GPIHBP1 Gene Summary [Human]
This gene encodes a capillary endothelial cell protein that facilitates the lipolytic processing of triglyceride-rich lipoproteins. The encoded protein is a glycosylphosphatidylinositol-anchored protein that is a member of the lymphocyte antigen 6 (Ly6) family. This protein plays a major role in transporting lipoprotein lipase (LPL) from the subendothelial spaces to the capillary lumen. Mutations in this gene are the cause of hyperlipoproteinemia, type 1D. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Details
| Type | Protein Coding |
| Official Symbol | GPIHBP1 |
| Official Name | glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 [Source:HGNC Symbol;Acc:HGNC:24945] |
| Ensembl ID | ENSG00000277494 |
| Bio databases IDs | |
| Aliases | glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1, endothelial cell LPL transporter |
| Synonyms | 1110002J19Rik, glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1, GPI-anchored HDL-binding protein 1, HYPL1D, LOC338328, RGD1564237 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GPIHBP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- enzyme binding
- high-density lipoprotein binding
- protein binding
- TFP
- enzyme activator activity
- acidic domain
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- idiopathic pulmonary fibrosis
- hyperlipoproteinemia type 1D
- chylomicronemia
- preeclampsia
- lipoprotein lipase deficiency
role in cell
- binding in
- molecular cleavage in
- binding
- transcytosis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell surface
- Extracellular Space
- plasma membrane extracellular face
- apical membrane
- basolateral membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GPIHBP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein localization at cell surface
- transcytosis
- positive regulation of chylomicron remnant clearance
- triglyceride catabolic process
- protein stabilization
- intracellular protein transport
- triglyceride homeostasis
- cholesterol homeostasis
- protein import
- positive regulation of lipoprotein lipase activity
- response to heparin
Cellular Component
Where in the cell the gene product is active
- external side of plasma membrane
- extracellular region
- basolateral plasma membrane
- apical plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- lipase binding
- protein binding
- lipoprotein lipase activator activity
- acetylcholine receptor inhibitor activity
- lipid binding
- lipoprotein particle binding
- chylomicron binding