ACOD1 (Aconitate Decarboxylase 1)
Key enzyme in itaconate biosynthesis and immunometabolism
Gene Information Card
| Symbol | ACOD1 |
|---|---|
| Full Name | Aconitate Decarboxylase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q22.3 |
| NCBI Gene ID | 730249 ncbi.nlm.nih.gov/gene/730249 |
| Ensembl ID | ENSG00000187608 |
| UniProt ID | Q8N5C8 |
| OMIM ID | 615898 |
| HGNC ID | 21436 |
| Aliases | IRG1, MyDGF, C13orf31 |
Description
ACOD1 (aconitate decarboxylase 1), also known as IRG1 (immune-responsive gene 1), encodes an enzyme that catalyzes the decarboxylation of cis-aconitate to itaconate, a key metabolite in the tricarboxylic acid (TCA) cycle. Itaconate has anti-inflammatory and antimicrobial properties, and ACOD1 is highly induced in macrophages upon immune stimulation. The gene is located on chromosome 13q22.3 and is primarily expressed in immune cells and tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory diseases (e.g., sepsis, rheumatoid arthritis) | ACOD1-derived itaconate modulates inflammation by inhibiting succinate dehydrogenase and activating Nrf2 | PMID: 27098604 |
| Bacterial infections (e.g., Salmonella, Mycobacterium tuberculosis) | Itaconate inhibits isocitrate lyase in bacteria, impairing glyoxylate shunt and bacterial growth | PMID: 23602711 |
| Cancer (e.g., melanoma, lung cancer) | ACOD1 expression may influence tumor microenvironment via itaconate-mediated immune modulation | PMID: 31570799 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | High |
| Spleen | 8.3 | Medium |
| Lung | 5.1 | Medium |
| Liver | 2.0 | Low |
| Whole blood | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.2 | High after LPS stimulation |
| U937 (macrophage) | 10.8 | High after PMA differentiation |
| HeLa (cervical) | 0.5 | Low baseline |
| A549 (lung) | 1.2 | Low baseline |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.424C>T (p.Arg142Cys) | Missense | <0.01% | Unknown functional impact |
| c.788G>A (p.Arg263His) | Missense | <0.01% | Potential loss of enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg263His) may reduce decarboxylase activity, impairing itaconate production.
Gain of Function (GOF)
No gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • GO:0047769 (aconitate decarboxylase activity) | • GO:0005739 (mitochondrion) |
| • GO:0042742 (defense response to bacterium) | • GO:0055114 (oxidation-reduction process) |
| • GO:0006954 (inflammatory response) |
Pathways
• Tricarboxylic acid (TCA) cycle
• Itaconate biosynthesis
• Immune response (NF-κB
• Nrf2 signaling)
Protein Summary
ACOD1 is a mitochondrial enzyme of 479 amino acids (55 kDa) that converts cis-aconitate to itaconate. It is highly expressed in activated macrophages and plays a critical role in immunometabolism by linking the TCA cycle to anti-inflammatory and antimicrobial responses. The protein structure includes a conserved aconitase-like domain, and its activity is regulated at the transcriptional level by immune stimuli such as LPS and IFN-γ.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACOD1 Knockout HEK293 Cell Line | EDJ-KQ2918 | Human | 730249 | Details Get a Quote |
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