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Aliases for FXN Gene

Aliases for FXN Gene

  • Frataxin 2 3
  • FRDA 3 4 6
  • X25 3 4 6
  • Friedreich Ataxia Protein 3 4
  • FARR 3 6
  • Frataxin, Mitochondrial 3
  • Friedreich Ataxia 2
  • EC 1.16.3.1 4
  • CyaY 3
  • Fxn 4
  • FA 3

External Ids for FXN Gene

Previous Symbols for FXN Gene

  • FRDA

Summaries for FXN Gene

Entrez Gene Summary for FXN Gene

  • This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]

GeneCards Summary for FXN Gene

FXN (Frataxin) is a Protein Coding gene. Diseases associated with FXN include friedreich ataxia and x-linked sideroblastic anemia with ataxia. Among its related pathways are Metabolism and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include enzyme binding and ferrous iron binding.

UniProtKB/Swiss-Prot for FXN Gene

  • Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1.

Gene Wiki entry for FXN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FXN Gene

Genomics for FXN Gene

Genomic Location for FXN Gene

Start:
69,035,259 bp from pter
End:
69,100,178 bp from pter
Size:
64,920 bases
Orientation:
Plus strand

Genomic View for FXN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FXN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FXN Gene

Regulatory Elements for FXN Gene

Proteins for FXN Gene

  • Protein details for FXN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16595-FRDA_HUMAN
    Recommended name:
    Frataxin, mitochondrial
    Protein Accession:
    Q16595
    Secondary Accessions:
    • A8MXJ6
    • C9JJ89
    • O15545
    • O95656
    • Q15294
    • Q5VZ01

    Protein attributes for FXN Gene

    Size:
    210 amino acids
    Molecular mass:
    23135 Da
    Quaternary structure:
    • Monomer (probable predominant form). Oligomer. Monomers and polymeric aggregates of >1 MDa have been isolated from mitochondria. A small fraction of heterologous overexpressed recombinant frataxin forms high-molecular wight aggregates that incoroprate iron. Interacts with LYRM4 AND HSPA9. Interacts with ACO1. Interacts with ISCU isoform 1 and isoform 2. Interacts with FECH; one iron-bound FXN monomer seems to interact with a FECH homodimer. Interacts with SDHA and SDHB. Interacts with ACO2; the interaction is dependent on citrate (By similarity).
    Miscellaneous:
    • The unusual migration profile of mature frataxin on SDS-PAGE due to its acidic N-terminus most likely contributed to conflicting reports for the N-terminus of the mature protein. Unlike prokaryotic and yeast frataxin homologs, which self-assemble at high iron concentrations, oligomerization of human frataxin is not induced by iron. The existence of a specialized mitochondrial ferritin in mammalia (FTMT) is suggesting that iron storage would be redundant function, at least in mammalian mitochondria

    Three dimensional structures from OCA and Proteopedia for FXN Gene

    Alternative splice isoforms for FXN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FXN Gene

Proteomics data for FXN Gene at MOPED

Post-translational modifications for FXN Gene

  • Processed in two steps by mitochondrial processing peptidase (MPP). MPP first cleaves the precursor to intermediate form and subsequently converts the intermediate to yield frataxin mature form (frataxin(81-210)) which is the predominant form. The additional forms, frataxin(56-210) and frataxin(78-210), seem to be produced when the normal maturation process is impaired; their physiological relevance is unsure.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys197

Other Protein References for FXN Gene

No data available for DME Specific Peptides for FXN Gene

Domains for FXN Gene

Protein Domains for FXN Gene

UniProtKB/Swiss-Prot:

FRDA_HUMAN
Family:
  • Belongs to the frataxin family.:
    • Q16595
genes like me logo Genes that share domains with FXN: view

No data available for Gene Families for FXN Gene

Function for FXN Gene

Molecular function for FXN Gene

UniProtKB/Swiss-Prot CatalyticActivity: 4 Fe(2+) + 4 H(+) + O(2) = 4 Fe(3+) + 2 H(2)O.
UniProtKB/Swiss-Prot Function: Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1.

