APOA5 Gene - Apolipoprotein A5
Key regulator of triglyceride metabolism and cardiovascular risk
Gene Information Card
| Symbol | APOA5 |
|---|---|
| Full Name | apolipoprotein A5 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 116519 ncbi.nlm.nih.gov/gene/116519 |
| Ensembl ID | ENSG00000110243 |
| UniProt ID | Q6Q788 |
| OMIM ID | 606368 |
| HGNC ID | 17295 |
| Aliases | APOAV, RAP3, APOA-V |
Description
The APOA5 gene encodes apolipoprotein A-V, a protein that plays a critical role in the regulation of plasma triglyceride levels. It is primarily expressed in the liver and functions as a modulator of lipoprotein lipase activity, influencing the clearance of triglyceride-rich lipoproteins. Variants in APOA5 are associated with hypertriglyceridemia and increased risk of cardiovascular disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertriglyceridemia | Loss-of-function variants reduce triglyceride clearance, leading to elevated plasma triglycerides. | ClinVar, OMIM |
| Cardiovascular disease | Elevated triglycerides due to APOA5 dysfunction contribute to atherosclerosis risk. | NCBI Gene, OMIM |
| Familial combined hyperlipidemia | APOA5 variants may exacerbate lipid abnormalities in this polygenic disorder. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Small intestine | 3.2 | Medium |
| Adipose tissue | 1.1 | Low |
| Kidney | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 8.4 | Hepatocellular carcinoma cell line |
| Huh-7 | 6.7 | Hepatoma cell line |
| Caco-2 | 2.1 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.553G>T (p.Gly185Cys) | Missense | 0.5% in East Asian populations | Reduced protein stability and function |
| c.56C>G (p.Ser19Trp) | Missense | 1.2% in European populations | Impaired secretion and activity |
| c.457G>A (p.Gly153Arg) | Missense | 0.3% globally | Decreased triglyceride clearance |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Gly185Cys and p.Ser19Trp reduce APOA5 protein stability or secretion, impairing triglyceride hydrolysis and clearance.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in APOA5.
Dominant Negative (DN)
No evidence of dominant-negative effects; APOA5 acts as a monomer and haploinsufficiency is the primary mechanism.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Lipoprotein metabolism (Reactome: R-HSA-174824)
• Plasma lipoprotein assembly
• remodeling
• and clearance (Reactome: R-HSA-174824)
• Triglyceride metabolism (KEGG: hsa00561)
Protein Summary
Apolipoprotein A-V is a 366-amino acid protein secreted by the liver. It associates with high-density lipoproteins and chylomicrons, enhancing lipoprotein lipase activity and receptor-mediated clearance of triglyceride-rich particles. Its structure includes a lipid-binding domain and a C-terminal region critical for protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOA5 Knockout HEK293 Cell Line | EDJ-KQ7576 | Human | 116519 | Details Get a Quote |
| APOA5 Knockout HeLa Cell Line | EDJ-KQ57994 | Human | 116519 | Details Get a Quote |
| APOA5 Knockout A-549 Cell Line | EDJ-KQ66480 | Human | 116519 | Details Get a Quote |
| APOA5 Knockout HCT 116 Cell Line | EDJ-KQ74903 | Human | 116519 | Details Get a Quote |
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