Fxn frataxin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Fxnprovided by MGI
Official Full Name: frataxinprovided by MGI
Primary source: MGI:MGI:1096879
See related: Ensembl:ENSMUSG00000059363 AllianceGenome:MGI:1096879
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: FA; X25; FARR; Frda
Summary: Predicted to enable several functions, including 2 iron, 2 sulfur cluster binding activity; ferroxidase activity; and iron ion binding activity. Involved in [4Fe-4S] cluster assembly. Acts upstream of or within several processes, including adult walking behavior; muscle cell cellular homeostasis; and negative regulation of organ growth. Located in mitochondrion. Part of mitochondrial [2Fe-2S] assembly complex. Is expressed in several structures, including brain; cartilage condensation; heart; hemolymphoid system; and lower jaw incisor. Used to study Friedreich ataxia. 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, Oct 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 20.6), liver E14.5 (RPKM 15.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 B; 19 19.39 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (24236909..24257954, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (24259545..24280590, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Frataxin Loss Promotes Angiotensin II-Induced Endothelial-to-Mesenchymal Transition.
Title: Frataxin Loss Promotes Angiotensin II-Induced Endothelial-to-Mesenchymal Transition.
Frataxin deficiency shifts metabolism to promote reactive microglia via glucose catabolism.
Title: Frataxin deficiency shifts metabolism to promote reactive microglia via glucose catabolism.
Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency.
Title: Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency.
Frataxin inhibits the sensitivity of the myocardium to ferroptosis by regulating iron homeostasis.
Title: Frataxin inhibits the sensitivity of the myocardium to ferroptosis by regulating iron homeostasis.
Frataxin deficiency disrupts mitochondrial respiration and pulmonary endothelial cell function.
Title: Frataxin deficiency disrupts mitochondrial respiration and pulmonary endothelial cell function.
Iron-frataxin involved in the protective effect of quercetin against alcohol-induced liver mitochondrial dysfunction.
Title: Iron-frataxin involved in the protective effect of quercetin against alcohol-induced liver mitochondrial dysfunction.
Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin.
Title: Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin.
Frataxin deficiency lowers lean mass and triggers the integrated stress response in skeletal muscle.
Title: Frataxin deficiency lowers lean mass and triggers the integrated stress response in skeletal muscle.
Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations.
Title: Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations.
Frataxin deficiency promotes endothelial senescence in pulmonary hypertension.
Title: Frataxin deficiency promotes endothelial senescence in pulmonary hypertension.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (9) 1 citation
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D4S2924 (e-PCR), detects polymorphism
- UniSTS:63626

NoName (e-PCR)
- UniSTS:491232

D5Mit392.1 (e-PCR), detects polymorphism
- UniSTS:130544

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 2 iron, 2 sulfur cluster binding	IBA Inferred from Biological aspect of Ancestor more info
enables 2 iron, 2 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables 2 iron, 2 sulfur cluster binding	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology 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 ferric iron binding	ISO Inferred from Sequence Orthology more info
enables ferrous iron binding	IBA Inferred from Biological aspect of Ancestor more info
enables ferrous iron binding	IEA Inferred from Electronic Annotation more info
enables ferrous iron binding	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
enables iron chaperone activity	IBA Inferred from Biological aspect of Ancestor more info
enables iron chaperone activity	IEA Inferred from Electronic Annotation more info
enables iron chaperone activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in [2Fe-2S] cluster assembly	ISO Inferred from Sequence Orthology more info
involved_in [2Fe-2S] cluster assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in [4Fe-4S] cluster assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of [4Fe-4S] cluster assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within adult walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within aerobic respiration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hydrogen peroxide	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryo development ending in birth or egg hatching	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heme biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intracellular iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular iron ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in iron import into the mitochondrion	ISO Inferred from Sequence Orthology more info
involved_in iron incorporation into metallo-sulfur cluster	IEA Inferred from Electronic Annotation more info
involved_in iron incorporation into metallo-sulfur cluster	ISO Inferred from Sequence Orthology more info
involved_in iron ion transport	IEA Inferred from Electronic Annotation more info
involved_in iron-sulfur cluster assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within iron-sulfur cluster assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in iron-sulfur cluster assembly	ISO Inferred from Sequence Orthology more info
involved_in iron-sulfur cluster assembly	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle cell cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of lipid storage	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of organ growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of release of cytochrome c from mitochondria	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of release of cytochrome c from mitochondria	ISO Inferred from Sequence Orthology more info
acts_upstream_of organ growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within oxidative phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of aconitate hydratase activity	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of aconitate hydratase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of axon extension	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of catalytic activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell growth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of lyase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitochondrial membrane permeability	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of succinate dehydrogenase activity	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of succinate dehydrogenase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within proprioception	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein autoprocessing	IEA Inferred from Electronic Annotation more info
involved_in protein autoprocessing	ISO Inferred from Sequence Orthology more info
involved_in regulation of cytosolic calcium ion concentration	ISO Inferred from Sequence Orthology more info
involved_in regulation of ferrochelatase activity	IEA Inferred from Electronic Annotation more info
involved_in regulation of ferrochelatase activity	ISO Inferred from Sequence Orthology more info
involved_in response to iron ion	IEA Inferred from Electronic Annotation more info
involved_in response to iron ion	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of L-cysteine desulfurase complex	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
part_of iron-sulfur cluster assembly complex	NAS Non-traceable Author Statement more info	PubMed
part_of mitochondrial [2Fe-2S] assembly complex	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial [2Fe-2S] assembly complex	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: frataxin, mitochondrial

Names: Friedreich ataxia

NP_032070.1

EC 1.16.3.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.