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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACO1
aconitase 1
Chromosome 9 · 9p21.1
NCBI Gene: 48Ensembl: ENSG00000122729.20HGNC: HGNC:117UniProt: P21399
121PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulumextracellular exosomeaconitate hydratase activityprotein bindingcorneal neovascularizationdiabetic ketoacidosissmoking initiationmale infertility
✦AI Summary

ACO1 encodes aconitase 1 (also known as iron regulatory protein 1, IRP1), a dual-function protein that serves as a critical regulator of cellular iron homeostasis. Under low iron conditions, ACO1 functions as an RNA-binding protein that binds to iron-responsive elements (IREs) in mRNAs, regulating the translation of iron metabolism proteins 12. When cellular iron levels are high, ACO1 binds a 4Fe-4S cluster and functions as an aconitase enzyme in the citrate cycle, catalyzing the isomerization of citrate to isocitrate. ACO1 plays a significant role in ferroptosis regulation, where its downregulation can sensitize cells to this iron-dependent form of cell death 324. In hepatocellular carcinoma, ENO1 suppresses ACO1 expression by recruiting CNOT6 to accelerate ACO1 mRNA decay, leading to inhibition of mitochondrial iron transport and ferroptosis resistance 2. Genetic variants in ACO1 have major effects on hemoglobin concentration and erythropoiesis, with loss-of-function mutations associated with decreased hemoglobin and increased anemia risk 1. ACO1 expression is frequently altered in various cancers and may serve as a diagnostic biomarker, particularly in diffuse large B-cell lymphoma and thyroid-associated orbitopathy 54.

Sources cited
1
ACO1 variants have major effects on hemoglobin concentration and erythropoiesis
PMID: 32327693
2
ENO1 suppresses ACO1 expression by recruiting CNOT6 to accelerate mRNA decay, affecting ferroptosis
PMID: 35121990
3
ACO1 is involved in ferroptosis regulation in rheumatoid arthritis
PMID: 37492576
4
ACO1 downregulation in thyroid-associated orbitopathy and its diagnostic potential
PMID: 39735537
5
ACO1 identified as biomarker candidate in diffuse large B-cell lymphoma
PMID: 39488307
Disease Associationsⓘ20
corneal neovascularizationOpen Targets
0.28Weak
diabetic ketoacidosisOpen Targets
0.28Weak
smoking initiationOpen Targets
0.25Weak
male infertilityOpen Targets
0.24Weak
eye diseaseOpen Targets
0.24Weak
heart valve prosthesisOpen Targets
0.23Weak
restless legs syndromeOpen Targets
0.21Weak
type 2 diabetes mellitusOpen Targets
0.20Weak
attention deficit hyperactivity disorderOpen Targets
0.20Weak
smoking behaviorOpen Targets
0.20Weak
substance abuseOpen Targets
0.20Weak
ArthropathyOpen Targets
0.19Weak
pneumothoraxOpen Targets
0.19Weak
complicationOpen Targets
0.19Weak
hemorrhageOpen Targets
0.19Weak
hypotensionOpen Targets
0.18Weak
liver diseaseOpen Targets
0.18Weak
knee fractureOpen Targets
0.17Weak
ovarian neoplasmOpen Targets
0.17Weak
pleural empyemaOpen Targets
0.17Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CSProtein interaction100%FBXL5Protein interaction100%IDH2Protein interaction100%IDH3AProtein interaction100%IDH1Protein interaction100%IDH3BProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
58%
Ovary
21%
Lung
21%
Brain
18%
Bone Marrow
6%
Gene Interaction Network
Click a node to explore
ACO1CSFBXL5IDH2IDH3AIDH1IDH3B
PROTEIN STRUCTURE
Preparing viewer…
PDB2B3Y · 1.85 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.84LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.68 [0.56–0.84]
RankingsWhere ACO1 stands among ~20K protein-coding genes
  • #3,872of 20,598
    Most Researched121 · top quartile
  • #7,211of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedACO1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of potential ferroptosis-associated biomarkers in rheumatoid arthritis.
PMID: 37492576
Front Immunol · 2023
1.00
2
ENO1 suppresses cancer cell ferroptosis by degrading the mRNA of iron regulatory protein 1.
PMID: 35121990
Nat Cancer · 2022
0.90
3
Autophagy induced by mechanical stress sensitizes cells to ferroptosis by NCOA4-FTH1 axis.
PMID: 39988734
Autophagy · 2025
0.80
4
Identification of ferroptosis-related genes associated with diffuse large B-cell lymphoma via bioinformatics and machine learning approaches.
PMID: 39488307
Int J Biol Macromol · 2024
0.70
5
Identification and verification of the optimal feature genes of ferroptosis in thyroid-associated orbitopathy.
PMID: 39735537
Front Immunol · 2024
0.60