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MGI:Fxn

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Contents

Species (Taxon ID) Mus musculus (house mouse) (taxon:10090)
Gene Name(s) Fxn ( synonyms: Frda )
Protein Name(s) frataxin,
External Links
MGI MGI:1096879

Annotations

Qualifier GO ID GO term name Reference Evidence Code with/from Aspect Notes Status
GO:0004322

ferroxidase activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

F

From MGI

GO:0005737

cytoplasm

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0963

C

From MGI

GO:0005739

mitochondrion

MGI:MGI:2682130
PMID:14651853[1]

IDA: Inferred from Direct Assay

C

From MGI

GO:0005739

mitochondrion

MGI:MGI:3770334
PMID:17597094[2]

IDA: Inferred from Direct Assay

C

From MGI

GO:0005739

mitochondrion

MGI:MGI:3852644
PMID:18614015[3]

IDA: Inferred from Direct Assay

C

From MGI

GO:0005739

mitochondrion

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

NCBI:NP_001178881

C

From MGI

GO:0005739

mitochondrion

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

C

From MGI

GO:0005829

cytosol

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

C

From MGI

GO:0006119

oxidative phosphorylation

MGI:MGI:3611157
PMID:16278235[4]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177176
MGI:MGI:2176228

P

From MGI

GO:0006119

oxidative phosphorylation

MGI:MGI:3708076
PMID:17404227[5]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177176
MGI:MGI:2182103

P

From MGI

GO:0006783

heme biosynthetic process

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0350

P

From MGI

GO:0006810

transport

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0813

P

From MGI

GO:0006811

ion transport

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0406

P

From MGI

GO:0006879

cellular iron ion homeostasis

MGI:MGI:2158372
PMID:9405681[6]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177176
MGI:MGI:2177175

P

From MGI

GO:0006879

cellular iron ion homeostasis

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

P

From MGI

GO:0007005

mitochondrion organization

MGI:MGI:2158372
PMID:9405681[6]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177176
MGI:MGI:2177175

P

From MGI

GO:0007005

mitochondrion organization

MGI:MGI:3042499
PMID:14985441[7]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177177

P

From MGI

GO:0007628

adult walking behavior

MGI:MGI:2158372
PMID:9405681[6]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177176
MGI:MGI:2177175

P

From MGI

GO:0007628

adult walking behavior

MGI:MGI:3042499
PMID:14985441[7]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177177

P

From MGI

GO:0008198

ferrous iron binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

F

From MGI

GO:0008199

ferric iron binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

F

From MGI

GO:0008284

positive regulation of cell proliferation

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

P

From MGI

GO:0009060

aerobic respiration

MGI:MGI:2158372
PMID:9405681[6]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177176
MGI:MGI:2177175

P

From MGI

GO:0009060

aerobic respiration

MGI:MGI:3611157
PMID:16278235[4]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177176
MGI:MGI:2176228

P

From MGI

GO:0009792

embryo development ending in birth or egg hatching

MGI:MGI:1858550
PMID:10767347[8]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177162

P

From MGI

GO:0010039

response to iron ion

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

P

From MGI

GO:0010722

regulation of ferrochelatase activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

P

From MGI

GO:0016226

iron-sulfur cluster assembly

MGI:MGI:3611157
PMID:16278235[4]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177176
MGI:MGI:2176228

P

From MGI

GO:0016226

iron-sulfur cluster assembly

MGI:MGI:3770334
PMID:17597094[2]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177176
MGI:MGI:2176228

P

From MGI

GO:0016491

oxidoreductase activity

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0560

F

From MGI

GO:0016540

protein autoprocessing

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

P

From MGI

GO:0018283

iron incorporation into metallo-sulfur cluster

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

P

From MGI

GO:0019230

proprioception

MGI:MGI:2176558
PMID:11175786[9]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177176
MGI:MGI:2177175

P

From MGI

GO:0019230

proprioception

MGI:MGI:3042499
PMID:14985441[7]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177177

P

From MGI

GO:0019899

enzyme binding

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

NCBI:NP_001178881

F

From MGI

GO:0030307

positive regulation of cell growth

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

P

From MGI

GO:0034986

iron chaperone activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

F

From MGI

GO:0040015

negative regulation of multicellular organism growth

MGI:MGI:3708076
PMID:17404227[5]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177176
MGI:MGI:2182103

P

From MGI

GO:0043066

negative regulation of apoptotic process

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

P

From MGI

GO:0045773

positive regulation of axon extension

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

NCBI:NP_001178881

P

From MGI

GO:0046621

negative regulation of organ growth

MGI:MGI:2158372
PMID:9405681[6]

IMP: Inferred from Mutant Phenotype

MGI:MGI:2177176
MGI:MGI:2177175

P

From MGI

GO:0046872

metal ion binding

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0479

F

From MGI

GO:0048554

positive regulation of metalloenzyme activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

P

From MGI

GO:0051347

positive regulation of transferase activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

P

From MGI

GO:0051349

positive regulation of lyase activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

P

From MGI

GO:0051353

positive regulation of oxidoreductase activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

P

From MGI

GO:0051536

iron-sulfur cluster binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

F

From MGI

GO:0051537

2 iron, 2 sulfur cluster binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

F

From MGI

GO:0055072

iron ion homeostasis

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0410

P

From MGI

GO:0055114

oxidation-reduction process

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0560

P

From MGI

GO:0055114

oxidation-reduction process

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR017789
InterPro:IPR001794

P

From MGI

GO:0070301

cellular response to hydrogen peroxide

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

P

From MGI

GO:0090201

negative regulation of release of cytochrome c from mitochondria

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:Q16595

P

From MGI


Notes

References

See Help:References for how to manage references in GONUTS.
  1. Mootha VK et al. (2003) Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell 115: 629-40 PubMed GONUTS page
  2. 2.0 2.1 Martelli A et al. (2007) Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues. Hum Mol Genet 16: 2651-8 PubMed GONUTS page
  3. Pagliarini DJ et al. (2008) A mitochondrial protein compendium elucidates complex I disease biology. Cell 134: 112-23 PubMed GONUTS page
  4. 4.0 4.1 4.2 Thierbach R et al. (2005) Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice. Hum Mol Genet 14: 3857-64 PubMed GONUTS page
  5. 5.0 5.1 Pomplun D et al. (2007) Reduced expression of mitochondrial frataxin in mice exacerbates diet-induced obesity. Proc Natl Acad Sci U S A 104: 6377-81 PubMed GONUTS page
  6. 6.0 6.1 6.2 6.3 6.4 Oliver PM et al. (1997) Hypertension, cardiac hypertrophy, and sudden death in mice lacking natriuretic peptide receptor A. Proc Natl Acad Sci U S A 94: 14730-5 PubMed GONUTS page
  7. 7.0 7.1 7.2 Simon D et al. (2004) Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia. J Neurosci 24: 1987-95 PubMed GONUTS page
  8. Cossée M et al. (2000) Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. Hum Mol Genet 9: 1219-26 PubMed GONUTS page
  9. Puccio H et al. (2001) Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet 27: 181-6 PubMed GONUTS page
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