fh frataxin [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: fhprovided by FlyBase
Official Full Name: frataxinprovided by FlyBase
Primary source: FLYBASE:FBgn0030092
Locus tag: Dmel_CG8971
See related: AllianceGenome:FB:FBgn0030092
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: BcDNA:AT09528; CG8971; dfh; Dfh; DFH; Dmel\CG8971; Fh; X25
Summary: Enables ferrous iron binding activity and iron chaperone activity. Involved in several processes, including determination of adult lifespan; positive regulation of ecdysteroid biosynthetic process; and positive regulation of oxidative phosphorylation. Located in mitochondrion. Is expressed in organism. Used to study Friedreich ataxia and Friedreich ataxia 1. Human ortholog(s) of this gene implicated in Friedreich ataxia; Friedreich ataxia 1; glioblastoma; and type 2 diabetes mellitus. Orthologous to human FXN (frataxin). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 8C14-8C14; 1-26 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	X	NC_004354.4 (9148080..9149071, complement)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	X	NC_004354.3 (9042113..9043104, complement)

Chromosome X - NC_004354.4 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Glial overexpression of Tspo extends lifespan and protects against frataxin deficiency in Drosophila.
Title: Glial overexpression of Tspo extends lifespan and protects against frataxin deficiency in Drosophila.
Drosophila melanogaster frataxin: protein crystal and predicted solution structure with identification of the iron-binding regions.
Title: Drosophila melanogaster frataxin: protein crystal and predicted solution structure with identification of the iron-binding regions.
A Drosophila model of Friedreich ataxia with CRISPR/Cas9 insertion of GAA repeats in the frataxin gene reveals in vivo protection by N-acetyl cysteine.
Title: A Drosophila model of Friedreich ataxia with CRISPR/Cas9 insertion of GAA repeats in the frataxin gene reveals in vivo protection by N-acetyl cysteine.
we report that frataxin overexpression is sufficient to increase oxidative phosphorylation, modify mitochondrial morphology, alter iron homeostasis and trigger oxidative stress-dependent cell death.
Title: Overexpression of Drosophila frataxin triggers cell death in an iron-dependent manner.
The authors show that loss of frataxin homolog (fh) in Drosophila leads to iron toxicity, which in turn induces sphingolipid synthesis and ectopically activates 3-phosphoinositide dependent protein kinase-1 (Pdk1) and myocyte enhancer factor-2 (Mef2).
Title: Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration.
Frataxin overexpression in the nervous system reduces life span, impairs locomotor ability and causes brain degeneration.
Title: Overexpression of human and fly frataxins in Drosophila provokes deleterious effects at biochemical, physiological and developmental levels.
Strong involvement of glial cells and lipid peroxidation in the generation of Friedreich's ataxia.
Title: Altered lipid metabolism in a Drosophila model of Friedreich's ataxia.
Defects in axonal transport of mitochondria appear late in development in distal nerve of larvae showing reduced frataxin expression, with retrograde movement preferentially affected.
Title: Defects in mitochondrial axonal transport and membrane potential without increased reactive oxygen species production in a Drosophila model of Friedreich ataxia.
Dfh-assisted assembly of Fe-S clusters occurs with an observed kinetic rate constant ( k obs) of 0.096 min (-1)
Title: Drosophila frataxin: an iron chaperone during cellular Fe-S cluster bioassembly.
This suggests that Drosophila frataxin may function to protect the mitochondria from oxidative stresses and the ensuing cellular damage.
Title: Overexpression of frataxin in the mitochondria increases resistance to oxidative stress and extends lifespan in Drosophila.

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Pathways from PubChem

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables 2 iron, 2 sulfur cluster binding	IBA Inferred from Biological aspect of Ancestor more info
enables ferric iron binding	IBA Inferred from Biological aspect of Ancestor more info
enables ferric iron binding	IEA Inferred from Electronic Annotation more info
enables ferrous iron binding	IBA Inferred from Biological aspect of Ancestor more info
enables ferrous iron binding	IDA Inferred from Direct Assay more info	PubMed
enables ferroxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ferroxidase activity	IEA Inferred from Electronic Annotation more info
enables ferroxidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables iron chaperone activity	IBA Inferred from Biological aspect of Ancestor more info
enables iron chaperone activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axonal transport of mitochondrion	IDA Inferred from Direct Assay more info	PubMed
involved_in determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular iron ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in iron incorporation into metallo-sulfur cluster	IEA Inferred from Electronic Annotation more info
involved_in iron-sulfur cluster assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in iron-sulfur cluster assembly	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in lipid catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ecdysteroid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of oxidative phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mitochondrial membrane potential	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hydrogen peroxide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to iron ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of mitochondrial [2Fe-2S] assembly complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in mitochondrial matrix	ISS Inferred from Sequence or Structural Similarity more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed