SLC17A1

Chr 6

solute carrier family 17 member 1

Also known as: NAPI-1, NPT-1, NPT1

NCBI Gene: 6568ENSG00000124568UniProt: Q14916

Predicted to enable transmembrane transporter activity. Involved in sodium-dependent phosphate transport; urate metabolic process; and urate transport. Located in apical plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.37
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.37LOEUF
pLI 0.000
Z-score 0.11
OE 0.98 (0.71–1.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.42Z-score
OE missense 0.93 (0.83–1.03)
235 obs / 253.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.98 (0.71–1.37)
0≤0.351.4
Missense OE?0.93 (0.83–1.03)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 24 / 24.6Missense obs/exp: 235 / 253.7Syn Z: 0.72

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC17A1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients