AOC3 (Amine Oxidase, Copper Containing 3)
Vascular adhesion protein-1 (VAP-1) - a copper-dependent amine oxidase with roles in inflammation, glucose metabolism, and cancer.
Gene Information Card
| Symbol | AOC3 |
|---|---|
| Full Name | Amine Oxidase, Copper Containing 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 8639 ncbi.nlm.nih.gov/gene/8639 |
| Ensembl ID | ENSG00000131471 |
| UniProt ID | Q16853 |
| OMIM ID | 603735 |
| HGNC ID | 548 |
| Aliases | VAP-1, HPAO, SSAO, VAP1 |
Description
The AOC3 gene encodes vascular adhesion protein-1 (VAP-1), a copper-dependent amine oxidase that catalyzes the oxidative deamination of primary amines to aldehydes, producing hydrogen peroxide and ammonia. VAP-1 functions both as an adhesion molecule mediating leukocyte rolling and transmigration, and as an enzyme modulating glucose metabolism and vascular tone. It is expressed on endothelial cells, smooth muscle cells, and adipocytes. AOC3 is implicated in inflammatory diseases, diabetic complications, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetic retinopathy | Increased AOC3 expression leads to elevated SSAO activity, promoting retinal vascular leakage and inflammation via hydrogen peroxide production. | ClinVar, PMID: 25687214 |
| Systemic sclerosis (scleroderma) | Upregulated VAP-1 on endothelial cells enhances leukocyte adhesion and fibrosis. | OMIM 603735, PMID: 22922725 |
| Non-alcoholic fatty liver disease (NAFLD) | AOC3 activity correlates with hepatic inflammation and fibrosis; inhibition reduces steatosis. | UniProt Q16853, PMID: 26364729 |
| Cancer (melanoma, breast, ovarian) | VAP-1 expression on tumor vasculature facilitates immune evasion and metastasis. | COSMIC, PMID: 29227476 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Lung | 6.1 | Low |
| Small intestine | 4.7 | Low |
| Heart | 2.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 15.2 | High expression; used as positive control |
| HepG2 (hepatocellular) | 9.8 | Moderate; reflects liver expression |
| A549 (lung carcinoma) | 3.1 | Low; consistent with lung tissue |
| MCF7 (breast cancer) | 1.5 | Very low; not a major site |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1601G>A (p.Arg534His) | Missense | 0.001% (gnomAD) | Reduced catalytic activity; associated with altered adhesion |
| c.1129C>T (p.Arg377Cys) | Missense | 0.0005% | Loss of copper binding; decreased enzyme function |
| c.1966_1968del (p.Lys656del) | In-frame deletion | 0.0002% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
p.Arg377Cys disrupts copper coordination, reducing amine oxidase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in AOC3.
Dominant Negative (DN)
p.Arg534His may interfere with dimerization, reducing overall VAP-1 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Amine oxidase pathway (Reactome: R-HSA-2024096)
• Leukocyte transendothelial migration (KEGG: hsa04670)
• Adhesion and diapedesis of granulocytes (WikiPathways: WP509)
Protein Summary
VAP-1 (AOC3) is a 763-amino-acid homodimeric transmembrane glycoprotein with a large extracellular domain containing a copper-binding site and a topaquinone cofactor. It catalyzes the oxidative deamination of primary amines, generating hydrogen peroxide and aldehydes that modulate vascular tone and inflammation. The protein also mediates leukocyte adhesion independently of its enzymatic activity. VAP-1 is a therapeutic target for inflammatory diseases and diabetic complications.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AOC3 Knockout HEK293 Cell Line | EDJ-KQ6315 | Human | 8639 | Details Get a Quote |
| AOC3 Knockout A-549 Cell Line | EDJ-KQ28922 | Human | 8639 | Details Get a Quote |
| AOC3 Knockout HCT 116 Cell Line | EDJ-KQ30235 | Human | 8639 | Details Get a Quote |
| AOC3 Knockout HeLa Cell Line | EDJ-KQ54964 | Human | 8639 | Details Get a Quote |
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