Family

Frataxin/CyaY (IPR002908)

Short name: Frataxin/CyaY

Family relationships

  • Frataxin/CyaY (IPR002908)

Description

The eukaryotic proteins in this entry include frataxin, the protein that is mutated in Friedreich's ataxia [PMID: 8931268], and related sequences. 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) [PMID: 8596916, PMID: 8815938, PMID: 9241270].

The bacterial proteins in this entry are iron-sulphur cluster (FeS) metabolism CyaY proteins hmologous to eukaryotic frataxin. Partial Phylogenetic Profiling [PMID: 16930487] suggests that CyaY most likely functions as part of the ISC system for FeS cluster biosynthesis, and is supported by expermimental data in some species [PMID: 16603772, PMID: 16428423].

GO terms

Biological Process

GO:0016226 iron-sulfur cluster assembly

Molecular Function

GO:0008199 ferric iron binding

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam
PROSITE profiles
TIGRFAMs
SUPERFAMILY
PANTHER
GENE3D
PRINTS
HAMAP