UniProt Accession

 FRDA_HUMAN; Q16595; A8MXJ6; C9JJ89; O15545; O95656; Q15294; Q5VZ01 

Genbank Protein ID

 U43747; U43752; U43748; U43749; U43750; U43751; U43753; U43748; U43749; U43750; U43751; AL162730; BC023633; BC048097; Y13751; AF028240; U93173 

Genbank Nucleotide ID

 AAA98510.1; AAA98508.1; AAA98508.1; AAA98508.1; AAA98508.1; AAA98508.1; AAA98509.1; AAA98509.1; AAA98509.1; AAA98509.1; AAA98509.1; CAH71829.1; AAH23633.1; AAH48097.1; CAA74077.1; AAB84047.1; AAD00734.1 

Protein Name

 Frataxin, mitochondrial 

Protein Synonyms/Alias

 Friedreich ataxia protein; Fxn; Frataxin intermediate form; i-FXN; Frataxin(56-210); m56-FXN; Frataxin(78-210); d-FXN; m78-FXN; Frataxin mature form; Frataxin(81-210); m81-FXN 

Gene Name

 FXN 

Gene Synonyms/Alias

 FRDA; X25 

Created Date

 July 27, 2013 

Organism

 Homo sapiens (Human) 

NCBI Taxa ID

 9606 

Lysine Modification

Position	Peptide	Type	References
197	LTKALKTKLDLSSLA	ubiquitination	[1, 2]

Reference

 [1] A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles.
 Wagner SA, Beli P, Weinert BT, Nielsen ML, Cox J, Mann M, Choudhary C.
 Mol Cell Proteomics. 2011 Oct;10(10):M111.013284. [PMID: 21890473]
 [2] hCKSAAP_UbSite: improved prediction of human ubiquitination sites by exploiting amino acid pattern and properties.
 Chen Z, Zhou Y, Song J, Zhang Z.
 Biochim Biophys Acta. 2013 Aug;1834(8):1461-7. [PMID: 23603789] 

Functional 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. 

Sequence Annotation

  

Keyword

 3D-structure; Alternative splicing; Complete proteome; Cytoplasm; Direct protein sequencing; Disease mutation; Heme biosynthesis; Ion transport; Iron; Iron storage; Iron transport; Metal-binding; Mitochondrion; Oxidoreductase; Polymorphism; Reference proteome; Transit peptide; Transport; Triplet repeat expansion. 

Sequence Source

 UniProt (SWISSPROT/TrEMBL); GenBank; EMBL 

Protein Length

 210 AA 

Protein Sequence

Gene Ontology

 GO:0005829; C:cytosol; IDA:BHF-UCL.
 GO:0005759; C:mitochondrial matrix; ISS:BHF-UCL.
 GO:0051537; F:2 iron, 2 sulfur cluster binding; IDA:BHF-UCL.
 GO:0008199; F:ferric iron binding; IDA:BHF-UCL.
 GO:0008198; F:ferrous iron binding; IDA:BHF-UCL.
 GO:0004322; F:ferroxidase activity; IDA:UniProtKB.
 GO:0034986; F:iron chaperone activity; IDA:BHF-UCL.
 GO:0007628; P:adult walking behavior; IEA:Compara.
 GO:0009060; P:aerobic respiration; IEA:Compara.
 GO:0006879; P:cellular iron ion homeostasis; IMP:BHF-UCL.
 GO:0070301; P:cellular response to hydrogen peroxide; IDA:UniProtKB.
 GO:0009792; P:embryo development ending in birth or egg hatching; IEA:Compara.
 GO:0006783; P:heme biosynthetic process; NAS:BHF-UCL.
 GO:0006811; P:ion transport; IEA:UniProtKB-KW.
 GO:0018283; P:iron incorporation into metallo-sulfur cluster; IDA:BHF-UCL.
 GO:0007005; P:mitochondrion organization; IEA:Compara.
 GO:0043066; P:negative regulation of apoptotic process; IMP:UniProtKB.
 GO:0040015; P:negative regulation of multicellular organism growth; IEA:Compara.
 GO:0046621; P:negative regulation of organ growth; IEA:Compara.
 GO:0090201; P:negative regulation of release of cytochrome c from mitochondria; IMP:UniProtKB.
 GO:0006119; P:oxidative phosphorylation; IEA:Compara.
 GO:0045773; P:positive regulation of axon extension; IEA:Compara.
 GO:0030307; P:positive regulation of cell growth; IMP:BHF-UCL.
 GO:0008284; P:positive regulation of cell proliferation; IMP:BHF-UCL.
 GO:0051349; P:positive regulation of lyase activity; IDA:UniProtKB.
 GO:0048554; P:positive regulation of metalloenzyme activity; IMP:BHF-UCL.
 GO:0051353; P:positive regulation of oxidoreductase activity; IMP:BHF-UCL.
 GO:0051347; P:positive regulation of transferase activity; IMP:BHF-UCL.
 GO:0019230; P:proprioception; IEA:Compara.
 GO:0016540; P:protein autoprocessing; IDA:BHF-UCL.
 GO:0010722; P:regulation of ferrochelatase activity; IDA:BHF-UCL.
 GO:0042493; P:response to drug; IEA:Compara.
 GO:0010039; P:response to iron ion; IMP:BHF-UCL.
 GO:0014070; P:response to organic cyclic compound; IEA:Compara.
 GO:0044281; P:small molecule metabolic process; TAS:Reactome. 

Interpro

 IPR017789; Frataxin.
 IPR002908; Frataxin/CyaY.
 IPR020895; Frataxin_CS. 

Pfam

 PF01491; Frataxin_Cyay 

SMART

  

PROSITE

 PS01344; FRATAXIN_1
 PS50810; FRATAXIN_2 

PRINTS

 PR00904; FRATAXIN.