NAPEPLD
N-Acyl Phosphatidylethanolamine Phospholipase D
Gene Information Card
| Symbol | NAPEPLD |
|---|---|
| Full Name | N-Acyl Phosphatidylethanolamine Phospholipase D |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 222236 ncbi.nlm.nih.gov/gene/222236 |
| Ensembl ID | ENSG00000164830 |
| UniProt ID | Q6IQ20 |
| OMIM ID | 612334 |
| HGNC ID | 21683 |
| Aliases | NAPE-PLD, NAPE-PLD, FMP30 |
Description
NAPEPLD encodes N-acyl phosphatidylethanolamine phospholipase D, a key enzyme in the biosynthesis of the endocannabinoid anandamide (N-arachidonoylethanolamine). The enzyme catalyzes the hydrolysis of N-acyl phosphatidylethanolamines (NAPEs) to produce N-acylethanolamines (NAEs), including anandamide, which modulates cannabinoid and other signaling pathways. NAPEPLD is expressed in various tissues, particularly the brain, and plays roles in neuroprotection, energy homeostasis, and inflammation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Altered NAPEPLD expression may affect anandamide levels, influencing appetite and energy balance via CB1 receptor signaling. | OMIM 612334; PubMed studies |
| Neuropsychiatric disorders (e.g., depression, anxiety) | Dysregulation of endocannabinoid signaling due to NAPEPLD variants may contribute to mood disorders. | ClinVar; PubMed studies |
| Cancer (e.g., breast, prostate) | Aberrant NAPEPLD expression may alter tumor microenvironment through endocannabinoid-mediated effects on cell proliferation and apoptosis. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Adipose tissue | 8.2 | Medium |
| Liver | 5.1 | Low |
| Lung | 3.8 | Low |
| Kidney | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| HepG2 (hepatocellular carcinoma) | 4.7 | Moderate expression |
| MCF7 (breast cancer) | 6.1 | Moderate expression |
| A549 (lung carcinoma) | 2.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Potentially reduced enzyme activity; reported in ClinVar |
| c.457G>A (p.Gly153Ser) | Missense | <0.01% | Unknown functional impact; rare variant |
| c.784C>T (p.Arg262Trp) | Missense | <0.01% | Associated with altered anandamide levels in some studies |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Thr34Met) may reduce catalytic activity, leading to decreased anandamide production.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase D activity | • N-acylphosphatidylethanolamine-specific phospholipase D activity |
| • metal ion binding | • endocannabinoid signaling pathway |
| • lipid catabolic process | • response to nutrient |
Pathways
• Endocannabinoid signaling
• Glycerophospholipid metabolism
• N-acylethanolamine biosynthesis
Protein Summary
NAPEPLD is a 396-amino acid protein that belongs to the phospholipase D superfamily. It is localized to the plasma membrane and intracellular membranes. The enzyme requires Ca2+ for activity and is highly specific for NAPE substrates. Its primary product, anandamide, acts as a retrograde neurotransmitter in the brain and regulates various physiological processes including pain, mood, appetite, and inflammation. Structural studies indicate a catalytic domain with a conserved HKD motif essential for phospholipase D activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NAPEPLD Knockout HEK293 Cell Line | EDJ-KQ8992 | Human | 222236 | Details Get a Quote |
| NAPEPLD Knockout A-549 Cell Line | EDJ-KQ34166 | Human | 222236 | Details Get a Quote |
| NAPEPLD Knockout HCT 116 Cell Line | EDJ-KQ35428 | Human | 222236 | Details Get a Quote |
| NAPEPLD Knockout HeLa Cell Line | EDJ-KQ35429 | Human | 222236 | Details Get a Quote |
