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Tbio
FXN
Frataxin, mitochondrial

Protein Summary
Description
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
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000396364
  • ENSP00000379650
  • ENSG00000165060
  • ENST00000396366
  • ENSP00000379652
  • ENST00000484259
  • ENSP00000419243
  • ENST00000643639
  • ENSP00000496143

Symbol
  • FRDA
  • X25
  • FA
  • X25
  • CyaY
  • FARR
  • FRDA
Illumination Graph
Knowledge Table
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


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

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: 1391.37   (req: < 5)
Gene RIFs: 140   (req: <= 3)
Antibodies: 547   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1391.37   (req: >= 5)
Gene RIFs: 140   (req: > 3)
Antibodies: 547   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 31
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (2)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Headache
1
1
1
31.4
Agents acting on the renin-angiotensin system use measurement
1
1
1
20.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Headache
1
31.4
Agents acting on the renin-angiotensin system use measurement
1
20.5
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
Species
Name
OMA
EggNOG
Inparanoid
Macaque
frataxin
Mouse
Rat
Dog
frataxin
Horse
frataxin
Protein Structure (12 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q16595-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 12
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (6)
Metabolism (R-HSA-1430728)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
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
Protein-Protein Interactions (172)
1 – 10 of 172
LYRM4
Tbio
Novelty: 0.03319832
Score: 0.997
Data Source: Reactome,STRINGDB
ISCU
Tbio
Novelty: 0.0043097
Score: 0.997
Data Source: Reactome,STRINGDB
NFS1
Tbio
Family: Enzyme
Novelty: 0.01274706
Score: 0.996
Data Source: Reactome,STRINGDB
PMPCB
Tbio
Family: Enzyme
Novelty: 0.0244013
Score: 0.994
Data Source: STRINGDB
HSCB
Tbio
Novelty: 0.01330125
Score: 0.993
Data Source: STRINGDB
ACO2
Tbio
Family: Enzyme
Novelty: 0.00276725
Score: 0.991
Data Source: STRINGDB
FECH
Tbio
Family: Enzyme
Novelty: 0.00282289
Score: 0.988
Data Source: STRINGDB
HSPA9
Tbio
Novelty: 0.00235171
Score: 0.987
Data Source: STRINGDB
FDX2
Tdark
Novelty: 0.05747769
Score: 0.981
Data Source: STRINGDB
FDX1
Tbio
Novelty: 0.00124491
Score: 0.978
Data Source: STRINGDB
Publication Statistics
PubMed Score  1391.37

PubMed score by year
PubTator Score  911.06

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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