Enzyme Numbers (IUBMB) for FXN Gene

Gene Ontology (GO) - Molecular Function for FXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004322 ferroxidase activity IDA 15641778
GO:0005515 protein binding IPI 15123683
GO:0008198 ferrous iron binding IDA 12785837
GO:0008199 ferric iron binding IDA 12785837
GO:0034986 iron chaperone activity IDA 15123683
genes like me logo Genes that share ontologies with FXN: view
genes like me logo Genes that share phenotypes with FXN: view

Animal Models for FXN Gene

MGI Knock Outs for FXN:

No data available for Transcription Factor Targeting and HOMER Transcription for FXN Gene

Localization for FXN Gene

Subcellular locations from UniProtKB/Swiss-Prot for FXN Gene

Cytoplasm. Mitochondrion. Note=PubMed:18725397 reports localization exclusively in mitochondria.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FXN Gene COMPARTMENTS Subcellular localization image for FXN gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for FXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 17468497
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IDA 17468497
genes like me logo Genes that share ontologies with FXN: view

Pathways for FXN Gene

genes like me logo Genes that share pathways with FXN: view

Pathways by source for FXN Gene

Gene Ontology (GO) - Biological Process for FXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006119 oxidative phosphorylation IEA --
GO:0006783 heme biosynthetic process NAS 15123683
GO:0006811 ion transport IEA --
GO:0006879 cellular iron ion homeostasis IMP 18160053
GO:0007005 mitochondrion organization IEA --
genes like me logo Genes that share ontologies with FXN: view

Compounds for FXN Gene

(2) HMDB Compounds for FXN Gene

Compound Synonyms Cas Number PubMed IDs
Heme
  • (protoporphyrinato)iron
14875-96-8
Iron
  • Armco iron
7439-89-6

(20) Novoseek inferred chemical compound relationships for FXN Gene

Compound -log(P) Hits PubMed IDs
idebenone 85.5 3
iron-sulfur 84.3 45
iron 80.5 195
ferrihydrite 51.9 5
ferric ammonium citrate 47.8 1
genes like me logo Genes that share compounds with FXN: view

Transcripts for FXN Gene

Unigene Clusters for FXN Gene

Frataxin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FXN Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6
SP1: - -
SP2: -
SP3: -
SP4: -

Relevant External Links for FXN Gene

GeneLoc Exon Structure for
FXN
ECgene alternative splicing isoforms for
FXN

Expression for FXN Gene

mRNA expression in normal human tissues for FXN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FXN Gene

SOURCE GeneReport for Unigene cluster for FXN Gene Hs.20685

mRNA Expression by UniProt/SwissProt for FXN Gene

Q16595-FRDA_HUMAN
Tissue specificity: Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts.
genes like me logo Genes that share expressions with FXN: view

Orthologs for FXN Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FXN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FXN 36
  • 96.19 (n)
  • 96.67 (a)
cow
(Bos Taurus)
Mammalia FXN 36
  • 79.59 (n)
  • 75.12 (a)
FXN 37
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FXN 36
  • 79.33 (n)
  • 76.44 (a)
FXN 37
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fxn 36
  • 74.96 (n)
  • 74.15 (a)
Fxn 16
Fxn 37
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FXN 37
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fxn 36
  • 73.86 (n)
  • 71.57 (a)
chicken
(Gallus gallus)
Aves FXN 36
  • 71.36 (n)
  • 78.87 (a)
FXN 37
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FXN 37
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497789 36
  • 69.44 (n)
  • 79.55 (a)
zebrafish
(Danio rerio)
Actinopterygii fxn 36
  • 62.82 (n)
  • 65.38 (a)
fxn 37
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta fh 37
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea frh-1 37
  • 43 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YFH1 37
  • 32 (a)
OneToOne
YFH1 39
thale cress
(Arabidopsis thaliana)
eudicotyledons FH 36
  • 45.31 (n)
  • 39.52 (a)
rice
(Oryza sativa)
Liliopsida Os01g0783600 36
  • 53.09 (n)
  • 49.38 (a)
Species with no ortholog for FXN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FXN Gene

