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IPR017789 is a Frataxin.
<p>Frataxin is a mitochondrial protein, mutation of which leads to the disease Friedreich's ataxia [[cite:PUB00005550]]. Its orthologs are widely distributed in the bacteria, associated with the ISC system for iron-sulphur cluster assembly, and designated CyaY. Friedreich's ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the gene encoding frataxin (FRDA). Frataxin mRNA is predominantly expressed in tissues with a high metabolic rate (including liver, kidney, brown fat and heart). Mouse and yeast frataxin homologues contain a potential N-terminal mitochondrial targeting sequence, and human frataxin has been observed to co-localise with a mitochondrial protein. Furthermore, disruption of the yeast gene has been shown to result in mitochondrial dysfunction. Friedreich's ataxia is thus believed to be a mitochondrial disease caused by a mutation in the nuclear genome (specifically, expansion of an intronic GAA triplet repeat) [[cite:PUB00005217], [cite:PUB00004328], [cite:PUB00003904]].</p>
This description is obtained from EB-eye REST.
GO predictions are based solely on the InterPro-to-GO mappings published by EMBL-EBI, which are in turn based on the mapping of predicted domains to the InterPro dataset. The InterPro-to-GO mapping was last updated on , while the GO metadata was last updated on .
| GO term | Namespace | Name | Definition | Relationships |
|---|---|---|---|---|
| Molecular function | Ferroxidase activity | Catalysis of the reaction: 4 Fe2+ + 4 H+ + O2 = 4 Fe3+ + 2 H2O. | ||
| Cellular component | Mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. | ||
| Biological process | Oxidation-reduction process | A metabolic process that results in the removal or addition of one or more electrons to or from a substance, with or without the concomitant removal or addition of a proton or protons. |
| Transcript | Name | Description | Predicted domains | Domain count |
|---|---|---|---|---|
| – | PREDICTED: frataxin, mitochondrial-like [Glycine max] gi|356571796|ref|XP_003554058.1| | 13 | ||
| – | Protein CyaY; TAIR: AT4G03240.1 frataxin-like protein; Swiss-Prot: sp|Q9ZR07|FRDA_ARATH Frataxin, mitochondrial; TrEMBL-Plants: tr|A0A151TAC9|A0A151TAC9_CAJCA Frataxin isogeny; Found in the gene: LotjaGi1g1v0649700 | 17 | ||
| – | Protein CyaY; TAIR: AT4G03240.1 frataxin-like protein; Swiss-Prot: sp|Q9ZR07|FRDA_ARATH Frataxin, mitochondrial; TrEMBL-Plants: tr|A0A151TAC9|A0A151TAC9_CAJCA Frataxin isogeny; Found in the gene: LotjaGi1g1v0649700 | 17 |
A list of co-occurring predicted domains within the L. japonicus gene space:
| Predicted domain | Source | Observations | Saturation (%) |
|---|---|---|---|
| cd00503 | CDD | 1 | 33.33 |