Fxn frataxin [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Fxnprovided by RGD
Official Full Name: frataxinprovided by RGD
Primary source: RGD:1565754
See related: EnsemblRapid:ENSRNOG00000015213 AllianceGenome:RGD:1565754
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: RGD1565754
Summary: Enables enzyme binding activity. Involved in several processes, including cellular response to glucose starvation; iron import into the mitochondrion; and positive regulation of axon extension. Located in mitochondrion. 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, Nov 2024]
Expression: Biased expression in Heart (RPKM 142.6), Muscle (RPKM 104.0) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 1q51

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (231300457..231323989, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (221874007..221897543, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (242123975..242152834, complement)

Chromosome 1 - NC_086019.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

frataxin deficiency in neonatal rat ventricular myocytes leads to mitochondrial dysfunction and oxidative stress, which would affect lipid metabolism.
Title: Frataxin deficiency in neonatal rat ventricular myocytes targets mitochondria and lipid metabolism.
Frataxin depletion caused mitochondrial membrane potential decrease, neurite degeneration and apoptotic cell death.
Title: Apoptotic cell death and altered calcium homeostasis caused by frataxin depletion in dorsal root ganglia neurons can be prevented by BH4 domain of Bcl-xL protein.
dual, pro-proliferative but chemosensitizing role in astrocytic tumors
Title: Dual role of the mitochondrial protein frataxin in astrocytic tumors.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by RGD

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	IPI Inferred from Physical Interaction more info	PubMed
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
enables metallochaperone activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in [2Fe-2S] cluster assembly	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
acts_upstream_of [4Fe-4S] cluster assembly	ISO Inferred from Sequence Orthology more info
involved_in [4Fe-4S] cluster assembly	ISO Inferred from Sequence Orthology more info
involved_in [4Fe-4S] cluster assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in adult walking behavior	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within adult walking behavior	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within aerobic respiration	ISO Inferred from Sequence Orthology more info
involved_in cellular response to glucose starvation	IEP Inferred from Expression Pattern 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
involved_in cellular response to hypoxia	IEP Inferred from Expression Pattern more info	PubMed
involved_in embryo development ending in birth or egg hatching	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within embryo development ending in birth or egg hatching	ISO Inferred from Sequence Orthology more info
involved_in heme biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in intracellular iron ion homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intracellular iron ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular iron ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular iron ion homeostasis	NAS Non-traceable Author Statement more info	PubMed
involved_in iron import into the mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
involved_in iron-sulfur cluster assembly	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within mitochondrion organization	ISO Inferred from Sequence Orthology more info
involved_in muscle cell cellular homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within muscle cell cellular homeostasis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of lipid storage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of multicellular organism growth	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of multicellular organism growth	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of organ growth	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of organ growth	ISO Inferred from Sequence Orthology more info
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
involved_in organ growth	IEA Inferred from Electronic Annotation more info
acts_upstream_of organ growth	ISO Inferred from Sequence Orthology more info
involved_in oxidative phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within oxidative phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of aconitate hydratase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of axon extension	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of succinate dehydrogenase activity	ISO Inferred from Sequence Orthology more info
involved_in proprioception	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within proprioception	ISO Inferred from Sequence Orthology more info
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	IMP Inferred from Mutant Phenotype more info	PubMed
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
involved_in response to organic cyclic compound	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to xenobiotic stimulus	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	ISO Inferred from Sequence Orthology more info
part_of mitochondrial [2Fe-2S] assembly complex	IEA Inferred from Electronic Annotation more info
part_of mitochondrial [2Fe-2S] assembly complex	ISO Inferred from Sequence Orthology more info
part_of mitochondrial [2Fe-2S] assembly complex	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	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: frataxin, mitochondrial

NP_001382061.1

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.

mRNA and Protein(s)

NM_001395132.1 → NP_001382061.1 frataxin, mitochondrial

Status: VALIDATED

Source sequence(s)

JAXUCZ010000001

UniProtKB/Swiss-Prot

D3ZYW7

UniProtKB/TrEMBL

M0RAK4

Related

ENSRNOP00000066555.3, ENSRNOT00000071614.4

Conserved Domains (1) summary

TIGR03422
Location:92 → 190

mito_frataxin; frataxin

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086019.1 Reference GRCr8

Range

231300457..231323989 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001191952.2: Suppressed sequence

Description

NM_001191952.2: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.