| General information | | DisProt: | DP00607 | | Name: | Frataxin, mitochondrial | | Synonym(s): | FRDA_HUMAN
Friedreich ataxia protein
hfra
Fxn
Frataxin intermediate form [cleavage product 1]
Frataxin(56-210) [cleavage product 2]
Frataxin(81-210) [cleavage product 3]
| | First appeared in release: | Release 5.1 (05/28/2010) | | UniProt: | Q16595 | | UniGene: | Hs.20685 | | SwissProt: | FRDA_HUMAN | | TrEMBL: | | | NCBI (GI): | 6166193 | | Source organism: | Homo sapiens (Human) | | Sequence length: | 210 | | Percent disordered: | 62% | | Homologues: | |
| Native sequence |
10 20 30 40 50 60
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MWTLGRRAVA GLLASPSPAQ AQTLTRVPRP AELAPLCGRR GLRTDIDATC TPRRASSNQR - 60
GLNQIWNVKK QSVYLMNLRK SGTLGHPGSL DETTYERLAE ETLDSLAEFF EDLADKPYTF - 120
EDYDVSFGSG VLTVKLGGDL GTYVINKQTP NKQIWLSSPS SGPKRYDWTG KNWVYSHDGV - 180
SLHELLAAEL TKALKTKLDL SSLAYSGKDA
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| Functional narrative |
Probably involved in iron homeostasis. Anti-apoptotic protein which prevents mitochondrial damage and reactive oxygen species (ROS) production.
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| Map of ordered and disordered regions |
Note: 'Mouse' over a region to see the start and stop residues. Click on a region to see detailed information.
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| Region 1 | | Type: | Disordered - Extended | | Name: | N-terminal tail | | Location: | 81 - 210 | | Length: | 130 | | Region sequence: |
SGTLGHPGSLDETTYERLAEETLDSLAEFFEDLADKPYTFEDYDVSFGSGVLTVKLGGDL
GTYVINKQTPNKQIWLSSPSSGPKRYDWTGKNWVYSHDGVSLHELLAAELTKALKTKLDL
SSLAYSGKDA | | Modification type: | Fragment
| | PDB: | | | Structural/functional type: | Function arises from the disordered state
| | Functional classes: | Entropic chain
| | Functional subclasses: | Flexible linkers/spacers
| Detection methods:
- Nuclear magnetic resonance (NMR) (298 K; )
| References:
- Prischi F, Giannini C, Adinolfi S, Pastore A. "The N-terminus of mature human frataxin is intrinsically unfolded." FEBS J. 2009. PubMed: 19843162
| Comments:Human frataxin contains an N-terminal import signal (residues 81 to 91) and a C-terminal domain (92 to 21) which is highly conserved through species. The N-terminal signal is intrinsically unfolded.
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| References |
- Condo I, Ventura N, Malisan F, Rufini A, Tomassini B, Testi R. "In vivo maturation of human frataxin." Hum. Mol. Genet.. 2007; 16(13): 1534-40. PubMed: 17468497
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