Frataxin, mitochondrial

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityⁱ

• 4 Fe²⁺

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  + 4 H⁺

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  + O₂

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  = 4 Fe³⁺

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  + 2 H₂O

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  EC:1.16.3.1
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  Source: Rhea

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  4

  Fe²⁺

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  zoom

  +

  4

  H⁺

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  +

  O₂

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  =

  4

  Fe³⁺

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  zoom

  +

  2

  H₂O

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<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• 2 iron, 2 sulfur cluster binding Source: MGI
• enzyme binding Source: MGI
• ferric iron binding Source: MGI
• ferrous iron binding Source: MGI
• ferroxidase activity Source: MGI
• iron chaperone activity Source: MGI

GO - Biological processⁱ

• adult walking behavior Source: MGI <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia."
    Simon D., Seznec H., Gansmuller A., Carelle N., Weber P., Metzger D., Rustin P., Koenig M., Puccio H.
    J Neurosci 24:1987-1995(2004) [PubMed] [Europe PMC] [Abstract]
  • "Hypertension, cardiac hypertrophy, and sudden death in mice lacking natriuretic peptide receptor A."
    Oliver P.M., Fox J.E., Kim R., Rockman H.A., Kim H.S., Reddick R.L., Pandey K.N., Milgram S.L., Smithies O., Maeda N.
    Proc. Natl. Acad. Sci. U.S.A. 94:14730-14735(1997) [PubMed] [Europe PMC] [Abstract]
• aerobic respiration Source: MGIInferred from mutant phenotypeⁱ
  • "Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice."
    Thierbach R., Schulz T.J., Isken F., Voigt A., Mietzner B., Drewes G., von Kleist-Retzow J.C., Wiesner R.J., Magnuson M.A., Puccio H., Pfeiffer A.F., Steinberg P., Ristow M.
    Hum Mol Genet 14:3857-3864(2005) [PubMed] [Europe PMC] [Abstract]
  • "Hypertension, cardiac hypertrophy, and sudden death in mice lacking natriuretic peptide receptor A."
    Oliver P.M., Fox J.E., Kim R., Rockman H.A., Kim H.S., Reddick R.L., Pandey K.N., Milgram S.L., Smithies O., Maeda N.
    Proc. Natl. Acad. Sci. U.S.A. 94:14730-14735(1997) [PubMed] [Europe PMC] [Abstract]
• cellular iron ion homeostasis Source: MGIInferred from mutant phenotypeⁱ
  • "Hypertension, cardiac hypertrophy, and sudden death in mice lacking natriuretic peptide receptor A."
    Oliver P.M., Fox J.E., Kim R., Rockman H.A., Kim H.S., Reddick R.L., Pandey K.N., Milgram S.L., Smithies O., Maeda N.
    Proc. Natl. Acad. Sci. U.S.A. 94:14730-14735(1997) [PubMed] [Europe PMC] [Abstract]
• cellular response to hydrogen peroxide Source: MGI
• embryo development ending in birth or egg hatching Source: MGIInferred from mutant phenotypeⁱ
  • "Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation."
    Cossee M., Puccio H., Gansmuller A., Koutnikova H., Dierich A., LeMeur M., Fischbeck K., Dolle P., Koenig M.
    Hum Mol Genet 9:1219-1226(2000) [PubMed] [Europe PMC] [Abstract]
• heme biosynthetic process Source: UniProtKB-KW
• ion transport Source: UniProtKB-KW
• iron incorporation into metallo-sulfur cluster Source: MGI
• iron-sulfur cluster assembly Source: MGIInferred from mutant phenotypeⁱ
  • "Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice."
    Thierbach R., Schulz T.J., Isken F., Voigt A., Mietzner B., Drewes G., von Kleist-Retzow J.C., Wiesner R.J., Magnuson M.A., Puccio H., Pfeiffer A.F., Steinberg P., Ristow M.
    Hum Mol Genet 14:3857-3864(2005) [PubMed] [Europe PMC] [Abstract]
  • Ref.3

    "Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues."
    Martelli A., Wattenhofer-Donze M., Schmucker S., Bouvet S., Reutenauer L., Puccio H.
    Hum. Mol. Genet. 16:2651-2658(2007) [PubMed] [Europe PMC] [Abstract]

