UniProtKB - O35943 (FRDA_MOUSE)
Protein
Frataxin, mitochondrial
Gene
Fxn
Organism
Mus musculus (Mouse)
Status
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).By similarity1 Publication
Catalytic activityi
- EC:1.16.3.1
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
- aerobic respiration Source: MGI
- cellular iron ion homeostasis Source: MGI
- cellular response to hydrogen peroxide Source: MGI
- embryo development ending in birth or egg hatching Source: MGI
- heme biosynthetic process Source: UniProtKB-KW
- ion transport Source: UniProtKB-KW
- iron incorporation into metallo-sulfur cluster Source: MGI
- iron-sulfur cluster assembly Source: MGI
- mitochondrion organization Source: MGI
- negative regulation of apoptotic process Source: MGI
- negative regulation of multicellular organism growth Source: MGI
- negative regulation of organ growth Source: MGI
- negative regulation of release of cytochrome c from mitochondria Source: MGI
- oxidative phosphorylation Source: MGI
- 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: MGI
- protein autoprocessing Source: MGI
- regulation of ferrochelatase activity Source: MGI
- response to iron ion Source: MGI
Keywordsi
Molecular function | Oxidoreductase |
Biological process | Heme biosynthesis, Ion transport, Iron storage, Iron transport, Transport |
Ligand | Iron, Metal-binding |
Enzyme and pathway databases
Reactomei | R-MMU-1268020 Mitochondrial protein import R-MMU-1362409 Mitochondrial iron-sulfur cluster biogenesis |
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 |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:1096879 Fxn |
Subcellular locationi
Mitochondrion
- Mitochondrion 2 Publications
Cytosol
- cytosol By similarity
Note: PubMed:17597094 describes localization exclusively in mitochondria.
Cytosol
- cytosol Source: MGI
- L-cysteine desulfurase complex Source: MGI
Mitochondrion
- mitochondrion Source: MGI
Keywords - Cellular componenti
Cytoplasm, MitochondrionPathology & Biotechi
Disruption phenotypei
Loss of cell division and lethal in fibroblasts.1 Publication
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 40 | MitochondrionBy similarityAdd BLAST | 40 | |
ChainiPRO_0000010132 | 41 – 207 | Frataxin intermediate formAdd BLAST | 167 | |
ChainiPRO_0000399390 | 78 – 207 | Frataxin mature formBy similarityAdd BLAST | 130 |
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).By similarity
Proteomic databases
EPDi | O35943 |
jPOSTi | O35943 |
PaxDbi | O35943 |
PeptideAtlasi | O35943 |
PRIDEi | O35943 |
PTM databases
iPTMneti | O35943 |
PhosphoSitePlusi | O35943 |
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 remnant of the ventricular zone. Weak expression seen in the spinal cord and medulla oblongata, starting at 14.5 dpc and expression also observed in dorsal root ganglia, starting at 14.5 dpc. 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 10.5 dpc. Expression detected in the heart and in the cortex of the developing kidney at 12.5 dpc and later. Very high expression observed in the brown adipose tissue. Expression seen in small islands around the neck and back at 14.5 dpc, then in large masses at 16.5 dpc and 18.5 dpc and at P14 is absent in brown adipose tissue. Expression also seen in the thymus and developing gut at 14.5 dpc 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 14.5 dpc.1 Publication
Gene expression databases
Bgeei | ENSMUSG00000059363 Expressed in 99 organ(s), highest expression level in quadriceps femoris |
ExpressionAtlasi | O35943 baseline and differential |
Genevisiblei | O35943 MM |
Interactioni
Subunit structurei
Monomer (probable predominant form). Oligomer (PubMed:11823441). 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).By similarity1 Publication
GO - Molecular functioni
- enzyme binding Source: MGI
Protein-protein interaction databases
IntActi | O35943, 2 interactors |
MINTi | O35943 |
STRINGi | 10090.ENSMUSP00000080081 |
Family & Domainsi
Sequence similaritiesi
Belongs to the frataxin family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG3413 Eukaryota COG1965 LUCA |
GeneTreei | ENSGT00390000005811 |
HOGENOMi | HOG000190729 |
HOVERGENi | HBG005745 |
InParanoidi | O35943 |
KOi | K19054 |
OMAi | KQSVCLM |
OrthoDBi | 1372185at2759 |
PhylomeDBi | O35943 |
TreeFami | TF318958 |
Family and domain databases
Gene3Di | 3.30.920.10, 1 hit |
InterProi | View protein in InterPro IPR017789 Frataxin IPR002908 Frataxin/CyaY IPR036524 Frataxin/CyaY_sf IPR020895 Frataxin_CS |
PANTHERi | PTHR16821 PTHR16821, 1 hit |
Pfami | View protein in Pfam PF01491 Frataxin_Cyay, 1 hit |
PRINTSi | PR00904 FRATAXIN |
SMARTi | View protein in SMART SM01219 Frataxin_Cyay, 1 hit |
TIGRFAMsi | TIGR03421 FeS_CyaY, 1 hit TIGR03422 mito_frataxin, 1 hit |
PROSITEi | View protein in PROSITE PS01344 FRATAXIN_1, 1 hit PS50810 FRATAXIN_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
O35943-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketE9Q2P9 | E9Q2P9_MOUSE | Frataxin, mitochondrial | Fxn | 145 | Annotation score: |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U95736 mRNA Translation: AAB67778.1 |
CCDSi | CCDS29711.1 |
RefSeqi | NP_032070.1, NM_008044.2 |
UniGenei | Mm.7319 |
Genome annotation databases
Ensembli | ENSMUST00000081333; ENSMUSP00000080081; ENSMUSG00000059363 |
GeneIDi | 14297 |
KEGGi | mmu:14297 |
UCSCi | uc008hao.1 mouse |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi 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 |
ModBasei | Search... |
MobiDBi | Search... |
Protein-protein interaction databases
IntActi | O35943, 2 interactors |
MINTi | O35943 |
STRINGi | 10090.ENSMUSP00000080081 |
PTM databases
iPTMneti | O35943 |
PhosphoSitePlusi | O35943 |
Proteomic databases
EPDi | O35943 |
jPOSTi | O35943 |
PaxDbi | O35943 |
PeptideAtlasi | 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 | KOG3413 Eukaryota COG1965 LUCA |
GeneTreei | ENSGT00390000005811 |
HOGENOMi | HOG000190729 |
HOVERGENi | HBG005745 |
InParanoidi | O35943 |
KOi | K19054 |
OMAi | KQSVCLM |
OrthoDBi | 1372185at2759 |
PhylomeDBi | O35943 |
TreeFami | TF318958 |
Enzyme and pathway databases
Reactomei | R-MMU-1268020 Mitochondrial protein import R-MMU-1362409 Mitochondrial iron-sulfur cluster biogenesis |
Miscellaneous databases
PROi | PR:O35943 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSMUSG00000059363 Expressed in 99 organ(s), highest expression level in quadriceps femoris |
ExpressionAtlasi | O35943 baseline and differential |
Genevisiblei | O35943 MM |
Family and domain databases
Gene3Di | 3.30.920.10, 1 hit |
InterProi | View protein in InterPro IPR017789 Frataxin IPR002908 Frataxin/CyaY IPR036524 Frataxin/CyaY_sf IPR020895 Frataxin_CS |
PANTHERi | PTHR16821 PTHR16821, 1 hit |
Pfami | View protein in Pfam PF01491 Frataxin_Cyay, 1 hit |
PRINTSi | PR00904 FRATAXIN |
SMARTi | View protein in SMART SM01219 Frataxin_Cyay, 1 hit |
TIGRFAMsi | TIGR03421 FeS_CyaY, 1 hit TIGR03422 mito_frataxin, 1 hit |
PROSITEi | View protein in PROSITE PS01344 FRATAXIN_1, 1 hit PS50810 FRATAXIN_2, 1 hit |
ProtoNeti | Search... |
Entry informationi
Entry namei | FRDA_MOUSE | |
Accessioni | O35943Primary (citable) accession number: O35943 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1999 |
Last sequence update: | January 1, 1998 | |
Last modified: | February 13, 2019 | |
This is version 143 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
Complete proteome, Reference proteomeDocuments
- SIMILARITY comments
Index of protein domains and families - MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot