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O35943

- FRDA_MOUSE

UniProt

O35943 - FRDA_MOUSE

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Protein

Frataxin, mitochondrial

Gene
Fxn, Frda
Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe2+ 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 Fe2+ to Fe3+; 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. Modulates the RNA-binding activity of ACO1 By similarity.1 Publication

Catalytic activityi

4 Fe2+ + 4 H+ + O2 = 4 Fe3+ + 2 H2O.

GO - Molecular functioni

  1. 2 iron, 2 sulfur cluster binding Source: Ensembl
  2. ferric iron binding Source: InterPro
  3. ferrous iron binding Source: Ensembl
  4. ferroxidase activity Source: UniProtKB-EC
  5. iron chaperone activity Source: Ensembl

GO - Biological processi

  1. adult walking behavior Source: MGI
  2. aerobic respiration Source: MGI
  3. cellular iron ion homeostasis Source: MGI
  4. cellular response to hydrogen peroxide Source: Ensembl
  5. embryo development ending in birth or egg hatching Source: MGI
  6. heme biosynthetic process Source: UniProtKB-KW
  7. ion transport Source: UniProtKB-KW
  8. iron incorporation into metallo-sulfur cluster Source: Ensembl
  9. iron-sulfur cluster assembly Source: MGI
  10. mitochondrion organization Source: MGI
  11. negative regulation of apoptotic process Source: Ensembl
  12. negative regulation of multicellular organism growth Source: MGI
  13. negative regulation of organ growth Source: MGI
  14. negative regulation of release of cytochrome c from mitochondria Source: Ensembl
  15. oxidative phosphorylation Source: MGI
  16. positive regulation of cell growth Source: Ensembl
  17. positive regulation of cell proliferation Source: Ensembl
  18. positive regulation of lyase activity Source: Ensembl
  19. positive regulation of metalloenzyme activity Source: Ensembl
  20. positive regulation of oxidoreductase activity Source: Ensembl
  21. positive regulation of transferase activity Source: Ensembl
  22. proprioception Source: MGI
  23. protein autoprocessing Source: Ensembl
  24. regulation of ferrochelatase activity Source: Ensembl
  25. response to iron ion Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Heme biosynthesis, Ion transport, Iron storage, Iron transport, Transport

Keywords - Ligandi

Iron, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_199053. Mitochondrial iron-sulfur cluster biogenesis.
REACT_199101. Mitochondrial protein import.

Names & Taxonomyi

Protein namesi
Recommended name:
Frataxin, mitochondrial (EC:1.16.3.1)
Short name:
Fxn
Cleaved into the following 2 chains:
Gene namesi
Name:Fxn
Synonyms:Frda
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 19

Organism-specific databases

MGIiMGI:1096879. Fxn.

Subcellular locationi

Cytoplasm By similarity. Mitochondrion
Note: 1 Publication describes localization exclusively in mitochondria.2 Publications

GO - Cellular componenti

  1. cytosol Source: Ensembl
  2. mitochondrion Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

Pathology & Biotechi

Disruption phenotypei

Loss of cell division and lethal in fibroblasts.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4040Mitochondrion By similarityAdd
BLAST
Chaini41 – 207167Frataxin intermediate formPRO_0000010132Add
BLAST
Chaini78 – 207130Frataxin mature form By similarityPRO_0000399390Add
BLAST

Post-translational modificationi

Processed in two steps by mitochondrial processing peptidase (MPP). MPP first cleaves the precursor to intermediate form and subsequently converts the intermediate to yield frataxin mature form By similarity.

Proteomic databases

MaxQBiO35943.
PaxDbiO35943.
PRIDEiO35943.

PTM databases

PhosphoSiteiO35943.

Expressioni

Tissue specificityi

Heart, liver, skeletal muscle, kidney, spleen and thymus. Weakly expressed in the brain and lung.1 Publication

Developmental stagei

Expression in the ventricular zone which corresponds to dividing neuronal precursors begins at day 12.5, increases during embryonic development and persists at postnatal day 7 (P7) in the ependymal layer, which is the remenant of the ventricular zone. Weak expression seen in the spinal cord and medulla oblongata, starting at embryonic day 14.5 (E14.5) and expression also observed in dorsal root ganglia, starting at E14.5. At P14, expression in the dorsal root ganglia is restricted to the cortical region where the sensory neuron cell bodies are located. In non-neural tissues strong expression seen in the developing liver from E10.5. Expression detected in the heart and in the cortex of the developing kidney at E12.5 and later. Very high expression observed in the brown adipose tissue. Expression seen in small islands around the neck and back at E14.5, then in large masses at E16.5 and E18.5 and at P14 is absent in brown adipose tissue. Expression also seen in the thymus and developing gut at E14.5 and until postnatal life. At P14, expression in thymus is restricted to the proliferating cells in the cortical zone and is also prominent in the spleen. Found in the lung at E14.5.1 Publication

Gene expression databases

ArrayExpressiO35943.
BgeeiO35943.
CleanExiMM_FXN.
GenevestigatoriO35943.

Interactioni

Subunit structurei

Monomer (probable predominant form). Oligomer. Interacts with LYRM4 AND HSPA9. Interacts with ACO1. Interacts with ISCU. Interacts with FECH; one iron-bound FXN monomer seems to interact with a FECH homodimer. Interacts with SDHA and SDHB. Interacts with ACO2; the interaction is dependent on citrate By similarity.1 Publication

Protein-protein interaction databases

IntActiO35943. 2 interactions.
MINTiMINT-1847605.

Structurei

3D structure databases

ProteinModelPortaliO35943.
SMRiO35943. Positions 86-205.

Family & Domainsi

Sequence similaritiesi

Belongs to the frataxin family.

