• Gene id: 2395

Gene Summary

• Gene Symbol: FXN   Gene   UCSC   Ensembl
• Aliases: CyaY, FA, FARR, FRDA, X25
• Gene name: frataxin
• Alternate names: frataxin, mitochondrial, Friedreich ataxia protein,
• Gene location: 9q21.11 (69035751: 69079075)     Exons: 5     NC_000009.12
• Gene summary(Entrez): 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 r
• OMIM: 606829

Protein Summary

• Protein general information: Q16595  
  • Name: Frataxin, mitochondrial (EC 1.16.3.1) (Friedreich ataxia protein) (Fxn) [Cleaved into: 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)]
  • Length: 210  
  • Mass: 23135
  • Tissue specificity: Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts. {ECO
• Sequence:

  MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRTDIDATCTPRRASSNQRGLNQIWNVKKQSVYL
  MNLRKSGTLGHPGSLDETTYERLAEETLDSLAEFFEDLADKPYTFEDYDVSFGSGVLTVKLGGDLGTYVINKQTP
  NKQIWLSSPSSGPKRYDWTGKNWVYSHDGVSLHELLAAELTKALKTKLDLSSLAYSGKDA

• Structural information:
  • Interpro: IPR017789  IPR002908  IPR036524  IPR020895  
  • Prosite: PS01344 PS50810
  • PDB: 1EKG 1LY7 3S4M 3S5D 3S5E 3S5F 3T3J 3T3K 3T3L 3T3T 3T3X 5KZ5 6NZU
  • PDBsum: 1EKG 1LY7 3S4M 3S5D 3S5E 3S5F 3T3J 3T3K 3T3L 3T3T 3T3X 5KZ5 6NZU
  • STRING: ENSP00000366482
• Other Databases: GeneCards:  FXN  Malacards:  FXN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0008198	ferrous iron binding	IBA	molecular function
GO:0018283	iron incorporation into metallo-sulfur cluster	IBA	biological process
GO:0051537	2 iron, 2 sulfur cluster binding	IBA	molecular function
GO:0004322	ferroxidase activity	IBA	molecular function
GO:0006879	cellular iron ion homeostasis	IBA	biological process
GO:0007005	mitochondrion organization	IBA	biological process
GO:0008199	ferric iron binding	IBA	molecular function
GO:0034986	iron chaperone activity	IBA	molecular function
GO:0004322	ferroxidase activity	IDA	molecular function
GO:0070301	cellular response to hydrogen peroxide	IDA	biological process
GO:0051349	positive regulation of lyase activity	IDA	biological process
GO:0090201	negative regulation of release of cytochrome c from mitochondria	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004322	ferroxidase activity	IEA	molecular function
GO:0008199	ferric iron binding	IEA	molecular function
GO:0016226	iron-sulfur cluster assembly	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006783	heme biosynthetic process	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0055072	iron ion homeostasis	IEA	biological process
GO:0004322	ferroxidase activity	IEA	molecular function
GO:0016226	iron-sulfur cluster assembly	IDA	biological process
GO:1990221	L-cysteine desulfurase complex	IDA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0044281	small molecule metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019230	proprioception	IEA	biological process
GO:0016226	iron-sulfur cluster assembly	IEA	biological process
GO:0009060	aerobic respiration	IEA	biological process
GO:0007005	mitochondrion organization	IEA	biological process
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0046621	negative regulation of organ growth	IEA	biological process
GO:0040015	negative regulation of multicellular organism growth	IEA	biological process
GO:0009792	embryo development ending in birth or egg hatching	IEA	biological process
GO:0007628	adult walking behavior	IEA	biological process
GO:0006119	oxidative phosphorylation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:1904234	positive regulation of aconitate hydratase activity	IMP	biological process
GO:0008199	ferric iron binding	IDA	molecular function
GO:0008199	ferric iron binding	IDA	molecular function
GO:0034986	iron chaperone activity	IDA	molecular function
GO:0008198	ferrous iron binding	IDA	molecular function
GO:0008198	ferrous iron binding	IDA	molecular function
GO:0008198	ferrous iron binding	IDA	molecular function
GO:0051537	2 iron, 2 sulfur cluster binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0016540	protein autoprocessing	IDA	biological process
GO:0006879	cellular iron ion homeostasis	IMP	biological process
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0010722	regulation of ferrochelatase activity	IDA	biological process
GO:0018283	iron incorporation into metallo-sulfur cluster	IDA	biological process
GO:0005759	mitochondrial matrix	ISS	cellular component
GO:0005759	mitochondrial matrix	NAS	cellular component
GO:0006783	heme biosynthetic process	NAS	biological process
GO:0010039	response to iron ion	IMP	biological process
GO:0030307	positive regulation of cell growth	IMP	biological process
GO:0043085	positive regulation of catalytic activity	IMP	biological process
GO:1904231	positive regulation of succinate dehydrogenase activity	IMP	biological process
GO:0051349	positive regulation of lyase activity	IMP	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa00860	Porphyrin and chlorophyll metabolism

Diseases

Associated diseases	References
Friedreich ataxia	KEGG:H00067
Friedreich ataxia	KEGG:H00067
Friedreich ataxia	PMID:8596916
Friedreich ataxia	PMID:10543403
type 2 diabetes mellitus	PMID:9588463
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)