APOA1: Apolipoprotein A1
Key regulator of HDL metabolism and cardiovascular health
Gene Information Card
| Symbol | APOA1 |
|---|---|
| Full Name | Apolipoprotein A1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 335 ncbi.nlm.nih.gov/gene/335 |
| Ensembl ID | ENSG00000118137 |
| UniProt ID | P02647 |
| OMIM ID | 107680 |
| HGNC ID | 600 |
| Aliases | apoA-I, apo-AI, APOA1 |
Description
APOA1 encodes apolipoprotein A1, the major protein component of high-density lipoprotein (HDL) in plasma. It plays a critical role in reverse cholesterol transport, lipid metabolism, and has anti-inflammatory and antioxidant properties. Mutations in APOA1 are associated with HDL deficiency, Tangier disease, familial amyloidosis, and increased cardiovascular risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| HDL deficiency | Loss-of-function mutations reduce HDL levels and impair reverse cholesterol transport | OMIM #604091 |
| Tangier disease | Homozygous APOA1 mutations cause severe HDL deficiency and cholesterol accumulation in tissues | OMIM #205400 |
| Familial visceral amyloidosis | Missense mutations (e.g., p.Gly26Arg) lead to amyloid fibril formation | OMIM #105200 |
| Coronary artery disease | Low APOA1 levels are associated with increased atherosclerosis risk | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 1234.2 | High |
| Small intestine | 567.8 | High |
| Kidney | 45.6 | Low |
| Heart | 23.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 1234.2 | Hepatocyte cell line |
| Caco-2 | 567.8 | Intestinal epithelial cell line |
| THP-1 | 12.3 | Monocyte cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly26Arg | Missense | Rare | Amyloidogenic; causes familial visceral amyloidosis |
| p.Leu159Arg | Missense | Rare | Dominant negative; associated with HDL deficiency |
| p.Gln32X | Nonsense | Rare | Loss of function; Tangier disease phenotype |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein and HDL deficiency
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Missense mutations (e.g., p.Leu159Arg) that interfere with HDL assembly
View complete mutation data：
Gene Ontology (GO)
| • lipid transport | • cholesterol efflux |
| • high-density lipoprotein particle assembly | • reverse cholesterol transport |
| • lipoprotein particle binding |
Pathways
• HDL metabolism
• Reverse cholesterol transport
• Lipoprotein metabolism
Protein Summary
Apolipoprotein A1 is a 28.1 kDa protein composed of 267 amino acids. It forms the structural scaffold of HDL particles and activates lecithin-cholesterol acyltransferase (LCAT), facilitating cholesterol esterification and transport. The protein contains multiple amphipathic alpha-helices that mediate lipid binding and protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOA1 Knockout HEK293 Cell Line | EDJ-KQ1462 | Human | 335 | Details Get a Quote |
| APOA1 Knockout HeLa Cell Line | EDJ-KQ52629 | Human | 335 | Details Get a Quote |
| APOA1 Knockout A-549 Cell Line | EDJ-KQ61104 | Human | 335 | Details Get a Quote |
| APOA1 Knockout HCT 116 Cell Line | EDJ-KQ69591 | Human | 335 | Details Get a Quote |
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