AGPAT5: 1-Acylglycerol-3-Phosphate O-Acyltransferase 5
Key enzyme in phospholipid biosynthesis and lipid metabolism
Gene Information Card
| Symbol | AGPAT5 |
|---|---|
| Full Name | 1-Acylglycerol-3-Phosphate O-Acyltransferase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 26003 ncbi.nlm.nih.gov/gene/26003 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9NUQ2 |
| OMIM ID | 610984 |
| HGNC ID | 20924 |
| Aliases | LPAAT-epsilon, LPAAT5, 1-AGPAT5 |
Description
AGPAT5 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. This reaction is a key step in the biosynthesis of phospholipids and triacylglycerols. The protein is localized to the endoplasmic reticulum and is involved in lipid metabolism, cell signaling, and membrane biogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lipodystrophy | Altered AGPAT5 activity may disrupt phospholipid synthesis, affecting adipocyte function and lipid storage. | Limited evidence; inferred from related AGPAT family members. |
| Cancer (various) | Dysregulation of AGPAT5 expression has been observed in certain cancers, potentially influencing cell proliferation and lipid signaling. | COSMIC database reports somatic mutations in multiple cancer types. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Brain | 6.1 | Low |
| Heart | 4.7 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in embryonic kidney cells |
| HepG2 | 10.8 | Hepatocellular carcinoma cell line |
| A549 | 7.4 | Lung carcinoma cell line |
| MCF7 | 5.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487G>A (p.Gly163Arg) | Missense | 0.01% | Unknown functional impact; predicted possibly damaging by in silico tools. |
| c.1022C>T (p.Thr341Met) | Missense | 0.005% | Reported in COSMIC; no known disease association. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) | • phospholipid biosynthetic process (GO:0008654) |
| • endoplasmic reticulum membrane (GO:0005789) | • integral component of membrane (GO:0016021) |
| • lipid metabolic process (GO:0006629) |
Pathways
• Glycerophospholipid biosynthesis (Reactome: R-HSA-1483206)
• Triacylglycerol biosynthesis (Reactome: R-HSA-75109)
Protein Summary
AGPAT5 is a 364-amino acid transmembrane protein localized to the endoplasmic reticulum. It belongs to the 1-acylglycerol-3-phosphate O-acyltransferase family, which catalyzes the acylation of lysophosphatidic acid to form phosphatidic acid. This enzyme is involved in the de novo synthesis of phospholipids and triacylglycerols, essential for membrane formation and energy storage. The protein contains a conserved acyltransferase domain and is ubiquitously expressed, with highest levels in adipose tissue and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGPAT5 Knockout HEK293 Cell Line | EDJ-KQ1709 | Human | 55326 | Details Get a Quote |
| AGPAT5 Knockout A-549 Cell Line | EDJ-KQ21541 | Human | 55326 | Details Get a Quote |
| AGPAT5 Knockout HCT 116 Cell Line | EDJ-KQ21542 | Human | 55326 | Details Get a Quote |
| AGPAT5 Knockout HeLa Cell Line | EDJ-KQ21543 | Human | 55326 | Details Get a Quote |
