Tbio FXN Frataxin, mitochondrial

Protein Classes

PANTHER Classes

Protein / Transporter / Cation Transporter / Frataxin, Mitochondrial

Protein / Transferase / Kinase / Frataxin, Mitochondrial

DTO Classes

Protein / Enzyme / Transferase / 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 variants. [provided by RefSeq, Jul 2016]

Uniprot Accession IDs

• Q16595
• A8MXJ6
• C9JJ89
• O15545
• O95656
• Q15294
• Q5VZ01

Gene Name

• FXN

Ensembl ID

• ENST00000396364
• ENSP00000379650
• ENSG00000165060
• ENST00000396366
• ENSP00000379652
• ENST00000484259
• ENSP00000419243
• ENST00000643639
• ENSP00000496143

Symbol

• FRDA
• X25
• FA
• X25
• CyaY
• FARR
• FRDA

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)

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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.

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GlyGen

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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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)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
Headache	HP_0002315	1	1	1		31.4
Agents acting on the renin-angiotensin system use measurement	EFO_0009931	1	1	1		20.5

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
Headache	HP_0002315	1		31.4
Agents acting on the renin-angiotensin system use measurement	EFO_0009931	1		20.5

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Orthologs (11)

1 – 5 of 11

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Macaque	frataxin		699469
Mouse	frataxin	MGI:1096879	14297
Rat	frataxin	RGD:1565754	499335
Dog	frataxin	VGNC:41018	609051
Horse	frataxin	VGNC:18162	100056887

Species	Name	OMA	EggNOG	Inparanoid
Macaque	frataxin
Mouse	frataxin
Rat	frataxin
Dog	frataxin
Horse	frataxin

Protein Structure (12 Structures, 1 AlphaFold Model)

Representation

  axes   backbone   ball+stick   cartoon   rocket   rope   spacefill

Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

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)

Reactome (4)

KEGG (1)

PathwayCommons (1)

Metabolism (R-HSA-1430728)

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Find Similar Targets

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1 – 4 of 4

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Metabolism	2112 targets	R-HSA-1430728
Reactome	Mitochondrial iron-sulfur cluster biogenesis	13 targets	R-HSA-1362409
Reactome	Mitochondrial protein import	65 targets	R-HSA-1268020
Reactome	Protein localization	165 targets	R-HSA-9609507

Name	Explore in Pharos	Explore in Source
Metabolism	2112 targets	R-HSA-1430728
Mitochondrial iron-sulfur cluster biogenesis	13 targets	R-HSA-1362409
Mitochondrial protein import	65 targets	R-HSA-1268020
Protein localization	165 targets	R-HSA-9609507

Gene Ontology Terms (35)

Functions (5)

Components (4)

Processes (26)

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GO Term	Evidence	Assigned by
2 iron, 2 sulfur cluster binding	Inferred from Direct Assay (IDA)	BHF-UCL
ferric iron binding	Inferred from Direct Assay (IDA)	BHF-UCL
ferrous iron binding	Inferred from Direct Assay (IDA)	BHF-UCL
ferroxidase activity	Inferred from Direct Assay (IDA)	UniProtKB
iron chaperone activity	Inferred from Direct Assay (IDA)	BHF-UCL

Protein-Protein Interactions (172)

Explore Interacting Targets

1 – 10 of 172

• See Interactions on String-DB

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

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PubTator Score  911.06

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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UniProt Keyword Find Similar Targets

3D-structure
Alternative splicing
Complete proteome
Cytoplasm
Direct protein sequencing
Disease mutation
Heme biosynthesis
Ion transport
Iron
Iron storage

GWAS Trait Find Similar Targets

Agents acting on the renin-angiotensin system use measurement
Headache

MGI Phenotype Find Similar Targets

behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
embryo phenotype
growth/size/body region phenotype
homeostasis/metabolism phenotype
immune system phenotype
mortality/aging
muscle phenotype
nervous system phenotype