AGPAT3: 1-Acylglycerol-3-Phosphate O-Acyltransferase 3
Key enzyme in phospholipid biosynthesis and lipid metabolism
Gene Information Card
| Symbol | AGPAT3 |
|---|---|
| Full Name | 1-Acylglycerol-3-Phosphate O-Acyltransferase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 56894 ncbi.nlm.nih.gov/gene/56894 |
| Ensembl ID | ENSG00000160216 |
| UniProt ID | Q9NRZ7 |
| OMIM ID | 614763 |
| HGNC ID | 327 |
| Aliases | LPAAT3, 1-AGPAT3, MGC2615 |
Description
AGPAT3 encodes an enzyme that catalyzes the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA) by incorporating an acyl group at the sn-2 position of the glycerol backbone. This enzyme is involved in the biosynthesis of phospholipids, which are critical components of cellular membranes and signaling molecules. AGPAT3 is ubiquitously expressed, with highest levels in the brain, heart, and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered AGPAT3 expression may affect phospholipid remodeling, influencing cell proliferation and metastasis. | PubMed studies show upregulation in breast and ovarian cancer. |
| Metabolic syndrome | AGPAT3 variants may impact lipid metabolism, contributing to insulin resistance and obesity. | GWAS associations reported in metabolic trait studies. |
| Neurodevelopmental disorders | AGPAT3 deficiency in animal models leads to impaired brain development and synaptic function. | Functional studies in mice and zebrafish. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 10.2 | High |
| Skeletal Muscle | 8.9 | High |
| Liver | 6.1 | Medium |
| Kidney | 5.4 | Medium |
| Lung | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.7 | Cervical cancer cell line |
| MCF7 | 7.2 | Breast cancer cell line |
| HEK293 | 6.5 | Embryonic kidney cells |
| HepG2 | 5.8 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.1% | Reduced enzyme activity in vitro |
| c.457C>T (p.Arg153Trp) | Missense | <0.1% | Altered substrate specificity |
| c.789_790insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein lead to loss of acyltransferase activity.
Gain of Function (GOF)
Not reported in literature.
Dominant Negative (DN)
Not reported in literature.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003841 - 1-acylglycerol-3-phosphate O-acyltransferase activity | • GO:0008654 - phospholipid biosynthetic process |
| • GO:0016020 - membrane | • GO:0005789 - endoplasmic reticulum membrane |
| • GO:0006629 - lipid metabolic process |
Pathways
• Glycerophospholipid biosynthesis (Reactome: R-HSA-1483206)
• Triacylglycerol biosynthesis (Reactome: R-HSA-75109)
Protein Summary
AGPAT3 is a 376-amino acid integral membrane protein localized to the endoplasmic reticulum. It belongs to the 1-acylglycerol-3-phosphate O-acyltransferase family and is essential for the acylation step in phospholipid synthesis. The protein contains a conserved acyltransferase domain and is involved in maintaining membrane lipid homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGPAT3 Knockout HEK293 Cell Line | EDJ-KQ1707 | Human | 56894 | Details Get a Quote |
| AGPAT3 Knockout HCT 116 Cell Line | EDJ-KQ20185 | Human | 56894 | Details Get a Quote |
| AGPAT3 Knockout A-549 Cell Line | EDJ-KQ21535 | Human | 56894 | Details Get a Quote |
| AGPAT3 Knockout HeLa Cell Line | EDJ-KQ21537 | Human | 56894 | Details Get a Quote |
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