypermethylation of SLC5A8 promoter correlates with reduced expression and poor prognosis. | PubMed, COSMIC |
| Renal Cell Carcinoma | Downregulation of SLC5A8 is associated with increased lactate export and metabolic reprogramming. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Small Intestine | 6.5 | Low |
| Colon | 4.2 | Low |
| Liver | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| Caco-2 | 9.8 | Moderate expression |
| HT-29 | 3.4 | Low expression |
| MCF7 | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.119C>T (p.Pro40Leu) | Missense | <0.01% | Loss of transport activity |
| c.382G>A (p.Gly128Arg) | Missense | <0.01% | Impaired iodide uptake |
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations (e.g., p.Pro40Leu, p.Arg349*) reduce or abolish monocarboxylate and iodide transport.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • symporter activity (GO:0015293) | • monocarboxylic acid transmembrane transporter activity (GO:0008028) |
| • iodide transmembrane transporter activity (GO:0015111) | • iodide transport (GO:0015888) |
| • monocarboxylic acid transport (GO:0015718) | • integral component of plasma membrane (GO:0005887) |
Pathways
• Transport of inorganic cations/anions and amino acids/oligopeptides (Reactome: R-HSA-425393)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
• Iodine metabolism (KEGG: hsa04918)
Protein Summary
SLC5A8 (SMCT1) is a 610-amino acid plasma membrane protein with 13 transmembrane domains. It functions as an electrogenic sodium-coupled transporter for monocarboxylates (e.g., butyrate, lactate, pyruvate) and iodide. The protein plays a critical role in thyroid hormone synthesis, renal reabsorption, and tumor suppression. Loss of expression via promoter methylation or mutation is common in multiple cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC5A8 Knockout HEK293 Cell Line | EDJ-KQ15280 | Human | 160728 | Details Get a Quote |
| SLC5A8 Knockout HeLa Cell Line | EDJ-KQ58816 | Human | 160728 | Details Get a Quote |
| SLC5A8 Knockout A-549 Cell Line | EDJ-KQ67300 | Human | 160728 | Details Get a Quote |
| SLC5A8 Knockout HCT 116 Cell Line | EDJ-KQ75700 | Human | 160728 | Details Get a Quote |
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