APOA5
The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]
Full Name
Apolipoprotein A5
Function
Minor apolipoprotein mainly associated with HDL and to a lesser extent with VLDL. May also be associated with chylomicrons. Important determinant of plasma triglyceride (TG) levels by both being a potent stimulator of apo-CII lipoprotein lipase (LPL) TG hydrolysis and an inhibitor of the hepatic VLDL-TG production rate (without affecting the VLDL-apoB production rate) (By similarity). Activates poorly lecithin:cholesterol acyltransferase (LCAT) and does not enhance efflux of cholesterol from macrophages. Binds heparin (PubMed:17326667).
Biological Process
Acylglycerol homeostasis Source: BHF-UCL
Cellular protein metabolic process Source: Reactome
Cholesterol biosynthetic process Source: GO_Central
Cholesterol efflux Source: GO_Central
Cholesterol homeostasis Source: BHF-UCL
High-density lipoprotein particle assembly Source: GO_Central
Lipid transport Source: BHF-UCL
Lipoprotein metabolic process Source: GO_Central
Phosphatidylcholine metabolic process Source: GO_Central
Phospholipid efflux Source: GO_Central
Positive regulation of cholesterol esterification Source: GO_Central
Positive regulation of fatty acid biosynthetic process Source: BHF-UCL
Positive regulation of lipid biosynthetic process Source: GO_Central
Positive regulation of lipid catabolic process Source: BHF-UCL
Positive regulation of lipoprotein lipase activity Source: BHF-UCL
Positive regulation of receptor-mediated endocytosis Source: BHF-UCL
Positive regulation of triglyceride catabolic process Source: BHF-UCL
Positive regulation of very-low-density lipoprotein particle remodeling Source: BHF-UCL
Post-translational protein modification Source: Reactome
Regulation of intestinal cholesterol absorption Source: GO_Central
Regulation of metabolic process Source: Reactome
Tissue regeneration Source: UniProtKB
Triglyceride catabolic process Source: BHF-UCL
Triglyceride homeostasis Source: BHF-UCL
Triglyceride metabolic process Source: BHF-UCL
Very-low-density lipoprotein particle remodeling Source: GO_Central
Cellular Location
Trans-Golgi network; Secreted; Early endosome; Late endosome. In the presence of SORL1, internalized to early endosomes, sorted in a retrograde fashion to late endosomes, from which a portion is sent to lysosomes and degradation, another portion is sorted to the trans-Golgi network.
Involvement in disease
Hypertriglyceridemia, familial (FHTR): A common inherited disorder in which the concentration of very low density lipoprotein (VLDL) is elevated in the plasma. This leads to increased risk of heart disease, obesity, and pancreatitis.
Hyperlipoproteinemia 5 (HLPP5): Characterized by increased amounts of chylomicrons and very low density lipoprotein (VLDL) and decreased low density lipoprotein (LDL) and high density lipoprotein (HDL) in the plasma after a fast. Numerous conditions cause this phenotype, including insulin-dependent diabetes mellitus, contraceptive steroids, alcohol abuse, and glycogen storage disease type 1A (GSD1A).
PTM
Phosphorylated by FAM20C in the extracellular medium.