AGPAT4
1-Acylglycerol-3-Phosphate O-Acyltransferase 4
Gene Information Card
| Symbol | AGPAT4 |
|---|---|
| Full Name | 1-Acylglycerol-3-Phosphate O-Acyltransferase 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q26 |
| NCBI Gene ID | 56895 ncbi.nlm.nih.gov/gene/56895 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q9NRZ5 |
| OMIM ID | 605114 |
| HGNC ID | 327 |
| Aliases | LPAAT-delta, 1-AGPAT4, LPAAT4 |
Description
AGPAT4 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 protein is a member of the 1-acylglycerol-3-phosphate O-acyltransferase family and plays a key role in phospholipid biosynthesis, particularly in the endoplasmic reticulum and mitochondria. AGPAT4 is involved in lipid metabolism, cell signaling, and membrane biogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Altered AGPAT4 expression may affect adipose tissue lipid storage and energy homeostasis. | NCBI Gene, OMIM |
| Insulin Resistance | Dysregulation of AGPAT4 in metabolic tissues can impair insulin signaling through altered phospholipid composition. | NCBI Gene, OMIM |
| Cancer (various) | AGPAT4 overexpression in certain tumors may promote cell proliferation via increased phosphatidic acid production. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Brain | 6.1 | Low |
| Heart | 4.7 | Low |
| Skeletal muscle | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocellular carcinoma cell line |
| 3T3-L1 | 8.9 | Adipocyte precursor cell line |
| SH-SY5Y | 5.4 | Neuroblastoma cell line |
| MCF7 | 4.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional impact |
| c.457G>A (p.Gly153Ser) | Missense | <0.01% | Potential loss of catalytic activity |
| c.788_789insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated, non-functional protein.
Gain of Function (GOF)
Not reported in literature or databases.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003841 (1-acylglycerol-3-phosphate O-acyltransferase activity) | • GO:0006656 (phosphatidic acid biosynthetic process) |
| • GO:0005783 (endoplasmic reticulum) | • GO:0005739 (mitochondrion) |
| • GO:0008654 (phospholipid biosynthetic process) |
Pathways
• Glycerophospholipid biosynthesis (Reactome: R-HSA-1483206)
• Triacylglycerol biosynthesis (Reactome: R-HSA-75105)
Protein Summary
The AGPAT4 protein (UniProt Q9NRZ5) is a 456-amino acid transmembrane enzyme localized to the endoplasmic reticulum and mitochondria. It contains a conserved acyltransferase domain and catalyzes the acylation of lysophosphatidic acid to form phosphatidic acid, a key intermediate in glycerophospholipid and triacylglycerol synthesis. The protein is expressed in multiple tissues, with highest levels in adipose tissue and liver, and is implicated in metabolic regulation and cancer cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGPAT4 Knockout HEK293 Cell Line | EDJ-KQ1708 | Human | 56895 | 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 |
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