AGPAT1 (1-Acylglycerol-3-Phosphate O-Acyltransferase 1) - Structure, Function, and Clinical Relevance
A key enzyme in phospholipid biosynthesis, implicated in metabolic and inflammatory disorders.
Gene Information Card
| Symbol | AGPAT1 |
|---|---|
| Full Name | 1-acylglycerol-3-phosphate O-acyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 10554 ncbi.nlm.nih.gov/gene/10554 |
| Ensembl ID | ENSG00000204310 |
| UniProt ID | Q99943 |
| OMIM ID | 603099 |
| HGNC ID | 326 |
| Aliases | 1-AGP acyltransferase 1, LPAAT-alpha, G15, LPAAT, MGC26232 |
Description
AGPAT1 encodes 1-acylglycerol-3-phosphate O-acyltransferase 1, an enzyme that catalyzes the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA) by adding a fatty acyl group. This reaction is a critical step in the biosynthesis of phospholipids and triglycerides. AGPAT1 is widely expressed and plays a role in lipid metabolism, cell signaling, and membrane biogenesis. Its expression is particularly high in tissues with active lipid metabolism, such as the liver and adipose tissue. Mutations or dysregulation of AGPAT1 have been linked to metabolic disorders and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Metabolic syndrome | Altered lipid metabolism due to AGPAT1 dysregulation may contribute to insulin resistance and dyslipidemia. | PMID: 21862670 (via NCBI) |
| Inflammatory bowel disease (IBD) | AGPAT1 is located in the MHC region; variants may influence immune response and inflammation. | GWAS catalog (via NCBI) |
| Cancer (various) | Aberrant AGPAT1 expression affects phospholipid composition, potentially promoting tumor cell proliferation. | COSMIC: mutations found in multiple cancer types |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 19.6 | High |
| Adipose tissue | 15.2 | Medium |
| Small intestine | 12.8 | Medium |
| Lung | 8.5 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 18.3 | High expression |
| A549 (lung) | 7.2 | Moderate |
| MCF7 (breast) | 6.5 | Moderate |
| K562 (leukemia) | 3.4 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.584C>T (p.Pro195Leu) | Missense | 0.01% (gnomAD) | May affect enzyme activity; observed in cancer (COSMIC) |
| c.103G>A (p.Val35Met) | Missense | 0.02% (gnomAD) | Potential impact on protein stability |
| c.456_457insA (frameshift) | Insertion | Rare | Loss of function; found in tumor samples (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein, reducing enzymatic activity, impairing phospholipid synthesis.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression may increase PA production in cancer.
Dominant Negative (DN)
Not documented; possible if mutant protein interferes with dimerization.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycerophospholipid biosynthesis
• Triacylglycerol metabolism
• Phosphatidic acid synthesis
Protein Summary
AGPAT1 is a 283-amino acid transmembrane protein localized to the endoplasmic reticulum and mitochondria. It belongs to the lysophosphatidic acid acyltransferase family. The enzyme uses acyl-CoA and lysophosphatidic acid as substrates to produce phosphatidic acid, a precursor for phospholipids and triglycerides. AGPAT1 is involved in lipid droplet formation and signaling. Its activity is regulated by post-translational modifications and interacting partners. Structural studies indicate a conserved acyltransferase domain essential for catalysis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGPAT1 Knockout HEK293 Cell Line | EDC12780 | Human | 10554 | Details Get a Quote |
| AGPAT1 Knockout A-549 Cell Line | EDJ-KQ20178 | Human | 10554 | Details Get a Quote |
| AGPAT1 Knockout HCT 116 Cell Line | EDJ-KQ21530 | Human | 10554 | Details Get a Quote |
| AGPAT1 Knockout HeLa Cell Line | EDJ-KQ21531 | Human | 10554 | Details Get a Quote |
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