InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FXN

Summary

InnateDB Protein

IDBP-69242.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FXN

Protein Name

frataxin

Synonyms

CyaY; FA; FARR; FRDA; X25;

Species

Homo sapiens

Ensembl Protein

ENSP00000366482

InnateDB Gene

IDBG-69240 (FXN)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:12785837, ECO:0000269PubMed:15247478, ECO:0000269PubMed:15641778, ECO:0000269PubMed:16239244, ECO:0000269PubMed:16608849, ECO:0000269PubMed:20053667}.

Subcellular Localization

Cytoplasm. Mitochondrion. Note=PubMed:18725397 reports localization exclusively in mitochondria.

Disease Associations

Friedreich ataxia (FRDA) [MIM:229300]: Autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region. {ECO:0000269PubMed:10732799, ECO:0000269PubMed:10874325, ECO:0000269PubMed:9150176, ECO:0000269PubMed:9779809, ECO:0000269PubMed:9989622, ECO:0000269Ref.34, ECO:0000269Ref.7, ECO:0000269Ref.8}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts. {ECO:0000269PubMed:17468497}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	6 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004322	ferroxidase activity
GO:0005515	protein binding
GO:0008198	ferrous iron binding
GO:0008199	ferric iron binding
GO:0034986	iron chaperone activity
GO:0051536	iron-sulfur cluster binding
GO:0051537	2 iron, 2 sulfur cluster binding

Biological Process

GO:0006119	oxidative phosphorylation
GO:0006783	heme biosynthetic process
GO:0006811	ion transport
GO:0006879	cellular iron ion homeostasis
GO:0007005	mitochondrion organization
GO:0007628	adult walking behavior
GO:0008284	positive regulation of cell proliferation
GO:0009060	aerobic respiration
GO:0009792	embryo development ending in birth or egg hatching
GO:0010039	response to iron ion
GO:0010722	regulation of ferrochelatase activity
GO:0016226	iron-sulfur cluster assembly
GO:0016540	protein autoprocessing
GO:0018283	iron incorporation into metallo-sulfur cluster
GO:0019230	proprioception
GO:0030307	positive regulation of cell growth
GO:0040015	negative regulation of multicellular organism growth
GO:0043066	negative regulation of apoptotic process
GO:0044281	small molecule metabolic process
GO:0046621	negative regulation of organ growth
GO:0048554	positive regulation of metalloenzyme activity
GO:0051347	positive regulation of transferase activity
GO:0051349	positive regulation of lyase activity
GO:0051353	positive regulation of oxidoreductase activity
GO:0055114	oxidation-reduction process
GO:0070301	cellular response to hydrogen peroxide
GO:0090201	negative regulation of release of cytochrome c from mitochondria