GPIHBP1
Glycosylphosphatidylinositol Anchored High Density Lipoprotein Binding Protein 1
Gene Information Card
| Symbol | GPIHBP1 |
|---|---|
| Full Name | Glycosylphosphatidylinositol Anchored High Density Lipoprotein Binding Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 338328 ncbi.nlm.nih.gov/gene/338328 |
| Ensembl ID | ENSG00000177425 |
| UniProt ID | Q8IV16 |
| OMIM ID | 612757 |
| HGNC ID | 24945 |
| Aliases | GPI-HBP1, HBP1, MGC33993 |
Description
GPIHBP1 encodes a glycosylphosphatidylinositol-anchored protein that binds high-density lipoproteins and facilitates the transport of lipoprotein lipase (LPL) to the capillary lumen. It is essential for the lipolytic processing of triglyceride-rich lipoproteins. Mutations in GPIHBP1 cause familial chylomicronemia syndrome type 1 (FCS1) due to impaired LPL delivery.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial chylomicronemia syndrome type 1 (FCS1) | Loss-of-function mutations in GPIHBP1 prevent LPL transport to capillary endothelial cells, leading to severe hypertriglyceridemia and chylomicronemia. | ClinVar, OMIM |
| Hypertriglyceridemia, susceptibility to | Heterozygous GPIHBP1 variants may contribute to moderate hypertriglyceridemia by reducing LPL activity. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Adipose tissue | 8.3 | Low |
| Skeletal muscle | 6.7 | Low |
| Liver | 2.1 | Not detected |
| Lung | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 15.2 | High expression |
| HepG2 | 0.8 | Low expression |
| THP-1 (macrophage) | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.194G>A (p.Cys65Tyr) | Missense | Rare | Loss of LPL binding; causes FCS1 |
| c.296C>T (p.Pro99Leu) | Missense | Rare | Impaired GPI anchor attachment; causes FCS1 |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production; causes FCS1 |
Mutation functional classification
Loss of Function (LOF)
Most GPIHBP1 mutations are loss-of-function, disrupting LPL binding or cell surface localization, leading to chylomicronemia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • lipoprotein particle receptor activity (GO:0030228) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • cholesterol metabolic process (GO:0008203) |
| • positive regulation of triglyceride catabolic process (GO:0010898) |
Pathways
• Lipoprotein metabolism (Reactome: R-HSA-174824)
• Chylomicron-mediated lipid transport (Reactome: R-HSA-174800)
Protein Summary
GPIHBP1 is a 184-amino acid protein with an N-terminal signal peptide, an acidic domain, a Ly6/uPAR domain, and a C-terminal GPI anchor. It is expressed on capillary endothelial cells, where it captures LPL from the subendothelial space and shuttles it to the luminal surface for lipolysis. The acidic domain binds LPL, while the Ly6 domain stabilizes the complex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPIHBP1 Knockout HEK293 Cell Line | EDJ-KQ13654 | Human | 338328 | Details Get a Quote |
| GPIHBP1 Knockout HeLa Cell Line | EDJ-KQ59607 | Human | 338328 | Details Get a Quote |
| GPIHBP1 Knockout A-549 Cell Line | EDJ-KQ68072 | Human | 338328 | Details Get a Quote |
| GPIHBP1 Knockout HCT 116 Cell Line | EDJ-KQ76449 | Human | 338328 | Details Get a Quote |
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