BOLA1: A Key Regulator of Iron-Sulfur Cluster Biogenesis and Cellular Iron Homeostasis
Comprehensive genomic, functional, and clinical overview of the BOLA1 gene
Gene Information Card
| Symbol | BOLA1 |
|---|---|
| Full Name | BolA family member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 51027 ncbi.nlm.nih.gov/gene/51027 |
| Ensembl ID | ENSG00000178096 |
| UniProt ID | Q9H3K6 |
| OMIM ID | 613182 |
| HGNC ID | 24279 |
| Aliases | BolA, CGI-143 |
Description
BOLA1 encodes a member of the BolA-like protein family, which is involved in iron-sulfur (Fe-S) cluster biogenesis and cellular iron homeostasis. The protein localizes to mitochondria and interacts with monothiol glutaredoxins to facilitate Fe-S cluster transfer to target proteins. BOLA1 is essential for mitochondrial function and redox balance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Iron-sulfur cluster deficiency | Impaired Fe-S cluster assembly due to BOLA1 loss-of-function | Inferred from functional studies (UniProt, NCBI) |
| Mitochondrial disorders | Disrupted mitochondrial iron homeostasis and oxidative phosphorylation | Predicted based on gene function (OMIM) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Heart | 8.2 | Low |
| Liver | 6.1 | Low |
| Brain | 5.3 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| K562 | 6.3 | Low expression |
| HepG2 | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of start codon, predicted loss of function |
| c.200C>T (p.Pro67Leu) | Missense | Rare | Unknown effect, not in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Impaired Fe-S cluster biogenesis leading to mitochondrial dysfunction
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • Iron-sulfur cluster assembly | • Mitochondrion |
| • Protein binding | • Metal ion binding |
Pathways
• Iron-sulfur cluster biogenesis
• Mitochondrial iron homeostasis
Protein Summary
BOLA1 is a 137-amino acid protein (15.6 kDa) localized to the mitochondrial matrix. It contains a conserved BolA domain that mediates interaction with glutaredoxin 3 (GLRX3) and other Fe-S cluster assembly factors. The protein is critical for the maturation of mitochondrial Fe-S proteins, including components of the respiratory chain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BOLA1 Knockout HEK293 Cell Line | EDJ-KQ10165 | Human | 51027 | Details Get a Quote |
| BOLA1 Knockout A-549 Cell Line | EDJ-KQ38567 | Human | 51027 | Details Get a Quote |
| BOLA1 Knockout HCT 116 Cell Line | EDJ-KQ38569 | Human | 51027 | Details Get a Quote |
| BOLA1 Knockout HeLa Cell Line | EDJ-KQ38570 | Human | 51027 | Details Get a Quote |
