SOAT1 (Sterol O-Acyltransferase 1) - Gene Overview, Function, and Disease Associations
Comprehensive biomedical resource for SOAT1, including genomic annotations, expression profiles, mutations, and clinical significance.
Gene Information Card
| Symbol | SOAT1 |
|---|---|
| Full Name | sterol O-acyltransferase 1 |
| Gene Type | protein coding |
| Chromosomal Location | 1q25.2 |
| NCBI Gene ID | 6646 ncbi.nlm.nih.gov/gene/6646 |
| Ensembl ID | ENSG00000103653 |
| UniProt ID | P35610 |
| OMIM ID | 102540 |
| HGNC ID | 11177 |
| Aliases | ACAT1, ACACT, ACAT, STAT, SOAT1 |
Description
SOAT1 (sterol O-acyltransferase 1) encodes an intracellular enzyme that catalyzes the formation of cholesteryl esters from cholesterol and long-chain fatty acyl-CoA. This enzyme plays a critical role in cholesterol homeostasis, lipid storage, and steroid hormone production. SOAT1 is expressed in various tissues, with high levels in the adrenal gland, liver, and macrophages. It is involved in the absorption of dietary cholesterol and the assembly of very low-density lipoproteins. Aberrant SOAT1 activity has been linked to atherosclerosis, Alzheimer's disease, and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atherosclerosis | Increased cholesteryl ester accumulation in macrophages and arterial walls | PMID: 12397072; OMIM 102540 |
| Alzheimer's disease | Altered cholesterol metabolism in brain; SOAT1 activity may modulate amyloid-beta production | PMID: 15159417; OMIM 104300 |
| Hepatocellular carcinoma | Overexpression promotes tumor growth and lipid droplet accumulation | PMID: 30683887; COSMIC SOAT1 |
| Adrenal cortical adenoma | SOAT1 expression linked to cortisol production and tumorigenesis | PMID: 28442445; COSMIC SOAT1 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 78.5 | High |
| Liver | 45.2 | Medium |
| Small intestine | 30.1 | Medium |
| Brain | 12.3 | Low |
| Heart | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 52.3 | Liver cancer cell line; high expression |
| A549 | 18.4 | Lung carcinoma; moderate expression |
| MCF7 | 25.6 | Breast cancer; moderate expression |
| THP-1 | 40.1 | Monocytic leukemia; high expression after differentiation to macrophages |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1096C>T (p.Arg366Cys) | Missense | 0.001% (gnomAD) | Reduced enzyme activity; associated with cholesterol metabolism disorders |
| c.1423G>A (p.Gly475Ser) | Missense | 0.002% (gnomAD) | Potential loss of function; not well characterized |
| c.1744C>T (p.Arg582Trp) | Missense | 0.0005% (gnomAD) | Likely damaging; may affect protein stability |
| c.2011A>G (p.Ile671Val) | Missense | 0.01% (gnomAD) | Benign polymorphism; no known clinical significance |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Arg366Cys and p.Gly475Ser are predicted to reduce enzyme activity, leading to impaired cholesteryl ester synthesis and altered lipid homeostasis.
Gain of Function (GOF)
No gain-of-function mutations have been reported in SOAT1. Overexpression, rather than mutation, is associated with pathological conditions like cancer.
Dominant Negative (DN)
No dominant-negative mutations have been documented for SOAT1.
View complete mutation data：
Gene Ontology (GO)
| • sterol O-acyltransferase activity (GO:0004771) | • endoplasmic reticulum membrane (GO:0005789) |
| • cholesterol metabolic process (GO:0008203) | • lipid metabolic process (GO:0006629) |
| • integral component of membrane (GO:0016021) |
Pathways
• Cholesterol metabolism (Reactome: R-HSA-191273)
• Metabolism of lipids (Reactome: R-HSA-556833)
• VLDL assembly (Reactome: R-HSA-8964043)
Protein Summary
SOAT1 is a 550-amino acid integral membrane protein localized to the endoplasmic reticulum. It contains a sterol O-acyltransferase domain and multiple transmembrane helices. The enzyme catalyzes the transfer of an acyl group from fatty acyl-CoA to cholesterol, producing cholesteryl esters that are stored in lipid droplets. SOAT1 is regulated by cholesterol availability and phosphorylation. It is a target for drug development in atherosclerosis and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SOAT1 Knockout HEK293 Cell Line | EDJ-KQ5816 | Human | 6646 | Details Get a Quote |
| SOAT1 Knockout HCT 116 Cell Line | EDJ-KQ27984 | Human | 6646 | Details Get a Quote |
| SOAT1 Knockout A-549 Cell Line | EDJ-KQ29242 | Human | 6646 | Details Get a Quote |
| SOAT1 Knockout HeLa Cell Line | EDJ-KQ29243 | Human | 6646 | Details Get a Quote |
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