FXN
Frataxin, mitochondrial
Protein Summary
Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1. This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript ...more
- ENST00000396364
- ENSP00000379650
- ENSG00000165060
- ENST00000396366
- ENSP00000379652
- ENST00000484259
- ENSP00000419243
- ENST00000643639
- ENSP00000496143
- FRDA
- X25
- FA
- X25
- CyaY
- FARR
- FRDA
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
biological process | 0.99 | ||
biological term | 0.9 | ||
disease perturbation | 0.9 | ||
transcription factor binding site profile | 0.85 | ||
transcription factor perturbation | 0.8 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 1420.96 (req: < 5)
Gene RIFs: 140 (req: <= 3)
Antibodies: 547 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 1420.96 (req: >= 5)
Gene RIFs: 140 (req: > 3)
Antibodies: 547 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 31
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
Related Tools
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (172)
Nearest Tclin Targets
Pathways (6)
Reactome (4)
KEGG (1)
PathwayCommons (1)
Click on a row in the table to change the structure displayed.
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
Reactome | Metabolism | ||||
Reactome | Mitochondrial iron-sulfur cluster biogenesis | ||||
Reactome | Mitochondrial protein import | ||||
Reactome | Protein localization | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Metabolism | ||||
Mitochondrial iron-sulfur cluster biogenesis | ||||
Mitochondrial protein import | ||||
Protein localization | ||||
Viral Interactions (0)
Gene Ontology Terms (35)
Functions (5)
Components (4)
Processes (26)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Direct Assay (IDA) | BHF-UCL | |||
Inferred from Direct Assay (IDA) | BHF-UCL | |||
Inferred from Direct Assay (IDA) | BHF-UCL | |||
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Direct Assay (IDA) | BHF-UCL | |||
Disease Associations ()
GWAS Traits (6)
Items per page:
1 – 5 of 6
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
Myopia | 2 | 2 | 0 | 5.3 | 86.1 | ||||
age at onset | 1 | 1 | 0 | 9.5 | 74.2 | ||||
refractive error measurement | 2 | 1 | 2 | 9.5 | 74.2 | ||||
Abnormality of refraction | 1 | 1 | 1 | 27.3 | |||||
Agents acting on the renin-angiotensin system use measurement | 1 | 1 | 1 | 8.9 | |||||
Items per page:
1 – 5 of 6
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
Myopia | 0 | 5.3 | 86.1 | ||||
age at onset | 0 | 9.5 | 74.2 | ||||
refractive error measurement | 2 | 9.5 | 74.2 | ||||
Abnormality of refraction | 1 | 27.3 | |||||
Agents acting on the renin-angiotensin system use measurement | 1 | 8.9 | |||||
Find similar targets by:
IDG Resources
Orthologs (11)
1 – 5 of 11
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Macaque | frataxin | 699469 | ||||||
Mouse | MGI:1096879 | 14297 | ||||||
Rat | RGD:1565754 | 499335 | ||||||
Dog | frataxin | VGNC:41018 | 609051 | |||||
Horse | frataxin | VGNC:18162 | 100056887 | |||||
Publication Statistics
PubMed Score 1420.96
PubMed score by year
PubTator Score 911.06
PubTator score by year
Related Publications
Text Mined References (176)
GeneRif Annotations (140)
Items per page:
0 of 0
PMID | Year | Title |
|---|