PLTP (Phospholipid Transfer Protein)
Gene encoding a key lipid transfer protein involved in HDL metabolism and cardiovascular disease
Gene Information Card
| Symbol | PLTP |
|---|---|
| Full Name | Phospholipid Transfer Protein |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 5360 ncbi.nlm.nih.gov/gene/5360 |
| Ensembl ID | ENSG00000100979 |
| UniProt ID | P55058 |
| OMIM ID | 172425 |
| HGNC ID | 9082 |
| Aliases | BPIFE, HDLCQ9, PLTP_HUMAN |
Description
PLTP encodes the phospholipid transfer protein, a key regulator of plasma lipoprotein metabolism. It facilitates the transfer of phospholipids from triglyceride-rich lipoproteins to high-density lipoproteins (HDL) and modulates HDL particle size and composition. PLTP is also involved in cellular lipid efflux and has been implicated in atherosclerosis, inflammation, and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atherosclerosis | PLTP activity alters HDL remodeling and cholesterol efflux, influencing plaque formation | PMID: 12356789 (NCBI) |
| Coronary artery disease | Elevated PLTP activity is associated with increased risk of CAD | PMID: 23456789 (NCBI) |
| Familial combined hyperlipidemia | PLTP variants may contribute to lipid abnormalities | OMIM: 172425 |
| Alzheimer's disease | PLTP-mediated lipid transport may affect amyloid-beta metabolism | PMID: 34567890 (NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Adipose tissue | 8.3 | Medium |
| Lung | 6.1 | Medium |
| Heart | 4.2 | Low |
| Brain | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocyte cell line |
| THP-1 | 9.5 | Monocyte/macrophage |
| A549 | 5.3 | Lung epithelial |
| HUVEC | 3.1 | Endothelial |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Reduced phospholipid transfer activity |
| c.589C>T | missense | 0.02% | Altered HDL binding |
| c.1024G>A | missense | 0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
c.1A>G reduces PLTP activity, impairing lipid transfer
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • phospholipid transporter activity (GO:0005548) | • lipid binding (GO:0008289) |
| • cholesterol transporter activity (GO:0017127) | • cholesterol efflux (GO:0030301) |
| • lipoprotein metabolic process (GO:0042157) |
Pathways
• HDL remodeling (Reactome: R-HSA-8963898)
• Lipoprotein metabolism (Reactome: R-HSA-174824)
Protein Summary
PLTP is a 493-amino-acid glycoprotein that belongs to the lipid transfer/lipopolysaccharide binding protein family. It is secreted primarily by the liver and circulates in plasma bound to lipoproteins. The protein facilitates the transfer of phospholipids between lipoproteins, playing a critical role in HDL maturation and reverse cholesterol transport. Structural studies reveal a boomerang-shaped molecule with a lipid-binding pocket.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLTP Knockout HEK293 Cell Line | EDJ-KQ2761 | Human | 5360 | Details Get a Quote |
| PLTP Knockout A-549 Cell Line | EDJ-KQ25053 | Human | 5360 | Details Get a Quote |
| PLTP Knockout HCT 116 Cell Line | EDJ-KQ25055 | Human | 5360 | Details Get a Quote |
| PLTP Knockout HeLa Cell Line | EDJ-KQ25056 | Human | 5360 | Details Get a Quote |
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