APOC1: Apolipoprotein C1
A key regulator of lipid metabolism and Alzheimer's disease risk
Gene Information Card
| Symbol | APOC1 |
|---|---|
| Full Name | Apolipoprotein C1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 341 ncbi.nlm.nih.gov/gene/341 |
| Ensembl ID | ENSG00000130208 |
| UniProt ID | P02654 |
| OMIM ID | 107710 |
| HGNC ID | 608 |
| Aliases | apo-CI, ApoC-I, apoC-I |
Description
APOC1 encodes apolipoprotein C1, a component of high-density lipoproteins (HDL) and very low-density lipoproteins (VLDL). It plays a role in lipid metabolism by inhibiting lipoprotein lipase and hepatic lipase, and by modulating the binding of apolipoprotein E to receptors. APOC1 is also implicated in Alzheimer's disease risk due to its proximity to the APOE gene and its effects on amyloid-beta clearance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | APOC1 variants (e.g., rs11568822) alter expression and influence amyloid-beta aggregation and clearance, often in linkage disequilibrium with APOE ε4. | ClinVar, NCBI |
| Hypertriglyceridemia | APOC1 overexpression inhibits lipoprotein lipase, leading to impaired triglyceride hydrolysis and elevated plasma triglycerides. | NCBI, OMIM |
| Apolipoprotein C1 deficiency | Rare loss-of-function mutations cause reduced HDL cholesterol and altered lipoprotein metabolism. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 124.3 | High |
| Adipose tissue | 45.2 | Medium |
| Lung | 12.1 | Low |
| Brain | 8.5 | Low |
| Kidney | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 152.0 | Hepatocellular carcinoma cell line |
| THP-1 | 18.4 | Monocytic cell line, differentiated |
| A549 | 9.7 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11568822 | SNP (promoter) | 0.15 (global) | Alters APOC1 expression; associated with Alzheimer's disease risk |
| c.1A>G (p.Met1?) | missense | <0.01 | Loss of function; linked to altered lipid profiles |
Mutation functional classification
Loss of Function (LOF)
Rare missense or nonsense variants that reduce APOC1 protein levels or activity, leading to altered lipoprotein metabolism.
Gain of Function (GOF)
Promoter variants (e.g., rs11568822) that increase APOC1 expression, potentially exacerbating hypertriglyceridemia.
Dominant Negative (DN)
Not reported for APOC1.
View complete mutation data：
Gene Ontology (GO)
| • lipid binding | • lipoprotein lipase inhibitor activity |
| • high-density lipoprotein particle | • chylomicron |
| • extracellular space | • lipid transport |
Pathways
• Lipoprotein metabolism (Reactome: R-HSA-174824)
• HDL-mediated lipid transport (Reactome: R-HSA-8964058)
• Alzheimer's disease (KEGG: hsa05010)
Protein Summary
Apolipoprotein C1 is a 6.6 kDa protein (57 amino acids) secreted primarily by the liver. It circulates on HDL and VLDL particles, where it inhibits lipoprotein lipase and hepatic lipase, thereby modulating triglyceride and cholesterol metabolism. APOC1 also interferes with APOE-mediated receptor binding, affecting clearance of remnant lipoproteins. Its expression is regulated by HNF4 and PPARα.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APOC1 Knockout HEK293 Cell Line | EDJ-KQ50124 | Human | 341 | Details Get a Quote |
| APOC1 Knockout HeLa Cell Line | EDJ-KQ52634 | Human | 341 | Details Get a Quote |
| APOC1 Knockout A-549 Cell Line | EDJ-KQ61109 | Human | 341 | Details Get a Quote |
| APOC1 Knockout HCT 116 Cell Line | EDJ-KQ69595 | Human | 341 | Details Get a Quote |
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