SULT1A1

Chr 16

sulfotransferase family 1A member 1

Also known as: HAST1/HAST2, P-PST, P-PST 1, PST, ST1A1, ST1A3, STP, STP1

NCBI Gene: 6817ENSG00000196502UniProt: P50225

Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Multiple alternatively spliced variants that encode two isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

176
ClinVar variants
71
Pathogenic / LP
0.00
pLI score
1
Active trials
Clinical Summary— SULT1A1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
71 Pathogenic / Likely Pathogenic· 81 VUS of 176 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.54LOEUF
pLI 0.000
Z-score -0.07
OE 1.02 (0.69–1.54)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-1.19Z-score
OE missense 1.25 (1.12–1.40)
219 obs / 174.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.02 (0.69–1.54)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.25 (1.12–1.40)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.52
0≤1.21.6
LoF obs/exp: 16 / 15.7Missense obs/exp: 219 / 174.7Syn Z: -3.39

ClinVar Variant Classifications

176 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic67
Likely Pathogenic4
VUS81
Likely Benign3
Benign1
Conflicting1
67
Pathogenic
4
Likely Pathogenic
81
VUS
3
Likely Benign
1
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
67
0
67
Likely Pathogenic
0
0
4
0
4
VUS
0
56
25
0
81
Likely Benign
0
1
0
2
3
Benign
0
0
1
0
1
Conflicting
—1
Total057972157

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SULT1A1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
SULT1A1 Arg213His polymorphism, smoked meat, and breast cancer risk: a case-control study and meta-analysis.
Lee H et al.·DNA Cell Biol
2012Meta-analysis
Association between SULT1A1 Arg213His (rs9282861) Polymorphism and Risk of Breast Cancer: A Systematic Review and Meta-Analysis.
Forat-Yazdi M et al.·J Res Health Sci
2017Meta-analysis
ADME pharmacogenetics: future outlook for Russia.
Mirzaev KB et al.·Pharmacogenomics
2019
Polymorphic drug metabolism in anaesthesia.
Restrepo JG et al.·Curr Drug Metab
2009Review
Genetic polymorphisms of 3'-untranslated region of SULT1A1 and their impact on tamoxifen metabolism and efficacy.
Sanchez-Spitman AB et al.·Breast Cancer Res Treat
2018
Pharmacogenetics in breast cancer therapy.
Tan SH et al.·Clin Cancer Res
2008Review
Effects of CYP2D6 and SULT1A1 genotypes including SULT1A1 gene copy number on tamoxifen metabolism.
Gjerde J et al.·Ann Oncol
2008
A comprehensive Thai pharmacogenomics database (TPGxD-1): Phenotype prediction and variants identification in 942 whole-genome sequencing data.
John S et al.·Clin Transl Sci
2024
Relationship of SULT1A1 copy number variation with estrogen metabolism and human health.
Liu J et al.·J Steroid Biochem Mol Biol
2017
Phenotype-genotype relationships of SULT1A1 in human liver and variations in the IC50 of the SULT1A1 inhibitor quercetin.
Rossi AM et al.·Int J Clin Pharmacol Ther
2004
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Nobiletin alleviates alcoholic fatty liver disease by regulating lipid metabolism and oxidative stress via Ephx1 and Sult1a1.
Zhu H et al.·Phytomedicine
2026
The molecular key in exercise-induced lung cancer prevention: insights from Mendelian randomization and SULT1A1-mediated mechanisms.
Zhu S et al.·Eur J Med Res
2026Functional
Altered expressions of CGRP, SULT1A1, HMGB1, and HIF-1α in the trigeminal ganglion in medication overuse headache in female rats.
Topa EGA et al.·J Headache Pain
2025🔓 Open Access
Allosteric Mechanisms Triggering Substrate and Cofactor Binding in the SULT1A1 Dimer as Revealed by Molecular Dynamics Simulations.
Toth D et al.·J Chem Inf Model
2025🔓 Open AccessFunctional
SAR Studies around the SULT1A1-Activated Alkylator YC-1 as Cytotoxic Agents against Biliary Tract Cancer Cells.
Kong K et al.·J Med Chem
2025
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
StrokeInflammation

PET/MR in Post Stroke Cardiac Inflammation Study

RECRUITING
NCT05791617London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph'sStarted 2023-07-01
cardiac PET/MRIInflammatory markersDiagnostic Test: NT-proBNP

External Resources

Links to major genomics databases and tools