    Cited for: SUBCELLULAR LOCATION.
• mitochondrion organization Source: MGIInferred from mutant phenotypeⁱ
  • "Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia."
    Simon D., Seznec H., Gansmuller A., Carelle N., Weber P., Metzger D., Rustin P., Koenig M., Puccio H.
    J Neurosci 24:1987-1995(2004) [PubMed] [Europe PMC] [Abstract]
  • "Hypertension, cardiac hypertrophy, and sudden death in mice lacking natriuretic peptide receptor A."
    Oliver P.M., Fox J.E., Kim R., Rockman H.A., Kim H.S., Reddick R.L., Pandey K.N., Milgram S.L., Smithies O., Maeda N.
    Proc. Natl. Acad. Sci. U.S.A. 94:14730-14735(1997) [PubMed] [Europe PMC] [Abstract]
• negative regulation of apoptotic process Source: MGI
• negative regulation of multicellular organism growth Source: MGIInferred from mutant phenotypeⁱ
  • "Reduced expression of mitochondrial frataxin in mice exacerbates diet-induced obesity."
    Pomplun D., Voigt A., Schulz T.J., Thierbach R., Pfeiffer A.F., Ristow M.
    Proc Natl Acad Sci U S A 104:6377-6381(2007) [PubMed] [Europe PMC] [Abstract]
• negative regulation of organ growth Source: MGIInferred from mutant phenotypeⁱ
  • "Hypertension, cardiac hypertrophy, and sudden death in mice lacking natriuretic peptide receptor A."
    Oliver P.M., Fox J.E., Kim R., Rockman H.A., Kim H.S., Reddick R.L., Pandey K.N., Milgram S.L., Smithies O., Maeda N.
    Proc. Natl. Acad. Sci. U.S.A. 94:14730-14735(1997) [PubMed] [Europe PMC] [Abstract]
• negative regulation of release of cytochrome c from mitochondria Source: MGI
• oxidative phosphorylation Source: MGIInferred from mutant phenotypeⁱ
  • "Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice."
    Thierbach R., Schulz T.J., Isken F., Voigt A., Mietzner B., Drewes G., von Kleist-Retzow J.C., Wiesner R.J., Magnuson M.A., Puccio H., Pfeiffer A.F., Steinberg P., Ristow M.
    Hum Mol Genet 14:3857-3864(2005) [PubMed] [Europe PMC] [Abstract]
  • "Reduced expression of mitochondrial frataxin in mice exacerbates diet-induced obesity."
    Pomplun D., Voigt A., Schulz T.J., Thierbach R., Pfeiffer A.F., Ristow M.
    Proc Natl Acad Sci U S A 104:6377-6381(2007) [PubMed] [Europe PMC] [Abstract]
• positive regulation of aconitate hydratase activity Source: MGI
• positive regulation of axon extension Source: MGI
• positive regulation of catalytic activity Source: MGI
• positive regulation of cell growth Source: MGI
• positive regulation of cell population proliferation Source: MGI
• positive regulation of lyase activity Source: MGI
• positive regulation of succinate dehydrogenase activity Source: MGI
• proprioception Source: MGIInferred from mutant phenotypeⁱ
  • "Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits."
    Puccio H., Simon D., Cossee M., Criqui-Filipe P., Tiziano F., Melki J., Hindelang C., Matyas R., Rustin P., Koenig M.
    Nat Genet 27:181-186(2001) [PubMed] [Europe PMC] [Abstract]
  • "Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia."
    Simon D., Seznec H., Gansmuller A., Carelle N., Weber P., Metzger D., Rustin P., Koenig M., Puccio H.
    J Neurosci 24:1987-1995(2004) [PubMed] [Europe PMC] [Abstract]
• protein autoprocessing Source: MGI
• regulation of ferrochelatase activity Source: MGI
• response to iron ion Source: MGI

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

Keywords - Cellular componentⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>This subsection of the 'Pathology and Biotech' section describes the in vivo effects caused by ablation of the gene (or one or more transcripts) coding for the protein described in the entry. This includes gene knockout and knockdown, provided experiments have been performed in the context of a whole organism or a specific tissue, and not at the single-cell level.<p><a href='/help/disruption_phenotype' target='_top'>More...</a></p>Disruption phenotypeⁱ

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationⁱ

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stageⁱ

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

GO - Molecular functionⁱ

• enzyme binding Source: MGI

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)ⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

        10         20         30         40         50
MWAFGGRAAV GLLPRTASRA SAWVGNPRWR EPIVTCGRRG LHVTVNAGAT 
        60         70         80         90        100
RHAHLNLHYL QILNIKKQSV CVVHLRNLGT LDNPSSLDET AYERLAEETL 
       110        120        130        140        150
DSLAEFFEDL ADKPYTLEDY DVSFGDGVLT IKLGGDLGTY VINKQTPNKQ 
       160        170        180        190        200
IWLSSPSSGP KRYDWTGKNW VYSHDGVSLH ELLARELTKA LNTKLDLSSL 

AYSGKGT                                                

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 100% Identity
• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. MGD cross-references
   Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
2. SIMILARITY comments
   Index of protein domains and families