Entity Details

Primary name FRDA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ16595
EntryNameFRDA_HUMAN
FullNameFrataxin, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length210
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesFXN

GO terms

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GOName
GO:0004322 ferroxidase activity
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
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:0008198 ferrous iron binding
GO:0008199 ferric iron binding
GO:0008284 positive regulation of cell population 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:0034986 iron chaperone activity
GO:0040015 negative regulation of multicellular organism growth
GO:0043066 negative regulation of apoptotic process
GO:0043085 positive regulation of catalytic activity
GO:0046621 negative regulation of organ growth
GO:0051349 positive regulation of lyase activity
GO:0051537 2 iron, 2 sulfur cluster binding
GO:0070301 cellular response to hydrogen peroxide
GO:0090201 negative regulation of release of cytochrome c from mitochondria
GO:1904231 positive regulation of succinate dehydrogenase activity
GO:1904234 positive regulation of aconitate hydratase activity
GO:1990221 L-cysteine desulfurase complex

Subcellular Location

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Subcellular Location
Cytoplasm
Mitochondrion

Domains

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DomainNameCategoryType
IPR002908 Frataxin/CyaYFamilyFamily
IPR017789 FrataxinFamilyFamily
IPR020895 Frataxin conserved siteSiteConserved site
IPR036524 Frataxin/CyaY superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
229300 OMIMFriedreich ataxia (FRDA)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB01592 IronDrugbanksmall molecule
DB14488 Ferrous gluconateDrugbanksmall molecule
DB14489 Ferrous succinateDrugbanksmall molecule
DB14490 Ferrous ascorbateDrugbanksmall molecule
DB14491 Ferrous fumarateDrugbanksmall molecule
DB14501 Ferrous glycine sulfateDrugbanksmall molecule