SULT1E1: Sulfotransferase Family 1E Member 1
Estrogen Sulfotransferase – Key Regulator of Estrogen Homeostasis and Hormone-Dependent Cancers
Gene Information Card
| Symbol | SULT1E1 |
|---|---|
| Full Name | Sulfotransferase Family 1E Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q13.3 |
| NCBI Gene ID | 6783 ncbi.nlm.nih.gov/gene/6783 |
| Ensembl ID | ENSG00000137673 |
| UniProt ID | P49888 |
| OMIM ID | 600043 |
| HGNC ID | 11453 |
| Aliases | EST, EST-1, ST1E1, STE |
Description
SULT1E1 encodes estrogen sulfotransferase, a cytosolic enzyme that catalyzes the sulfation of estrogens (e.g., estradiol, estrone) and other hydroxysteroids. Sulfation inactivates estrogens and facilitates their excretion, thereby regulating estrogen bioavailability and signaling. The gene is located on chromosome 4q13.3 and is primarily expressed in liver, adrenal gland, and hormone-responsive tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Altered SULT1E1 expression affects local estrogen inactivation; reduced activity may increase estrogen-driven proliferation. | PMID: 15642702, ClinVar |
| Endometrial Cancer | Loss of SULT1E1 expression in endometrium leads to elevated active estrogen levels, promoting hyperplasia and carcinogenesis. | PMID: 19029981, COSMIC |
| Estrogen Excess / Hormonal Imbalance | Deficient sulfation due to SULT1E1 variants can contribute to estrogen dominance syndromes. | OMIM #600043 |
| Prostate Cancer | Polymorphisms in SULT1E1 may modulate steroid hormone metabolism and risk. | PMID: 16489015 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Adrenal Gland | 8.3 | Medium |
| Small Intestine | 6.1 | Medium |
| Kidney | 4.7 | Medium |
| Breast | 2.1 | Low |
| Endometrium | 1.8 | Low |
| Placenta | 3.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 15.2 | High expression |
| MCF-7 (breast) | 0.8 | Low expression |
| LNCaP (prostate) | 1.1 | Low expression |
| JEG-3 (placenta) | 4.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense / Start loss | <0.01% | Likely loss of function; reduced enzyme activity |
| c.544G>A (p.Gly182Arg) | Missense | <0.01% | Decreased sulfation activity in vitro |
| c.647C>T (p.Pro216Leu) | Missense | <0.01% | Altered substrate affinity |
| c.1069G>A (p.Ala357Thr) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish sulfation activity (e.g., start-loss, missense variants affecting catalytic domain) lead to impaired estrogen inactivation and increased hormone signaling.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SULT1E1.
Dominant Negative (DN)
No evidence of dominant-negative effects for SULT1E1 variants.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Sulfation of estrogens (Reactome: R-HSA-194068)
• Phase II conjugation of steroid hormones (KEGG: map00980)
• Metabolism of hormones (KEGG: map04976)
Protein Summary
SULT1E1 encodes a 35 kDa cytosolic sulfotransferase that transfers a sulfo group from 3'-phosphoadenosine-5'-phosphosulfate (PAPS) to the hydroxyl group of estrogens and other steroids. The enzyme is critical for estrogen inactivation and clearance. It is highly expressed in liver and adrenal gland, with lower levels in hormone-responsive tissues. Structural studies show a typical sulfotransferase fold with a PAPS-binding domain. Dysregulation of SULT1E1 is implicated in hormone-dependent cancers and endocrine disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SULT1E1 Knockout HEK293 Cell Line | EDJ-KQ5855 | Human | 6783 | Details Get a Quote |
| SULT1E1 Knockout HeLa Cell Line | EDJ-KQ29327 | Human | 6783 | Details Get a Quote |
| SULT1E1 Knockout A-549 Cell Line | EDJ-KQ63068 | Human | 6783 | Details Get a Quote |
| SULT1E1 Knockout HCT 116 Cell Line | EDJ-KQ71543 | Human | 6783 | Details Get a Quote |
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