ENSEMBL:
Gene Tree for FXN (if available)
TreeFam:
Gene Tree for FXN (if available)

Paralogs for FXN Gene

Selected SIMAP similar genes for FXN Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for FXN Gene

genes like me logo Genes that share paralogs with FXN: view

No data available for Paralogs for FXN Gene

Variants for FXN Gene

Sequence variations from dbSNP and Humsavar for FXN Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs10890 -- 69,073,008(+) TGATA(C/T)CCCTT utr-variant-3-prime, intron-variant
rs944348 -- 69,069,343(-) CTGTC(A/G)CCCAG intron-variant
rs953588 -- 69,089,911(-) CCTTG(A/G)AAGAT intron-variant
rs1045632 -- 69,078,861(+) GCATA(C/T)CATGT utr-variant-3-prime, intron-variant
rs1052186 -- 69,072,916(-) ACATT(C/G)TTTCT utr-variant-3-prime, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FXN Gene

Variant ID Type Subtype PubMed ID
esv2422258 CNV Duplication 17116639
nsv466393 CNV Gain 19166990
nsv466397 CNV Gain 19166990
nsv893416 CNV Gain 21882294
nsv893426 CNV Gain 21882294
dgv45e194 CNV Deletion 18987734
esv3093 CNV Deletion 18987735
esv2738527 CNV Deletion 23290073
esv1673718 CNV Deletion 17803354
esv6324 CNV Loss 19470904
esv2738528 CNV Deletion 23290073
esv2738530 CNV Deletion 23290073
esv2659849 CNV Deletion 23128226
nsv508550 CNV Loss 20534489
nsv824939 CNV Loss 20364138
nsv6549 CNV Loss 18451855
esv2624430 CNV Deletion 19546169
esv2738531 CNV Deletion 23290073
nsv6550 CNV Loss 18451855

Relevant External Links for FXN Gene

HapMap Linkage Disequilibrium report
FXN
Human Gene Mutation Database (HGMD)
FXN

Disorders for FXN Gene

(1) OMIM Diseases for FXN Gene (606829)

UniProtKB/Swiss-Prot

FRDA_HUMAN
  • Friedreich ataxia (FRDA) [MIM:229300]: Autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region. {ECO:0000269 PubMed:10732799, ECO:0000269 PubMed:10874325, ECO:0000269 PubMed:9150176, ECO:0000269 PubMed:9779809, ECO:0000269 PubMed:9989622, ECO:0000269 Ref.34, ECO:0000269 Ref.7, ECO:0000269 Ref.8}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(30) Novoseek inferred disease relationships for FXN Gene

Disease -log(P) Hits PubMed IDs
friedreich ataxia 99 123
ataxias hereditary 87.8 5
frda1 86.8 4
neurodegenerative diseases 75.8 37
spinocerebellar ataxias 73.7 1

Relevant External Links for FXN

GeneTests
FXN
GeneReviews
FXN
Genetic Association Database (GAD)
FXN
Human Genome Epidemiology (HuGE) Navigator
FXN
genes like me logo Genes that share disorders with FXN: view

Publications for FXN Gene

  1. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. (PMID: 9241270) Koutnikova H. … Koenig M. (Nat. Genet. 1997) 3 4 23
  2. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. (PMID: 9302253) Campuzano V. … Koenig M. (Hum. Mol. Genet. 1997) 3 4 23
  3. The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase. (PMID: 8841185) Carvajal J.J. … Chamberlain S. (Nat. Genet. 1996) 2 3 23
  4. Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. (PMID: 9779809) Bartolo C. … Prior T.W. (Am. J. Med. Genet. 1998) 3 4 23
  5. Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase. (PMID: 10428860) Branda S.S. … Isaya G. (J. Biol. Chem. 1999) 3 4 23

Products for FXN Gene

  • Addgene plasmids for FXN

Sources for FXN Gene

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