HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC17A1
solute carrier family 17 member 1
Chromosome 6 · 6p22.2
NCBI Gene: 6568Ensembl: ENSG00000124568.13HGNC: HGNC:10929UniProt: Q14916
38PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingurate transportsodium-dependent phosphate transporturate metabolic processgouthepatocellular carcinomacolorectal adenocarcinomapulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
✦AI Summary

SLC17A1 (NPT1) is a sodium-dependent phosphate transporter primarily functioning in renal phosphate resorption via Na+ cotransport at the brush border membrane 1. Beyond phosphate, SLC17A1 mediates urate transport in the kidney and serves as a physiologic urine transporter for the lactate-derived metabolite N-lactoyl-phenylalanine (Lac-Phe), a satiety signal that suppresses food intake 2. SLC17A1 genetic variants significantly impact serum urate levels and disease susceptibility; loss-of-function mutations cause urate underexcretion, contributing to hyperuricemia and gout 3. Polymorphisms rs9467596 and rs2096386 correlate with hyperuricemia risk, particularly when combined with alcohol consumption 4. The p.W75C variant substantially impairs urate transport activity 5. SLC17A1 variants also associate with phthalate metabolite excretion 6 and altered cholesterol homeostasis and homocysteine levels in men 7. Recent linkage analysis identified SLC17A1 variants in familial type 1 diabetes in Kuwaiti populations, suggesting broader metabolic roles beyond urate handling 8. Together, SLC17A1 represents a multifunctional transporter with clinical significance for gout, cardiovascular risk, and potentially autoimmune disease pathogenesis.

Sources cited
1
SLC17A1 is important for phosphate resorption in kidney via Na+ cotransport at brush border membrane
PMID: 7826357
2
SLC17A1 is a physiologic urine Lac-Phe transporter; genetic ablation reduces urine Lac-Phe levels in mice
PMID: 39134528
3
Loss-of-function mutations in SLC17A1 cause urate underexcretion and contribute to hyperuricemia and gout
PMID: 27103454
4
SLC17A1 polymorphisms rs9467596 and rs2096386 associate with hyperuricemia risk, with interaction by alcohol drinking
PMID: 26663070
5
SLC17A1 p.W75C variant significantly impairs urate transport activity in functional assays
PMID: 38222853
6
SLC17A1 variants associate with phthalate metabolite excretion and are likely causal for MECPP/MEHHP excretion
PMID: 38150807
7
SLC17A1 polymorphisms associate with cholesterol homeostasis and homocysteine levels in Japanese men
PMID: 26524967
8
SLC17A1 variants identified in familial type 1 diabetes linkage analysis in Kuwaiti families
PMID: 37696853
Disease Associationsⓘ20
goutOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
colorectal adenocarcinomaOpen Targets
0.03Suggestive
pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9Open Targets
0.03Suggestive
myocardial infarctionOpen Targets
0.03Suggestive
HeadacheOpen Targets
0.03Suggestive
COVID-19Open Targets
0.02Suggestive
type 1 diabetes mellitusOpen Targets
0.02Suggestive
hyperuricemiaOpen Targets
0.02Suggestive
inflammatory bowel diseaseOpen Targets
0.02Suggestive
clear cell renal carcinomaOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
kidney oncocytomaOpen Targets
0.01Suggestive
chromophobe renal cell carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
cholangiocarcinomaOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PDZK1Protein interaction89%SLC2A9Protein interaction88%SLC18B1Protein interaction86%ABCG2Protein interaction80%SLC18A1Protein interaction80%SLC22A11Protein interaction75%
Tissue Expression6 tissues
Liver
100%
Ovary
0%
Bone Marrow
0%
Brain
0%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
SLC17A1PDZK1SLC2A9SLC18B1ABCG2SLC18A1SLC22A11
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q14916
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.23LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.75–1.23]
RankingsWhere SLC17A1 stands among ~20K protein-coding genes
  • #10,544of 20,598
    Most Researched38
  • #12,987of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedSLC17A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SLC17A1/3 transporters mediate renal excretion of Lac-Phe in mice and humans.
PMID: 39134528
Nat Commun · 2024
1.00
2
[Polymorphisms of SLC17A1 gene and their interaction with alcohol drinking among Uygur patients with hyperuricemia].
PMID: 26663070
Zhonghua Yi Xue Yi Chuan Xue Za Zhi · 2015
0.90
3
A genome-wide association study of 24-hour urinary excretion of endocrine disrupting chemicals.
PMID: 38150807
Environ Int · 2024
0.80
4
Examining the Association of Rare Allelic Variants in Urate Transporters
PMID: 38222853
Dis Markers · 2024
0.70
5
Genetic variants of SLC17A1 are associated with cholesterol homeostasis and hyperhomocysteinaemia in Japanese men.
PMID: 26524967
Sci Rep · 2015
0.60