LPCAT1
Lysophosphatidylcholine Acyltransferase 1: A Key Enzyme in Phospholipid Metabolism and Pulmonary Surfactant Synthesis
Gene Information Card
| Symbol | LPCAT1 |
|---|---|
| Full Name | Lysophosphatidylcholine Acyltransferase 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 5p15.33 |
| NCBI Gene ID | 79888 ncbi.nlm.nih.gov/gene/79888 |
| Ensembl ID | ENSG00000112715 |
| UniProt ID | Q8NF37 |
| OMIM ID | 612460 |
| HGNC ID | 25953 |
| Aliases | LPCAT, AYTL2, AGPAT10, LPAT |
Description
LPCAT1 encodes lysophosphatidylcholine acyltransferase 1, an enzyme that catalyzes the conversion of lysophosphatidylcholine to phosphatidylcholine, a major phospholipid component of cell membranes and pulmonary surfactant. It is highly expressed in lung tissue and plays a critical role in surfactant production, lung function, and lipid metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Respiratory Distress Syndrome (RDS) | Deficiency in LPCAT1 reduces pulmonary surfactant phosphatidylcholine, impairing lung compliance and gas exchange. | PMID: 20081861 |
| Chronic Obstructive Pulmonary Disease (COPD) | Altered LPCAT1 expression may contribute to surfactant dysfunction and airway inflammation. | PMID: 25982113 |
| Lung Cancer | Overexpression of LPCAT1 in non-small cell lung cancer promotes cell proliferation and lipid remodeling. | PMID: 23149919 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 87.3 | High |
| Liver | 12.5 | Medium |
| Kidney | 8.9 | Low |
| Brain | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 95.6 | High expression |
| HepG2 (hepatocellular carcinoma) | 15.2 | Moderate expression |
| HEK293 (embryonic kidney) | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.107C>T (p.Pro36Leu) | Missense | <0.1% | Reduced enzyme activity in vitro |
| c.458G>A (p.Arg153Gln) | Missense | <0.1% | Potential loss of function |
| c.1024A>G (p.Thr342Ala) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Pro36Leu and p.Arg153Gln are predicted to reduce catalytic activity, potentially impairing surfactant production.
Gain of Function (GOF)
No gain-of-function mutations have been reported for LPCAT1.
Dominant Negative (DN)
No dominant-negative mutations have been described for LPCAT1.
View complete mutation data：
Gene Ontology (GO)
| • 1-acylglycerol-3-phosphate O-acyltransferase activity | • lysophosphatidylcholine acyltransferase activity |
| • phospholipid biosynthetic process | • lung alveolus development |
| • endoplasmic reticulum membrane |
Pathways
• Glycerophospholipid metabolism (Reactome: R-HSA-1483206)
• Phospholipid remodeling (Reactome: R-HSA-1482788)
Protein Summary
LPCAT1 is a 534-amino acid integral membrane protein localized to the endoplasmic reticulum. It catalyzes the acylation of lysophosphatidylcholine to form phosphatidylcholine, a key step in the Lands cycle. The enzyme is essential for the production of dipalmitoylphosphatidylcholine (DPPC), the major surface-active component of pulmonary surfactant. LPCAT1 is highly expressed in alveolar type II cells and its deficiency leads to neonatal respiratory distress syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LPCAT1 Knockout HEK293 Cell Line | EDJ-KQ13321 | Human | 79888 | Details Get a Quote |
| LPCAT1 Knockout A-549 Cell Line | EDJ-KQ44018 | Human | 79888 | Details Get a Quote |
| LPCAT1 Knockout HCT 116 Cell Line | EDJ-KQ44020 | Human | 79888 | Details Get a Quote |
| LPCAT1 Knockout HeLa Cell Line | EDJ-KQ44021 | Human | 79888 | Details Get a Quote |
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