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FXN cDNA ORF clone, Homo sapiens (human)

Gene Symbol FXN
Entrez Gene ID 2395
Full Name frataxin
Synonyms CyaY, FA, FARR, FRDA, X25
General protein information
Preferred Names
frataxin, mitochondrial
Names
frataxin, mitochondrial
Friedreich ataxia protein
NP_000135.2
NP_001155178.1
NP_852090.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

9

9q21.11

Summary 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]. lac of sum
Disorder MIM:

606829

Disorder Html: Friedreich ataxia, 229300 (3); Friedreich ataxia with retained

mRNA and Protein(s)

mRNA Protein Name
NM_000144 NP_000135 frataxin, mitochondrial isoform 1 preproprotein
NM_181425 NP_852090 frataxin, mitochondrial isoform 2 preproprotein
NM_001161706 NP_001155178 frataxin, mitochondrial isoform 3 preproprotein



Homo sapiens (human) FXN NP_000135.2
Pan troglodytes (chimpanzee) FXN XP_001137864.2
Macaca mulatta (Rhesus monkey) FXN XP_001093449.1
Canis lupus familiaris (dog) FXN NP_001103428.1
Bos taurus (cattle) FXN NP_001074196.1
Mus musculus (house mouse) Fxn NP_032070.1
Rattus norvegicus (Norway rat) Fxn NP_001178881.1
Gallus gallus (chicken) FXN XP_424827.3
Danio rerio (zebrafish) fxn NP_001076485.1
Arabidopsis thaliana (thale cress) FH NP_192233.2
Xenopus (Silurana) tropicalis (western clawed frog) LOC100497789 XP_004910856.1


GeneRIFs: Gene References Into Functions What's a GeneRIF?

The following FXN gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the FXN cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu22988
NM_000144 Homo sapiens frataxin (FXN), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$49.50-$69.30
$99.00
OHu22634 NM_181425 Homo sapiens frataxin (FXN), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $69.30
$99.00
OHu22696 NM_001161706 Homo sapiens frataxin (FXN), transcript variant 3, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $69.30
$99.00
Next-day Shipping ORF Clones ( in default vector with tag)
1 Clone 30% OFF
2-4 Clone 40% OFF
5 or more Clone 50% OFF
All Other ORF Clones
30% OFF

*Business Day

** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu22988
Clone ID Related Accession (Same CDS sequence) NM_000144
Accession Version NM_000144.4 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 633bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product frataxin, mitochondrial isoform 1 preproprotein
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL162730.26, U43747.1 and BC023633.2. This sequence is a reference standard in the RefSeqGene project. On Jun 11, 2009 this sequence version replaced gi:31742514. Transcript Variant: This variant (1) encodes the longer isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## ##Evidence-Data-START## Transcript exon combination :: BC023633.2, U43747.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGTGGACCTA AGCGTTATGA CTGGACTGGG AAAAACTGGG TGTACTCCCA CGACGGCGTG
TCCCTCCATG AGCTGCTGGC CGCAGAGCTC ACTAAAGCCT TAAAAACCAA ACTGGACTTG
TCTTCCTTGG CCTATTCCGG AAAAGATGCT TGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_000135.2
CDS221..853
Misc Feature(1)113..115(+)
Misc Feature(2)488..820(+)
Misc Feature(3)494..592(+)
Exon (1)1..385
Gene:FXN
Gene Synonym:
Exon (2)386..483
Gene:FXN
Gene Synonym:
Exon (3)484..604
Gene:FXN
Gene Synonym:
Exon (4)605..702
Gene:FXN
Gene Synonym:
Exon (5)703..7168
Gene:FXN
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_000144
Organism Homo sapiens (human)
Definition Homo sapiens frataxin (FXN), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000144

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGTGGACCTA AGCGTTATGA CTGGACTGGG AAAAACTGGG TGTACTCCCA CGACGGCGTG
TCCCTCCATG AGCTGCTGGC CGCAGAGCTC ACTAAAGCCT TAAAAACCAA ACTGGACTTG
TCTTCCTTGG CCTATTCCGG AAAAGATGCT TGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu22634
Clone ID Related Accession (Same CDS sequence) NM_181425
Accession Version NM_181425.2 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 591bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product frataxin, mitochondrial isoform 2 preproprotein
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL162730.26, BF058880.1, BC023633.2 and AA232366.1. On Jun 11, 2009 this sequence version replaced gi:31742515. Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## ##Evidence-Data-START## Transcript exon combination :: BU552829.1, BF058880.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGGTATGTAG TGGACCTAAG CGTTATGACT GGACTGGGAA AAACTGGGTG TACTCCCACG
ACGGCGTGTC CCTCCATGAG CTGCTGGCCG CAGAGCTCAC TAAAGCCTTA A

