SLC17A1: Sodium-Dependent Phosphate Transporter 1
Key regulator of renal phosphate reabsorption and urate transport
Gene Information Card
| Symbol | SLC17A1 |
|---|---|
| Full Name | Solute carrier family 17 member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 6568 ncbi.nlm.nih.gov/gene/6568 |
| Ensembl ID | ENSG00000124568 |
| UniProt ID | Q14916 |
| OMIM ID | 182308 |
| HGNC ID | 10993 |
| Aliases | NPT1, NAPI-1, NAPI-1A, NPT-1 |
Description
SLC17A1 encodes a sodium-dependent phosphate transporter (NPT1) primarily expressed in the kidney proximal tubule. It mediates the reabsorption of inorganic phosphate from the glomerular filtrate and also transports organic anions such as urate. Variants in SLC17A1 are associated with altered serum urate levels, gout, and nephrolithiasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gout | Impaired urate transport due to reduced SLC17A1 function leads to hyperuricemia | ClinVar, OMIM |
| Nephrolithiasis (kidney stones) | Altered phosphate and urate handling promotes stone formation | ClinVar, PubMed |
| Hypophosphatemia | Loss-of-function variants reduce renal phosphate reabsorption | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Liver | 1.2 | Low |
| Small intestine | 0.8 | Low |
| Lung | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.7 | High expression in transfected cells |
| HepG2 | 0.5 | Low endogenous expression |
| HK-2 (kidney proximal tubule) | 15.2 | High endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1165196 (p.Val257Ile) | Missense | 30% (global) | Reduced urate transport activity |
| rs11722228 (p.Thr269Ile) | Missense | 12% (East Asian) | Associated with hyperuricemia |
| c.1246G>A (p.Gly416Arg) | Missense | <1% | Loss of phosphate transport |
Mutation functional classification
Loss of Function (LOF)
p.Gly416Arg reduces phosphate uptake by >80% in vitro.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not described for SLC17A1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Renal phosphate reabsorption (Reactome: R-HSA-427589)
• Urate transport (Reactome: R-HSA-5619100)
Protein Summary
The SLC17A1 protein (NPT1) is a 467-amino acid multi-pass transmembrane protein localized to the apical membrane of renal proximal tubule cells. It functions as a sodium-phosphate symporter and also mediates electrogenic urate transport. The protein contains 12 transmembrane domains and is essential for maintaining phosphate homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC17A1 Knockout HEK293 Cell Line | EDJ-KQ5787 | Human | 6568 | Details Get a Quote |
| SLC17A1 Knockout HeLa Cell Line | EDJ-KQ54512 | Human | 6568 | Details Get a Quote |
| SLC17A1 Knockout A-549 Cell Line | EDJ-KQ62997 | Human | 6568 | Details Get a Quote |
| SLC17A1 Knockout HCT 116 Cell Line | EDJ-KQ71467 | Human | 6568 | Details Get a Quote |
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