SULT4A1: Sulfotransferase Family 4A Member 1
A brain-specific sulfotransferase involved in neurotransmitter and steroid hormone metabolism.
Gene Information Card
| Symbol | SULT4A1 |
|---|---|
| Full Name | Sulfotransferase Family 4A Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 25830 ncbi.nlm.nih.gov/gene/25830 |
| Ensembl ID | ENSG00000100290 |
| UniProt ID | Q9BR01 |
| OMIM ID | 607064 |
| HGNC ID | 11456 |
| Aliases | SULT4A, hBR-STL, BR-STL, ST4A1 |
Description
SULT4A1 encodes a member of the sulfotransferase family, which catalyzes the sulfate conjugation of various substrates, including neurotransmitters and steroid hormones. This gene is predominantly expressed in the brain, particularly in the cerebellum and cerebral cortex, and is involved in the metabolism of catecholamines and other neuroactive compounds. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered SULT4A1 expression may affect dopamine and norepinephrine metabolism, contributing to neurotransmitter imbalances. | Association studies; differential expression in postmortem brain tissue. |
| Bipolar Disorder | Potential dysregulation of sulfotransferase activity impacting steroid hormone and catecholamine homeostasis. | Genetic association and expression profiling. |
| Major Depressive Disorder | Variants in SULT4A1 may influence susceptibility through modulation of neurosteroid sulfation. | Case-control studies; limited evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 12.5 | High |
| Brain (cerebral cortex) | 10.2 | High |
| Brain (hippocampus) | 8.7 | Medium |
| Testis | 1.3 | Low |
| Adrenal gland | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model; high expression |
| U-87 MG (glioblastoma) | 9.5 | Astrocytic origin; moderate expression |
| HEK293 (embryonic kidney) | 0.2 | Very low; non-neuronal |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.374C>T (p.Thr125Met) | missense | 0.02% | Reduced enzymatic activity in vitro |
| c.523G>A (p.Gly175Ser) | missense | 0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
c.1A>G (p.Met1?) is predicted to abolish translation initiation, leading to complete loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SULT4A1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for SULT4A1.
View complete mutation data：
Gene Ontology (GO)
| • sulfotransferase activity (GO:0008146) | • aryl sulfotransferase activity (GO:0004062) |
| • neurotransmitter sulfation (GO:0051923) | • steroid sulfation (GO:0051924) |
| • cytoplasm (GO:0005737) |
Pathways
• Sulfation of neurotransmitters (Reactome: R-HSA-174362)
• Sulfation of steroids (Reactome: R-HSA-174363)
Protein Summary
SULT4A1 is a 284-amino acid cytosolic sulfotransferase that transfers a sulfate group from 3'-phosphoadenosine-5'-phosphosulfate (PAPS) to hydroxyl groups of acceptor molecules. It is highly expressed in the brain and plays a role in the inactivation and metabolism of catecholamines (e.g., dopamine, norepinephrine) and neurosteroids. The protein structure includes a conserved PAPS-binding domain and a substrate-binding pocket. Post-translational modifications include phosphorylation at Ser-138, which may regulate activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SULT4A1 Knockout HEK293 Cell Line | EDJ-KQ8254 | Human | 25830 | Details Get a Quote |
| SULT4A1 Knockout HCT 116 Cell Line | EDJ-KQ34188 | Human | 25830 | Details Get a Quote |
| SULT4A1 Knockout HeLa Cell Line | EDJ-KQ34189 | Human | 25830 | Details Get a Quote |
| SULT4A1 Knockout A-549 Cell Line | EDJ-KQ64316 | Human | 25830 | Details Get a Quote |
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