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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CIAO3
cytosolic iron-sulfur assembly component 3
Chromosome 16 · 16p13.3
NCBI Gene: 64428Ensembl: ENSG00000103245.15HGNC: HGNC:14179UniProt: Q9H6Q4
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingresponse to hypoxiaregulation of gene expressioniron-sulfur cluster assemblyatrial fibrillationheart failurePulmonary arteriovenous malformationpathological myopia
✦AI Summary

CIAO3 (cytosolic iron-sulfur assembly component 3) is a core component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) complex that mediates incorporation of [4Fe-4S] clusters into extramitochondrial Fe/S proteins 1. CIAO3 forms a stable ternary complex with CIA2A and CIAO1, with its C-terminal [4Fe-4S] cluster playing a structural role in this interaction 1. The protein negatively regulates HIF-1α expression through the Fe-S cluster assembly pathway 2. Mechanistically, CIAO3 deficiency disrupts CIA complex assembly, impairing Fe-S cluster transfer to client proteins. This causes functional conversion of cytosolic aconitase to iron regulatory protein 1, leading to iron overload, oxidative stress, and suppression of anti-ferroptotic defenses 3. CIAO3 knockout in mice causes mid-gestational embryonic lethality due to impaired vascular development and endothelial dysfunction 3. Clinically, CIAO3 mutations cause diffuse pulmonary arteriovenous malformations (dPAVMs) associated with VEGF overexpression and iron accumulation 4. CIAO3 deficiency in endothelial cells triggers acute lung injury through immune activation, with TNF-α playing a central role and macrophages as key effector cells 5. Polymorphisms in NARFL (the CIAO3 ortholog) confer susceptibility to vascular and neurodegenerative disorders 3, positioning CIAO3 as critical for maintaining endothelial health and vascular homeostasis.

Sources cited
1
CIAO3 forms stable ternary complex with CIA2A and CIAO1, with structural role for C-terminal [4Fe-4S] cluster
PMID: 32222833
2
CIAO3/NARFL deficiency triggers ferroptosis-driven vascular endothelial dysfunction through disrupted CIA complex assembly and iron overload; knockout causes embryonic lethality with vascular defects
PMID: 41319277
3
IOP1/NARFL negatively regulates HIF-1α levels by modulating mRNA expression
PMID: 16956324
4
NARFL mutations cause diffuse pulmonary arteriovenous malformations with iron overload and VEGF overexpression
PMID: 27835862
5
CIAO3 knockout in endothelial cells causes acute lung injury through immune activation with TNF-α and macrophages as key mediators
PMID: 41187899
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.20Weak
heart failureOpen Targets
0.16Weak
Pulmonary arteriovenous malformationOpen Targets
0.12Weak
myopiaOpen Targets
0.11Weak
pathological myopiaOpen Targets
0.11Weak
bone fractureOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.04Suggestive
whooping coughOpen Targets
0.03Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.03Suggestive
infectionOpen Targets
0.02Suggestive
attention deficit hyperactivity disorderOpen Targets
0.02Suggestive
tetanusOpen Targets
0.02Suggestive
substance abuseOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
esophageal diseaseOpen Targets
0.02Suggestive
multiple sclerosisOpen Targets
0.02Suggestive
risk-taking behaviourOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
hemangiomaOpen Targets
0.01Suggestive
scrapieOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CIAO1Protein interaction100%MMS19Protein interaction100%CIAO2BProtein interaction99%CIAO2AProtein interaction99%NUBP1Protein interaction96%CIAPIN1Protein interaction90%
Tissue Expression6 tissues
Liver
100%
Heart
66%
Lung
61%
Ovary
57%
Bone Marrow
50%
Brain
40%
Gene Interaction Network
Click a node to explore
CIAO3CIAO1MMS19CIAO2BCIAO2ANUBP1CIAPIN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H6Q4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.14LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.70–1.14]
RankingsWhere CIAO3 stands among ~20K protein-coding genes
  • #10,755of 20,598
    Most Researched36
  • #11,830of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedCIAO3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
NARFL Knockout Triggers Ferroptosis-Driven Vascular Endothelial Dysfunction.
PMID: 41319277
Adv Sci (Weinh) · 2026
1.00
2
CIAO3 protein forms a stable ternary complex with two key players of the human cytosolic iron-sulfur cluster assembly machinery.
PMID: 32222833
J Biol Inorg Chem · 2020
0.90
3
Ciao3 knockout causes acute lung injury through immune activation using single cell sequencing.
PMID: 41187899
Life Sci · 2025
0.80
4
NARFL deficiency caused mitochondrial dysfunction in lung cancer cells by HIF-1α-DNMT1 axis.
PMID: 37821486
Sci Rep · 2023
0.70
5
Human ISCA1 interacts with IOP1/NARFL and functions in both cytosolic and mitochondrial iron-sulfur protein biogenesis.
PMID: 19864422
J Biol Chem · 2009
0.60