LPGAT1
Lysophosphatidylglycerol Acyltransferase 1
Gene Information Card
| Symbol | LPGAT1 |
|---|---|
| Full Name | Lysophosphatidylglycerol Acyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.3 |
| NCBI Gene ID | 9926 ncbi.nlm.nih.gov/gene/9926 |
| Ensembl ID | ENSG00000143384 |
| UniProt ID | Q92604 |
| OMIM ID | 610473 |
| HGNC ID | 28976 |
| Aliases | 1-AGP acyltransferase 1, 1-acylglycerol-3-phosphate O-acyltransferase 1, AGPAT1, LPAAT-alpha, LPAATA |
Description
LPGAT1 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 protein is involved in phospholipid biosynthesis, particularly in the synthesis of cardiolipin and other glycerophospholipids. It is widely expressed and plays a role in membrane biogenesis and lipid signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lipodystrophy, familial partial, type 1 (FPLD1) | Altered phospholipid metabolism due to LPGAT1 dysfunction may contribute to adipose tissue abnormalities. | OMIM #608709 |
| Non-alcoholic fatty liver disease (NAFLD) | Variants in LPGAT1 are associated with hepatic steatosis and altered lipid droplet formation. | ClinVar, PubMed studies |
| Cancer (various) | Dysregulation of LPGAT1 expression affects phospholipid remodeling in tumor cells, influencing proliferation and metastasis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose tissue | 8.3 | Medium |
| Brain | 6.1 | Low |
| Heart | 4.7 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| 3T3-L1 | 10.2 | Adipocyte precursor cells |
| MCF7 | 5.8 | Breast cancer cell line |
| A549 | 4.1 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.584C>T (p.Thr195Met) | Missense | 0.01% (gnomAD) | Reduced enzymatic activity; associated with lipodystrophy |
| c.1022G>A (p.Arg341Gln) | Missense | 0.005% (gnomAD) | Impaired substrate binding; potential role in NAFLD |
| c.1345_1347del (p.Phe449del) | In-frame deletion | <0.001% (COSMIC) | Loss of function; observed in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that reduce or abolish acyltransferase activity, leading to altered phospholipid profiles.
Gain of Function (GOF)
Not reported for LPGAT1.
Dominant Negative (DN)
Not reported for LPGAT1.
View complete mutation data：
Gene Ontology (GO)
| • 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) | • phospholipid biosynthetic process (GO:0008654) |
| • integral component of membrane (GO:0016021) | • endoplasmic reticulum (GO:0005783) |
| • lipid metabolic process (GO:0006629) |
Pathways
• Glycerophospholipid biosynthesis (Reactome: R-HSA-1483206)
• Cardiolipin biosynthesis (Reactome: R-HSA-1482798)
• Triacylglycerol biosynthesis (Reactome: R-HSA-75105)
Protein Summary
LPGAT1 is a 283-amino acid integral membrane protein localized to the endoplasmic reticulum. It belongs to the 1-acylglycerol-3-phosphate O-acyltransferase family and catalyzes the acylation of lysophosphatidic acid to form phosphatidic acid, a key intermediate in glycerophospholipid and triacylglycerol synthesis. The enzyme is essential for maintaining membrane lipid homeostasis and is implicated in metabolic disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LPGAT1 Knockout HEK293 Cell Line | EDJ-KQ2250 | Human | 9926 | Details Get a Quote |
| LPGAT1 Knockout A-549 Cell Line | EDJ-KQ22560 | Human | 9926 | Details Get a Quote |
| LPGAT1 Knockout HCT 116 Cell Line | EDJ-KQ22561 | Human | 9926 | Details Get a Quote |
| LPGAT1 Knockout HeLa Cell Line | EDJ-KQ22562 | Human | 9926 | Details Get a Quote |
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