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_852090.1
CDS221..811
Misc Feature(1)113..115(+)
Misc Feature(2)494..592(+)
Misc Feature(3)500..>706(+)
Exon (1)1..385
Gene:FXN
Gene Synonym:
Exon (2)386..483
Gene:FXN
Gene Synonym:
Exon (3)484..604
Gene:FXN
Gene Synonym:
Exon (4)605..710
Gene:FXN
Gene Synonym:
Exon (5)711..7176
Gene:FXN
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_181425
Organism Homo sapiens (human)
Definition Homo sapiens frataxin (FXN), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_181425

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGGTATGTAG TGGACCTAAG CGTTATGACT GGACTGGGAA AAACTGGGTG TACTCCCACG
ACGGCGTGTC CCTCCATGAG CTGCTGGCCG CAGAGCTCAC TAAAGCCTTA A

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

CloneID OHu22696
Clone ID Related Accession (Same CDS sequence) NM_001161706
Accession Version NM_001161706.1 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 516bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product frataxin, mitochondrial isoform 3 preproprotein
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL162730.26. Transcript Variant: Transcript Variant: This variant (3) uses an alternate exon in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGGTTAACGT GGCTCCTGTG GCTGTTCCAT CCCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_001155178.1
CDS221..736
Misc Feature(1)113..115(+)
Misc Feature(2)494..592(+)
Misc Feature(3)500..>697(+)
Exon (1)1..385
Gene:FXN
Gene Synonym:
Exon (2)386..483
Gene:FXN
Gene Synonym:
Exon (3)484..604
Gene:FXN
Gene Synonym:
Exon (4)605..702
Gene:FXN
Gene Synonym:
Exon (5)703..980
Gene:FXN
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_001161706
Organism Homo sapiens (human)
Definition Homo sapiens frataxin (FXN), transcript variant 3, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001161706

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGGTTAACGT GGCTCCTGTG GCTGTTCCAT CCCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Frataxin directly stimulates mitochondrial cysteine desulfurase by exposing substrate-binding sites, and a mutant Fe-S cluster scaffold protein with frataxin-bypassing ability acts similarly
J. Biol. Chem. 288 (52), 36773-36786 (2013)
Pandey A, Gordon DM, Pain J, Stemmler TL, Dancis A and Pain D.


book

Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus
PLoS ONE 8 (9), E74956 (2013)
Al-Mahdawi S, Sandi C, Mouro Pinto R and Pook MA.


book

His86 from the N-terminus of frataxin coordinates iron and is required for Fe-S cluster synthesis
Biochemistry 52 (35), 6085-6096 (2013)
Gentry LE, Thacker MA, Doughty R, Timkovich R and Busenlehner LS.


book

Frataxin: a protein in search for a function
J. Neurochem. 126 (SUPPL 1), 43-52 (2013)
Pastore A and Puccio H.


book

Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia
PLoS ONE 8 (5), E63958 (2013)
Plasterer HL, Deutsch EC, Belmonte M, Egan E, Lynch DR and Rusche JR.


book

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion
Am. J. Hum. Genet. 60 (5), 1251-1256 (1997)
Bidichandani,S.I., Ashizawa,T. and Patel,P.I.


book

The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase
Nat. Genet. 14 (2), 157-162 (1996)
Carvajal JJ, Pook MA, dos Santos M, Doudney K, Hillermann R, Minogue S, Williamson R, Hsuan JJ and Chamberlain S.


book

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
Science 271 (5254), 1423-1427 (1996)
Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M and Pandolfo M.


book

The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13
Am. J. Hum. Genet. 57 (5), 1061-1067 (1995)
Montermini L, Rodius F, Pianese L, Molto MD, Cossee M, Campuzano V, Cavalcanti F, Monticelli A, Palau F and Gyapay G.


book

Friedreich Ataxia
(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Bidichandani,S.I. and Delatycki,M.B.


 
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