SULT1E1
Chr 4sulfotransferase family 1E member 1
Also known as: EST, EST-1, ST1E1, STE
The SULT1E1 protein is a sulfotransferase enzyme that catalyzes sulfate conjugation of estradiol and estrone, serving as a key regulator of estrogen homeostasis by inactivating these hormones through sulfation. The gene is highly constrained against loss-of-function variants, but no Mendelian diseases have been definitively associated with SULT1E1 mutations in current clinical genetics practice. Research suggests potential roles in neurodevelopment through metabolism of gut bacteria-derived compounds that may affect oligodendrocyte maturation and brain connectivity.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
86 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 21 | 0 | 21 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 36 | 13 | 0 | 49 |
Likely Benign | 0 | 1 | 1 | 3 | 5 |
Benign | 0 | 0 | 0 | 2 | 2 |
| Total | 0 | 37 | 36 | 5 | 78 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SULT1E1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools