| Identification |
|---|
| HMDB Protein ID
| CDBP02147 |
| Secondary Accession Numbers
| Not Available |
| Name
| Frataxin, mitochondrial |
| Description
| Not Available |
| Synonyms
|
- Frataxin intermediate form
- Frataxin mature form
- Frataxin(56-210)
- Frataxin(78-210)
- Frataxin(81-210)
- Friedreich ataxia protein
- Fxn
- d-FXN
- i-FXN
- m56-FXN
- m78-FXN
- m81-FXN
|
| Gene Name
| FXN |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in cellular iron ion homeostasis |
| Specific 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.
|
| GO Classification
|
| Biological Process |
| response to organic cyclic compound |
| positive regulation of transferase activity |
| positive regulation of oxidoreductase activity |
| proprioception |
| protein autoprocessing |
| aerobic respiration |
| regulation of ferrochelatase activity |
| cellular response to hydrogen peroxide |
| heme biosynthetic process |
| response to iron ion |
| positive regulation of cell proliferation |
| negative regulation of apoptotic process |
| response to drug |
| positive regulation of axon extension |
| ion transport |
| embryo development ending in birth or egg hatching |
| iron incorporation into metallo-sulfur cluster |
| cellular iron ion homeostasis |
| negative regulation of multicellular organism growth |
| adult walking behavior |
| negative regulation of organ growth |
| positive regulation of cell growth |
| negative regulation of release of cytochrome c from mitochondria |
| mitochondrion organization |
| oxidative phosphorylation |
| positive regulation of metalloenzyme activity |
| positive regulation of lyase activity |
| Cellular Component |
| cytosol |
| mitochondrial matrix |
| Component |
| mitochondrion |
| organelle |
| membrane-bounded organelle |
| intracellular membrane-bounded organelle |
| Molecular Function |
| ferrous iron binding |
| ferric iron binding |
| iron chaperone activity |
| 2 iron, 2 sulfur cluster binding |
| ferroxidase activity |
| Process |
| regulation of biological quality |
| homeostatic process |
| chemical homeostasis |
| ion homeostasis |
| cellular ion homeostasis |
| cellular cation homeostasis |
| cellular di-, tri-valent inorganic cation homeostasis |
| cellular iron ion homeostasis |
| biological regulation |
|
| Cellular Location
|
- Cytoplasm
- Mitochondrion
|
| Pathways
|
Not Available
|
| Gene Properties |
|---|
| Chromosome Location
| 9 |
| Locus
| 9q21.11 |
| SNPs
| FXN |
| Gene Sequence
|
>633 bp
ATGTGGACTCTCGGGCGCCGCGCAGTAGCCGGCCTCCTGGCGTCACCCAGCCCAGCCCAG
GCCCAGACCCTCACCCGGGTCCCGCGGCCGGCAGAGTTGGCCCCACTCTGCGGCCGCCGT
GGCCTGCGCACCGACATCGATGCGACCTGCACGCCCCGCCGCGCAAGTTCGAACCAACGT
GGCCTCAACCAGATTTGGAATGTCAAAAAGCAGAGTGTCTATTTGATGAATTTGAGGAAA
TCTGGAACTTTGGGCCACCCAGGCTCTCTAGATGAGACCACCTATGAAAGACTAGCAGAG
GAAACGCTGGACTCTTTAGCAGAGTTTTTTGAAGACCTTGCAGACAAGCCATACACGTTT
GAGGACTATGATGTCTCCTTTGGGAGTGGTGTCTTAACTGTCAAACTGGGTGGAGATCTA
GGAACCTATGTGATCAACAAGCAGACGCCAAACAAGCAAATCTGGCTATCTTCTCCATCC
AGTGGACCTAAGCGTTATGACTGGACTGGGAAAAACTGGGTGTACTCCCACGACGGCGTG
TCCCTCCATGAGCTGCTGGCCGCAGAGCTCACTAAAGCCTTAAAAACCAAACTGGACTTG
TCTTCCTTGGCCTATTCCGGAAAAGATGCTTGA
|
| Protein Properties |
|---|
| Number of Residues
| 210 |
| Molecular Weight
| 23134.895 |
| Theoretical pI
| 8.687 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Frataxin, mitochondrial
MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRTDIDATCTPRRASSNQR
GLNQIWNVKKQSVYLMNLRKSGTLGHPGSLDETTYERLAEETLDSLAEFFEDLADKPYTF
EDYDVSFGSGVLTVKLGGDLGTYVINKQTPNKQIWLSSPSSGPKRYDWTGKNWVYSHDGV
SLHELLAAELTKALKTKLDLSSLAYSGKDA
|
| External Links |
|---|
| GenBank ID Protein
| 31077081 |
| UniProtKB/Swiss-Prot ID
| Q16595 |
| UniProtKB/Swiss-Prot Entry Name
| FRDA_HUMAN |
| PDB IDs
|
|
| GenBank Gene ID
| NM_000144.4 |
| GeneCard ID
| FXN |
| GenAtlas ID
| FXN |
| HGNC ID
| HGNC:3951 |
| References |
|---|
| General References
| Not Available |