SLC28A1: Solute Carrier Family 28 Member 1
Concentrative Nucleoside Transporter 1 (CNT1) – Key Role in Nucleoside Transport and Drug Pharmacokinetics
Gene Information Card
| Symbol | SLC28A1 |
|---|---|
| Full Name | Solute Carrier Family 28 Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q25.3 |
| NCBI Gene ID | 9154 ncbi.nlm.nih.gov/gene/9154 |
| Ensembl ID | ENSG00000156222 |
| UniProt ID | O00337 |
| OMIM ID | 606207 |
| HGNC ID | 11000 |
| Aliases | CNT1, HCNT1, MGC138228 |
Description
SLC28A1 encodes the concentrative nucleoside transporter 1 (CNT1), a sodium-coupled transporter that mediates the cellular uptake of pyrimidine nucleosides (e.g., uridine, cytidine) and nucleoside analog drugs (e.g., gemcitabine, 5-fluorouridine). CNT1 is expressed primarily in epithelial tissues and plays a critical role in nucleoside salvage and drug pharmacokinetics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gemcitabine toxicity | Reduced CNT1 function decreases drug uptake, leading to altered chemosensitivity | PMID: 15657133 |
| Nucleoside analog resistance | Loss of SLC28A1 expression correlates with resistance to pyrimidine nucleoside analogs | PMID: 19074856 |
| Inflammatory bowel disease | Polymorphisms in SLC28A1 associated with altered thiopurine response | PMID: 21525837 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Small intestine | 15.1 | High |
| Colon | 9.7 | Medium |
| Pancreas | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.4 | Hepatocellular carcinoma line |
| Caco-2 | 18.2 | Colorectal adenocarcinoma line |
| MCF7 | 2.1 | Breast cancer line |
| A549 | 1.5 | Lung carcinoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.565C>T (p.Arg189Trp) | Missense | 0.02% (gnomAD) | Reduced transport activity for gemcitabine |
| c.1022G>A (p.Arg341Gln) | Missense | 0.01% (gnomAD) | Altered substrate specificity |
| c.1286G>A (p.Arg429His) | Missense | 0.005% (gnomAD) | Decreased cell surface expression |
Mutation functional classification
Loss of Function (LOF)
p.Arg189Trp and p.Arg429His reduce or abolish nucleoside transport activity.
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)
| • nucleoside:sodium symporter activity (GO:0005415) | • nucleoside transport (GO:0015858) |
| • uridine transport (GO:0015882) | • cytidine transport (GO:0015883) |
| • integral component of membrane (GO:0016021) |
Pathways
• Nucleoside salvage pathway (R-HSA-73621)
• Transport of nucleosides and free purine and pyrimidine bases (R-HSA-73614)
• Gemcitabine pathway (pharmacokinetics)
Protein Summary
CNT1 is a 650-amino acid transmembrane protein with 13 predicted helices. It functions as a sodium-nucleoside symporter, utilizing the inward sodium gradient to drive concentrative uptake of pyrimidine nucleosides. The protein is localized to the apical membrane of polarized epithelial cells in kidney, intestine, and liver. CNT1 is a key determinant of the pharmacokinetics and efficacy of nucleoside analog drugs used in cancer and antiviral therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC28A1 Knockout HEK293 Cell Line | EDJ-KQ6479 | Human | 9154 | Details Get a Quote |
| SLC28A1 Knockout HeLa Cell Line | EDJ-KQ55094 | Human | 9154 | Details Get a Quote |
| SLC28A1 Knockout A-549 Cell Line | EDJ-KQ63574 | Human | 9154 | Details Get a Quote |
| SLC28A1 Knockout HCT 116 Cell Line | EDJ-KQ72040 | Human | 9154 | Details Get a Quote |
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