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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BOLA1
bolA family member 1
Chromosome 1 · 1q21.2
NCBI Gene: 51027Ensembl: ENSG00000178096.10HGNC: HGNC:24263UniProt: Q9Y3E2
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrioniron-sulfur cluster assemblycell redox homeostasisAbnormality of the skeletal systemtype 2 diabetes mellitusaortic stenosishemoglobin D disease
✦AI Summary

BOLA1 (bolA family member 1) is a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates Fe-S cluster insertion into mitochondrial proteins. BOLA1 forms [2Fe-2S] cluster-bridged heterodimeric complexes with the monothiol glutaredoxin GLRX5 1, functioning as a redox-regulatory protein rather than a cluster trafficking factor 2. The BOLA1-GLRX5 complex coordinates reduced, Rieske-type [2Fe-2S] clusters with preferential formation over alternative complexes 1. BOLA1 protects cells against oxidative stress by maintaining mitochondrial thiol redox potential and preventing morphology aberrations induced by glutathione depletion 3. BOLA1 dysregulation associates with multiple diseases. In hepatocellular carcinoma, elevated BOLA1 expression correlates with worse pathological grades, advanced TNM stages, and reduced overall survival 4. Similarly, in kidney renal clear cell carcinoma, high BOLA1 expression with gene hypomethylation predicts shorter survival and reduced relapse-free survival 5. Notably, Mendelian randomization analysis identified BOLA1 as a secondary mitochondrial-related gene associated with hyperuricemia risk 6. BOLA1 thus serves as both a critical Fe-S biogenesis factor and an emerging prognostic biomarker in malignancy.

Sources cited
1
BOLA1 forms [2Fe-2S] cluster-bridged heterodimeric complexes with GLRX5 that coordinate reduced, Rieske-type [2Fe-2S] clusters
PMID: 28483642
2
BOLA1-GLRX5 complex functions in redox regulation rather than cluster trafficking; cannot donate clusters to acceptor proteins
PMID: 32542995
3
BOLA1 is a mitochondrial protein that prevents mitochondrial morphology changes and maintains thiol redox potential under oxidative stress
PMID: 22746225
4
BOLA1 expression is elevated in hepatocellular carcinoma and correlates with worse pathological grade, TNM stage, and reduced overall survival
PMID: 36017386
5
BOLA1 is upregulated and hypomethylated in kidney renal clear cell carcinoma; high expression predicts shorter overall and relapse-free survival
PMID: 39510574
6
BOLA1 identified as secondary mitochondrial-related gene associated with hyperuricemia risk through multi-omics Mendelian randomization analysis
PMID: 40697080
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.44Moderate
type 2 diabetes mellitusOpen Targets
0.07Suggestive
aortic stenosisOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
attention deficit hyperactivity disorderOpen Targets
0.04Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.04Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.04Suggestive
hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeOpen Targets
0.04Suggestive
schizophrenia 15Open Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
dominant beta-thalassemiaOpen Targets
0.03Suggestive
Phelan-McDermid syndromeOpen Targets
0.03Suggestive
ghosal hematodiaphyseal dysplasiaOpen Targets
0.03Suggestive
menopauseOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
theileriasisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ISCA2Protein interaction98%ISCA1Protein interaction98%BOLA3Protein interaction90%LIASProtein interaction85%NFU1Protein interaction85%CIAPIN1Protein interaction84%
Tissue Expression6 tissues
Liver
100%
Ovary
60%
Brain
56%
Heart
54%
Lung
44%
Bone Marrow
22%
Gene Interaction Network
Click a node to explore
BOLA1ISCA2ISCA1BOLA3LIASNFU1CIAPIN1
PROTEIN STRUCTURE
Preparing viewer…
PDB5LCI · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.65LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.87 [0.47–1.65]
RankingsWhere BOLA1 stands among ~20K protein-coding genes
  • #11,294of 20,598
    Most Researched33
  • #15,900of 17,882
    Most Constrained (LOEUF)1.65
Genes detectedBOLA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Multi-omics study of mitochondrial dysfunction in the pathogenesis of hyperuricemia.
PMID: 40697080
Ren Fail · 2025
1.00
2
Prognostic Values of BolA Family Member Expression in Hepatocellular Carcinoma.
PMID: 36017386
Biomed Res Int · 2022
0.90
3
Structural insights into the molecular function of human [2Fe-2S] BOLA1-GRX5 and [2Fe-2S] BOLA3-GRX5 complexes.
PMID: 28483642
Biochim Biophys Acta Gen Subj · 2017
0.80
4
Adaptation of the late ISC pathway in the anaerobic mitochondrial organelles of Giardia intestinalis.
PMID: 37792908
PLoS Pathog · 2023
0.70
5
BOLA family genes are the drivers and potential biomarkers of survival in kidney renal clear cell carcinoma patients.
PMID: 39510574
Saudi Med J · 2024
0.60