APOA5
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).
Involvement in disease
Hypertriglyceridemia 1
HYTG1
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. Inheritance is autosomal dominant.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
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).
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by FAM20C in the extracellular medium.
Sequence Similarities
Belongs to the apolipoprotein A1/A4/E family.
Tissue Specificity
Liver and plasma.
Cellular localization
- Secreted
- Early endosome
- Late endosome
- Golgi apparatus
- trans-Golgi network
- 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.
Alternative names
RAP3, UNQ411/PRO773, APOA5, Apolipoprotein A-V, Apo-AV, ApoA-V, Apolipoprotein A5, Regeneration-associated protein 3