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG1965.
HOGENOMiHOG000190729.
HOVERGENiHBG005745.
InParanoidiO35943.
OMAiKQSVCLM.
OrthoDBiEOG7HHWVD.
PhylomeDBiO35943.
TreeFamiTF318958.

Family and domain databases

Gene3Di3.30.920.10. 1 hit.
InterProiIPR017789. Frataxin.
IPR002908. Frataxin/CyaY.
IPR020895. Frataxin_CS.
[Graphical view]
PANTHERiPTHR16821. PTHR16821. 1 hit.
PfamiPF01491. Frataxin_Cyay. 1 hit.
[Graphical view]
PRINTSiPR00904. FRATAXIN.
SUPFAMiSSF55387. SSF55387. 1 hit.
TIGRFAMsiTIGR03421. FeS_CyaY. 1 hit.
TIGR03422. mito_frataxin. 1 hit.
PROSITEiPS01344. FRATAXIN_1. 1 hit.
PS50810. FRATAXIN_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

O35943-1 [UniParc]FASTAAdd to Basket

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MWAFGGRAAV GLLPRTASRA SAWVGNPRWR EPIVTCGRRG LHVTVNAGAT    50
RHAHLNLHYL QILNIKKQSV CVVHLRNLGT LDNPSSLDET AYERLAEETL 100
DSLAEFFEDL ADKPYTLEDY DVSFGDGVLT IKLGGDLGTY VINKQTPNKQ 150
IWLSSPSSGP KRYDWTGKNW VYSHDGVSLH ELLARELTKA LNTKLDLSSL 200
AYSGKGT 207
Length:207
Mass (Da):22,924
Last modified:January 1, 1998 - v1
Checksum:iC46FD21B44FB26A2
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U95736 mRNA. Translation: AAB67778.1.
CCDSiCCDS29711.1.
RefSeqiNP_032070.1. NM_008044.2.
UniGeneiMm.7319.

Genome annotation databases

EnsembliENSMUST00000081333; ENSMUSP00000080081; ENSMUSG00000059363.
GeneIDi14297.
KEGGimmu:14297.
UCSCiuc008hao.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U95736 mRNA. Translation: AAB67778.1 .
CCDSi CCDS29711.1.
RefSeqi NP_032070.1. NM_008044.2.
UniGenei Mm.7319.

3D structure databases

ProteinModelPortali O35943.
SMRi O35943. Positions 86-205.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi O35943. 2 interactions.
MINTi MINT-1847605.

PTM databases

PhosphoSitei O35943.

Proteomic databases

MaxQBi O35943.
PaxDbi O35943.
PRIDEi O35943.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000081333 ; ENSMUSP00000080081 ; ENSMUSG00000059363 .
GeneIDi 14297.
KEGGi mmu:14297.
UCSCi uc008hao.1. mouse.

Organism-specific databases

CTDi 2395.
MGIi MGI:1096879. Fxn.

Phylogenomic databases

eggNOGi COG1965.
HOGENOMi HOG000190729.
HOVERGENi HBG005745.
InParanoidi O35943.
OMAi KQSVCLM.
OrthoDBi EOG7HHWVD.
PhylomeDBi O35943.
TreeFami TF318958.

Enzyme and pathway databases

Reactomei REACT_199053. Mitochondrial iron-sulfur cluster biogenesis.
REACT_199101. Mitochondrial protein import.

Miscellaneous databases

NextBioi 285709.
PROi O35943.
SOURCEi Search...

Gene expression databases

ArrayExpressi O35943.
Bgeei O35943.
CleanExi MM_FXN.
Genevestigatori O35943.

Family and domain databases

Gene3Di 3.30.920.10. 1 hit.
InterProi IPR017789. Frataxin.
IPR002908. Frataxin/CyaY.
IPR020895. Frataxin_CS.
[Graphical view ]
PANTHERi PTHR16821. PTHR16821. 1 hit.
Pfami PF01491. Frataxin_Cyay. 1 hit.
[Graphical view ]
PRINTSi PR00904. FRATAXIN.
SUPFAMi SSF55387. SSF55387. 1 hit.
TIGRFAMsi TIGR03421. FeS_CyaY. 1 hit.
TIGR03422. mito_frataxin. 1 hit.
PROSITEi PS01344. FRATAXIN_1. 1 hit.
PS50810. FRATAXIN_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. "Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin."
    Koutnikova H., Campuzano V., Foury F., Dolle P., Cazzalini O., Koenig M.
    Nat. Genet. 16:345-351(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    Tissue: Embryo.
  2. "Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia."
    Cavadini P., O'Neill H.A., Benada O., Isaya G.
    Hum. Mol. Genet. 11:217-227(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT.
  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.
  4. "The in vivo mitochondrial two-step maturation of human frataxin."
    Schmucker S., Argentini M., Carelle-Calmels N., Martelli A., Puccio H.
    Hum. Mol. Genet. 17:3521-3531(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEOLYTIC PROCESSING.
  5. "The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia."
    Calmels N., Schmucker S., Wattenhofer-Donze M., Martelli A., Vaucamps N., Reutenauer L., Messaddeq N., Bouton C., Koenig M., Puccio H.
    PLoS ONE 4:E6379-E6379(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISRUPTION PHENOTYPE.
  6. "Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant."
    Huang M.L., Becker E.M., Whitnall M., Rahmanto Y.S., Ponka P., Richardson D.R.
    Proc. Natl. Acad. Sci. U.S.A. 106:16381-16386(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.

Entry informationi

Entry nameiFRDA_MOUSE
AccessioniPrimary (citable) accession number: O35943
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 1, 1998
Last modified: September 3, 2014
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

External Data

Dasty 3

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