GPAT4: Glycerol-3-Phosphate Acyltransferase 4
Key enzyme in glycerolipid biosynthesis and lipid droplet formation
Gene Information Card
| Symbol | GPAT4 |
|---|---|
| Full Name | Glycerol-3-Phosphate Acyltransferase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.13 |
| NCBI Gene ID | 137964 ncbi.nlm.nih.gov/gene/137964 |
| Ensembl ID | ENSG00000147872 |
| UniProt ID | Q86UL3 |
| OMIM ID | 608204 |
| HGNC ID | 24963 |
| Aliases | AGPAT6, 1-acylglycerol-3-phosphate O-acyltransferase 6, LPAAT-zeta, lysophosphatidic acid acyltransferase zeta |
Description
GPAT4 (Glycerol-3-Phosphate Acyltransferase 4) encodes an enzyme that catalyzes the first step of glycerolipid biosynthesis, converting glycerol-3-phosphate to lysophosphatidic acid (LPA). It is localized to the endoplasmic reticulum and plays a critical role in triacylglycerol synthesis and lipid droplet formation. GPAT4 is highly expressed in adipose tissue, liver, and mammary gland, and its activity is regulated by insulin and nutritional status.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lipodystrophy | Loss-of-function mutations reduce triglyceride storage in adipose tissue, leading to metabolic dysregulation. | OMIM #608204; PMID: 22118931 |
| Non-alcoholic fatty liver disease (NAFLD) | Altered GPAT4 expression contributes to hepatic steatosis by modulating triglyceride synthesis. | PMID: 24722445 |
| Breast cancer | Overexpression of GPAT4 in certain subtypes may support lipid metabolism required for tumor growth. | COSMIC; PMID: 29056339 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 45.2 | High |
| Liver | 32.8 | High |
| Mammary gland | 28.1 | High |
| Small intestine | 18.5 | Medium |
| Heart | 12.3 | Medium |
| Skeletal muscle | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 35.6 | Hepatocellular carcinoma cell line; high expression |
| 3T3-L1 (adipocyte) | 52.1 | Differentiated adipocytes; very high expression |
| MCF7 | 22.4 | Breast cancer cell line; moderate expression |
| HeLa | 15.3 | Cervical cancer cell line; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Ter) | Nonsense | Rare | Loss of function; associated with lipodystrophy |
| c.1526G>A (p.Arg509His) | Missense | 0.01% (gnomAD) | Reduced enzymatic activity; potential metabolic phenotype |
| c.2041A>G (p.Ile681Val) | Missense | 0.05% (gnomAD) | Benign; no known functional impact |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg358Ter) lead to truncated protein and loss of acyltransferase activity, impairing triglyceride synthesis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in literature or curated databases.
Dominant Negative (DN)
Not described for GPAT4; likely recessive inheritance pattern for loss-of-function alleles.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycerolipid metabolism (Reactome: R-HSA-1483206)
• Triacylglycerol biosynthesis (KEGG: hsa00561)
• Glycerophospholipid biosynthesis (KEGG: hsa00564)
• Lipid droplet formation (Reactome: R-HSA-8978868)
Protein Summary
GPAT4 is a 456-amino acid integral membrane protein of the endoplasmic reticulum. It belongs to the GPAT family and possesses both glycerol-3-phosphate acyltransferase (GPAT) and lysophosphatidic acid acyltransferase (LPAAT) activities. The enzyme uses acyl-CoA as a donor to acylate glycerol-3-phosphate, producing lysophosphatidic acid, a precursor for phospholipids and triglycerides. GPAT4 is essential for lipid storage in adipose tissue and liver, and its deficiency leads to reduced body fat and hepatic steatosis resistance in mouse models.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGPAT4 Knockout HEK293 Cell Line | EDJ-KQ1708 | Human | 56895 | Details Get a Quote |
| GPAT4 Knockout HEK293 Cell Line | EDJ-KQ9400 | Human | 137964 | Details Get a Quote |
| GPAT4 Knockout HCT 116 Cell Line | EDJ-KQ36050 | Human | 137964 | Details Get a Quote |
| GPAT4 Knockout HeLa Cell Line | EDJ-KQ36051 | Human | 137964 | Details Get a Quote |
| AGPAT4 Knockout A-549 Cell Line | EDJ-KQ21538 | Human | 56895 | Details Get a Quote |
| AGPAT4 Knockout HCT 116 Cell Line | EDJ-KQ21539 | Human | 56895 | Details Get a Quote |
| AGPAT4 Knockout HeLa Cell Line | EDJ-KQ21540 | Human | 56895 | Details Get a Quote |
| GPAT4 Knockout A-549 Cell Line | EDJ-KQ34802 | Human | 137964 | Details Get a Quote |
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