FXN - Frataxin, mitochondrial - human protein (Function)
 
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FXN »  Frataxin, mitochondrial   [ EC 1.16.3.1 ]
 
Protein also known as:  Friedreich ataxia protein (Fxn). Cleaved into:  Frataxin intermediate form; Frataxin mature form; Frataxin(56-210); Frataxin(78-210).
Gene name:  FXN
Family name: Frataxin
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 118 3
GENE REF ISO

Function

 show evidences
Overview 
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.  
9
  • CuratedUniProtKB
According to TCDB this is a transporter from family:
the frataxin (frataxin) family  9.B.21.1.1  
GO molecular function 
2 iron, 2 sulfur cluster bindingdefinition[GO:0051537]  
1
  • IDABHF-UCL
Ferric iron bindingdefinition[GO:0008199]  
2
  • IDABHF-UCL
Ferrous iron bindingdefinition[GO:0008198]  
3
  • IDABHF-UCL
Ferroxidase activitydefinition[GO:0004322]  
1
  • IDAUniProtKB
Iron chaperone activitydefinition[GO:0034986]  
1
  • IDABHF-UCL
Iron-sulfur cluster bindingdefinition[GO:0051536]  
1
  • IDABHF-UCL
Protein bindingdefinition[GO:0005515]  
2
  • IPIUniProtKB
  • IPIBHF-UCL
GO biological process 
Adult walking behaviordefinition[GO:0007628] silver  
  • IEAOrtholog Compara
Aerobic respirationdefinition[GO:0009060] silver  
  • IEAOrtholog Compara
Cellular iron ion homeostasisdefinition[GO:0006879]  
1
  • IMPBHF-UCL
Cellular response to hydrogen peroxidedefinition[GO:0070301]  
1
  • IDAUniProtKB
Embryo development ending in birth or egg hatchingdefinition[GO:0009792] silver  
  • IEAOrtholog Compara
Heme biosynthetic processdefinition[GO:0006783]  
1
  • NASBHF-UCL
Ion transportdefinition[GO:0006811]  
  • IEAUniProtKB KW
Iron incorporation into metallo-sulfur clusterdefinition[GO:0018283]  
1
  • IDABHF-UCL
Mitochondrion organizationdefinition[GO:0007005] silver  
  • IEAOrtholog Compara
Negative regulation of apoptotic processdefinition[GO:0043066]  
1
  • IMPUniProtKB
Negative regulation of multicellular organism growthdefinition[GO:0040015] silver  
  • IEAOrtholog Compara
Negative regulation of organ growthdefinition[GO:0046621] silver  
  • IEAOrtholog Compara
Negative regulation of release of cytochrome c from mitochondriadefinition[GO:0090201]  
1
  • IMPUniProtKB
Oxidative phosphorylationdefinition[GO:0006119] silver  
  • IEAOrtholog Compara
Positive regulation of cell growthdefinition[GO:0030307]  
1
  • IMPBHF-UCL
Positive regulation of cell proliferationdefinition[GO:0008284]  
1
  • IMPBHF-UCL
Positive regulation of lyase activitydefinition[GO:0051349]  
2
  • IDAUniProtKB
  • IMPBHF-UCL
Positive regulation of metalloenzyme activitydefinition[GO:0048554]  
1
  • IMPBHF-UCL
Positive regulation of oxidoreductase activitydefinition[GO:0051353]  
1
  • IMPBHF-UCL
Positive regulation of transferase activitydefinition[GO:0051347]  
1
  • IMPBHF-UCL
Proprioceptiondefinition[GO:0019230] silver  
  • IEAOrtholog Compara
Protein autoprocessingdefinition[GO:0016540]  
1
  • IDABHF-UCL
Regulation of ferrochelatase activitydefinition[GO:0010722]  
1
  • IDABHF-UCL
Response to iron iondefinition[GO:0010039]  
1
  • IMPBHF-UCL
Enzymatic activity 
This protein acts as an enzyme. It is known to catalyze the following reaction
EC 1.16.3.1: 4 Fe(2+) + 4 H(+) + O(2) 4 Fe(3+) + 2 H(2)O.  
1
  • CuratedUniProtKB
Pathways 
According to Reactome, this protein belongs to the following pathways:
Mitochondrial iron-sulfur cluster biogenesis  REACT_150353  
Mitochondrial protein import  REACT_118595  
Note 
The unusual migration profile of mature frataxin on SDS-PAGE due to its acidic N-terminus most likely contributed to conflicting reports for the N-terminus of the mature protein. Unlike prokaryotic and yeast frataxin homologs, which self-assemble at high iron concentrations, oligomerization of human frataxin is not induced by iron. The existence of a specialized mitochondrial ferritin in mammalia (FTMT) is suggesting that iron storage would be redundant function, at least in mammalian mitochondria.  
  • CuratedUniProtKB
 

Keywords

Biological process 
Heme biosynthesis  definition   [KW-0350]
Ion transport  definition   [KW-0406]
Iron storage  definition   [KW-0409]
Iron transport  definition   [KW-0410]
Transport  definition   [KW-0813]
Molecular function 
Oxidoreductase  definition   [KW-0560]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

GeneWiki: Frataxin
GenomeRNAi: 2395
PRO: PR:Q16595