GPAM (Glycerol-3-Phosphate Acyltransferase, Mitochondrial)
Key enzyme in triglyceride and phospholipid biosynthesis, implicated in metabolic disorders and cancer.
Gene Information Card
| Symbol | GPAM |
|---|---|
| Full Name | Glycerol-3-Phosphate Acyltransferase, Mitochondrial |
| Gene Type | protein-coding |
| Chromosomal Location | 10q25.2 |
| NCBI Gene ID | 57678 ncbi.nlm.nih.gov/gene/57678 |
| Ensembl ID | ENSG00000119986 |
| UniProt ID | Q9HCL2 |
| OMIM ID | 603402 |
| HGNC ID | 24892 |
| Aliases | GPAT1, GPAT, MGC26218 |
Description
GPAM encodes the mitochondrial isoform of glycerol-3-phosphate acyltransferase (GPAT), which catalyzes the first committed step in glycerolipid biosynthesis, converting glycerol-3-phosphate to lysophosphatidic acid. This enzyme is predominantly expressed in liver and adipose tissue and plays a critical role in triglyceride and phospholipid synthesis, energy homeostasis, and metabolic regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Altered GPAM expression affects lipid storage and adipogenesis; variants associated with body mass index. | GWAS (PMID: 25673413) |
| Non-alcoholic fatty liver disease (NAFLD) | Increased GPAM activity promotes hepatic triglyceride accumulation. | Expression studies (PMID: 24879925) |
| Type 2 diabetes | GPAM dysregulation contributes to insulin resistance via altered lipid metabolism. | Association studies (PMID: 20628086) |
| Hepatocellular carcinoma | GPAM overexpression supports lipogenesis and tumor growth. | Expression profiling (PMID: 31073040) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 37.5 | High |
| Adipose tissue | 28.2 | High |
| Kidney | 12.1 | Medium |
| Heart | 8.4 | Medium |
| Skeletal muscle | 5.3 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 42.0 | Liver cancer cell line; high expression |
| 3T3-L1 (adipocyte) | 35.6 | Differentiated adipocytes; high expression |
| HeLa | 6.8 | Cervical cancer; moderate expression |
| A549 | 4.2 | Lung cancer; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109G>A (p.Gly37Arg) | Missense | <0.01% | Reduced enzyme activity; associated with altered lipid profiles |
| c.758C>T (p.Thr253Met) | Missense | <0.01% | Unknown functional effect; rare population variant |
| c.1234_1235insA | Frameshift | <0.01% | Loss of function; predicted protein truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the protein or disrupt catalytic activity are classified as loss-of-function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in GPAM.
Dominant Negative (DN)
No evidence of dominant-negative effects for GPAM mutations.
View complete mutation data：
Gene Ontology (GO)
| • glycerol-3-phosphate O-acyltransferase activity (GO:0004366) | • phospholipid biosynthetic process (GO:0008654) |
| • integral component of membrane (GO:0016021) | • mitochondrion (GO:0005739) |
| • fatty acid metabolic process (GO:0006631) | • cellular lipid metabolic process (GO:0044255) |
Pathways
• Glycerolipid metabolism (Reactome R-HSA-1483206)
• Triacylglycerol biosynthesis (KEGG hsa00561)
• Phospholipid metabolism (KEGG hsa00564)
Protein Summary
GPAM encodes a 828-amino acid mitochondrial membrane protein (UniProt Q9HCL2) that catalyzes the acylation of glycerol-3-phosphate using long-chain acyl-CoA substrates. The enzyme is rate-limiting for triglyceride and phospholipid synthesis, with highest expression in liver and adipose tissue. Its activity is regulated by insulin and nutritional status, and dysregulation contributes to metabolic diseases and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPAM Knockout HEK293 Cell Line | EDJ-KQ3039 | Human | 57678 | Details Get a Quote |
| GPAM Knockout A-549 Cell Line | EDJ-KQ24277 | Human | 57678 | Details Get a Quote |
| GPAM Knockout HCT 116 Cell Line | EDJ-KQ24278 | Human | 57678 | Details Get a Quote |
| GPAM Knockout HeLa Cell Line | EDJ-KQ24279 | Human | 57678 | Details Get a Quote |
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