SLC17A3: Solute Carrier Family 17 Member 3
Sodium-dependent phosphate transporter 3 (NPT4) – role in urate transport and gout susceptibility
Gene Information Card
| Symbol | SLC17A3 |
|---|---|
| Full Name | Solute carrier family 17 member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 10786 ncbi.nlm.nih.gov/gene/10786 |
| Ensembl ID | ENSG00000124564 |
| UniProt ID | O00476 |
| OMIM ID | 611034 |
| HGNC ID | 10999 |
| Aliases | NPT4, UAQTL2 |
Description
SLC17A3 encodes sodium-dependent phosphate transporter 3 (NPT4), a transmembrane protein involved in renal phosphate reabsorption and urate transport. It is expressed primarily in the kidney and liver, and genetic variants are associated with serum urate levels and gout.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gout | Loss-of-function variants reduce urate excretion, leading to hyperuricemia | PMID: 22156575, ClinVar |
| Hyperuricemia | Impaired urate transport due to altered NPT4 activity | OMIM 611034 |
| Renal phosphate wasting | Defective phosphate reabsorption in proximal tubule | UniProt O00476 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Small intestine | 3.1 | Low |
| Testis | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in transfected cells |
| HepG2 | 6.8 | Endogenous expression |
| HK-2 | 9.4 | Proximal tubule cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124G>A (p.Gly42Arg) | Missense | <0.01% | Reduced urate transport activity |
| c.335C>T (p.Thr112Met) | Missense | 0.02% | Impaired phosphate uptake |
| c.1072C>T (p.Arg358Trp) | Missense | <0.01% | Loss of function, associated with gout |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Gly42Arg, p.Arg358Trp) reduce urate and phosphate transport.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Urate transport in kidney (Reactome: R-HSA-427975)
• Phosphate homeostasis (KEGG: hsa04976)
Protein Summary
NPT4 is a 467-amino acid multi-pass membrane protein localized to the apical membrane of renal proximal tubule cells. It mediates electrogenic sodium-dependent phosphate and urate transport, playing a key role in urate excretion and phosphate homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC17A3 Knockout HEK293 Cell Line | EDJ-KQ7165 | Human | 10786 | Details Get a Quote |
| SLC17A3 Knockout A-549 Cell Line | EDJ-KQ32082 | Human | 10786 | Details Get a Quote |
| SLC17A3 Knockout HeLa Cell Line | EDJ-KQ55483 | Human | 10786 | Details Get a Quote |
| SLC17A3 Knockout HCT 116 Cell Line | EDJ-KQ72426 | Human | 10786 | Details Get a Quote |
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