SULT1A1 Gene: Sulfotransferase Family 1A Member 1
A key phase II drug-metabolizing enzyme involved in the sulfation of xenobiotics, hormones, and neurotransmitters.
Gene Information Card
| Symbol | SULT1A1 |
|---|---|
| Full Name | Sulfotransferase Family 1A Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 6817 ncbi.nlm.nih.gov/gene/6817 |
| Ensembl ID | ENSG00000196502 |
| UniProt ID | P50225 |
| OMIM ID | 171150 |
| HGNC ID | 11453 |
| Aliases | P-PST, ST1A1, ST1A3, HAST1, HAST2, TSPST1 |
Description
SULT1A1 encodes a member of the sulfotransferase family, which catalyzes the sulfate conjugation of many endogenous and exogenous compounds, including hormones, neurotransmitters, drugs, and dietary xenobiotics. This phase II metabolic reaction typically increases water solubility and facilitates excretion, but can also produce reactive metabolites implicated in carcinogenesis. The gene exhibits genetic polymorphisms that influence enzyme activity and are associated with altered drug response and cancer risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Altered SULT1A1 activity may affect estrogen sulfation and DNA adduct formation; polymorphisms linked to risk | PMID: 15642720, ClinVar |
| Colorectal Cancer | Reduced sulfation of dietary procarcinogens (e.g., heterocyclic amines) may increase mutagenesis | PMID: 15642720, COSMIC |
| Bladder Cancer | Polymorphisms in SULT1A1 associated with altered risk, possibly via sulfation of aromatic amines | PMID: 15642720 |
| Acute Myeloid Leukemia | Low-activity SULT1A1 variants linked to increased risk, possibly due to impaired detoxification | PMID: 15642720 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 28.2 | High |
| Adrenal Gland | 15.3 | Medium |
| Small Intestine | 12.1 | Medium |
| Kidney | 8.5 | Medium |
| Lung | 4.2 | Low |
| Breast | 3.1 | Low |
| Colon | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.5 | Hepatocellular carcinoma cell line |
| Caco-2 | 8.3 | Colorectal adenocarcinoma cell line |
| MCF-7 | 4.1 | Breast cancer cell line |
| A549 | 2.9 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.638A>G (p.Asn213Ser) | SNP | ~30% in Caucasians | Reduced enzyme activity; altered drug and hormone metabolism |
| c.661G>A (p.Val221Met) | SNP | <1% | Unknown functional effect |
| c.164A>G (p.Asn55Ser) | SNP | ~5% in Asians | Reduced activity |
| c.1129G>A (p.Gly377Ser) | SNP | <1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
The c.638A>G (p.Asn213Ser) variant is a common loss-of-function polymorphism resulting in reduced sulfotransferase activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in SULT1A1.
Dominant Negative (DN)
No dominant-negative mutations described for SULT1A1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Sulfation of hormones and neurotransmitters (Reactome: R-HSA-174403)
• Phase II conjugation of xenobiotics (Reactome: R-HSA-156580)
• Estrogen metabolism (KEGG: hsa04915)
Protein Summary
SULT1A1 is a 295-amino acid cytosolic sulfotransferase that transfers a sulfo group from 3'-phosphoadenosine-5'-phosphosulfate (PAPS) to a hydroxyl or amine acceptor. It is highly expressed in liver and adrenal gland, and plays a critical role in the metabolism of estrogens, thyroid hormones, catecholamines, and numerous drugs and dietary compounds. Genetic polymorphisms, particularly the common Asn213Ser variant, significantly alter enzyme activity and have been linked to interindividual differences in drug response and cancer susceptibility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SULT1A1 Knockout HEK293 Cell Line | EDJ-KQ5864 | Human | 6817 | Details Get a Quote |
| SULT1A1 Knockout A-549 Cell Line | EDJ-KQ29348 | Human | 6817 | Details Get a Quote |
| SULT1A1 Knockout HCT 116 Cell Line | EDJ-KQ29349 | Human | 6817 | Details Get a Quote |
| SULT1A1 Knockout HeLa Cell Line | EDJ-KQ29350 | Human | 6817 | Details Get a Quote |
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