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 |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]. |
| Disorder MIM: | |
| Disorder Html: | Friedreich ataxia, 229300 (3); Friedreich ataxia with retained reflexes, 229300 (3) |
mRNA and Protein(s)
| mRNA | Protein | Name |
|---|---|---|
| NM_000144.4 | NP_000135.2 | frataxin, mitochondrial isoform 1 preproprotein |
| NM_001161706.1 | NP_001155178.1 | frataxin, mitochondrial isoform 3 preproprotein |
| NM_181425.2 | NP_852090.1 | frataxin, mitochondrial isoform 2 preproprotein |
| Bos taurus (cattle) | FXN | NP_001074196.1 |
| Gallus gallus (chicken) | FXN | XP_424827.3 |
| Homo sapiens (human) | FXN | NP_000135.2 |
| Pan troglodytes (chimpanzee) | FXN | XP_001137864.2 |
| Danio rerio (zebrafish) | fxn | NP_001076485.1 |
| Arabidopsis thaliana (thale cress) | FH | NP_192233.2 |
| Xenopus tropicalis (tropical clawed frog) | LOC100497789 | XP_004910856.1 |
| FXN | XP_001093449.1 | |
| Mus musculus (house mouse) | Fxn | NP_032070.1 |
| Rattus norvegicus (Norway rat) | Fxn | NP_001178881.1 |
| Canis lupus familiaris (dog) | FXN | NP_001103428.1 |
| Oryza sativa (rice) | Os01g0783600 | NP_001044455.2 |
Related articles in PubMed
Insights on the conformational dynamics of human frataxin through modifications of loop-1.
Noguera ME, Aran M, Smal C, Vazquez DS, Herrera MG, Roman EA, Alaimo N, Gallo M, Santos J
Archives of biochemistry and biophysics636123-137(2017 Dec)
The N-Terminus of Iron-Sulfur Cluster Assembly Factor ISD11 Is Crucial for Subcellular Targeting and Interaction with l-Cysteine Desulfurase NFS1.
Friemel M, Marelja Z, Li K, Leimk?hler S
Biochemistry56(12)1797-1808(2017 03)
Alleviating GAA Repeat Induced Transcriptional Silencing of the Friedreich's Ataxia Gene During Somatic Cell Reprogramming.
Polak U, Li Y, Butler JS, Napierala M
Stem cells and development25(23)1788-1800(2016 12)
Architecture of the Human Mitochondrial Iron-Sulfur Cluster Assembly Machinery.
Gakh O, Ranatunga W, Smith DY 4th, Ahlgren EC, Al-Karadaghi S, Thompson JR, Isaya G
The Journal of biological chemistry291(40)21296-21321(2016 Sep)
Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
Yang X, Coulombe-Huntington J, Kang S, Sheynkman GM, Hao T, Richardson A, Sun S, Yang F, Shen YA, Murray RR, Spirohn K, Begg BE, Duran-Frigola M, MacWilliams A, Pevzner SJ, Zhong Q, Trigg SA, Tam S, Ghamsari L, Sahni N, Yi S, Rodriguez MD, Balcha D, Tan G, Costanzo M, Andrews B, Boone C, Zhou XJ, Salehi-Ashtiani K, Charloteaux B, Chen AA, Calderwood MA, Aloy P, Roth FP, Hill DE, Iakoucheva LM, Xia Y, Vidal M
Cell164(4)805-17(2016 Feb)
GeneRIFs: Gene References Into Functions What's a GeneRIF?
the effect of alterations in loop-1, a stretch presumably essential for FXN function, on the conformational stability and dynamics of the native state.
Title: Insights on the conformational dynamics of human frataxin through modifications of loop-1.
The NFS1/ISD11 complex further interacts with scaffold protein ISCU and regulator protein frataxin, thereby forming a quaternary complex for Fe-S cluster formation.
Title: The N-Terminus of Iron-Sulfur Cluster Assembly Factor ISD11 Is Crucial for Subcellular Targeting and Interaction with l-Cysteine Desulfurase NFS1.
differentiation of these induced pluripotent stem cells into neurons also results in resilencing of the FXN gene.
Title: Alleviating GAA Repeat Induced Transcriptional Silencing of the Friedreich's Ataxia Gene During Somatic Cell Reprogramming.
Molecular dynamics flexible fitting of protein structures docked into the EM map of the model revealed a [FXN(42-210)]24.[NFS1]24.[ISD11]24.[ISCU]24 complex, consistent with the measured 1:1:1:1 stoichiometry of its four components.
Title: Architecture of the Human Mitochondrial Iron-Sulfur Cluster Assembly Machinery.
By interphase, FISH we found that in comparison to the normal Frataxin sequence the replication of expanded alleles is slowed or delayed. According to molecular combing, origins never fired within the normal Frataxin allele.
Title: The Replication of Frataxin Gene Is Assured by Activation of Dormant Origins in the Presence of a GAA-Repeat Expansion.
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 | OHu22988 |
|
| Clone ID Related Accession (Same CDS sequence) | NM_000144.4 | |
| Accession Version | NM_000144.4 Latest version! | Documents for ORF clone product in default 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 | |
| Insert Structure | linear | |
| Update Date | 2017-12-11 | |
| Organism | Homo sapiens(human) | |
| Product | frataxin, mitochondrial isoform 1 preproprotein | |
| Comment | 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 NM_000144.3. 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. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.272596.1, SRR1803614.30559.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_000135.2 |
| CDS | 221..853 |
| Misc Feature(1) | 113..115 |
| Misc Feature(2) | order(494..496,518..523,530..532,542..544,551..556,584..586,590..592) |
| Misc Feature(3) | 500..796 |
| Exon (1) | 1..385 |
| Exon (2) | 386..483 |
| Exon (3) | 484..604 |
| Exon (4) | 605..702 |
| Exon (5) | 703..7168 |
| Translation |
Target ORF information:
Target ORF information:
|
 NM_000144.4 |
ORF Insert Sequence:
1 | ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG |
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_181425.2 | |
| Accession Version | NM_181425.2 Latest version! | Documents for ORF clone product in default 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 | |
| Insert Structure | linear | |
| Update Date | 2017-12-11 | |
| Organism | Homo sapiens(human) | |
| Product | frataxin, mitochondrial isoform 2 preproprotein | |
| Comment | 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 NM_181425.1. 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. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.270376.1, SRR1163657.196832.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_852090.1 |
| CDS | 221..811 |
| Misc Feature(1) | 113..115 |
| Misc Feature(2) | order(494..496,518..523,530..532,542..544,551..556,584..586,590..592) |
| Misc Feature(3) | 500..>706 |
| Exon (1) | 1..385 |
| Exon (2) | 386..483 |
| Exon (3) | 484..604 |
| Exon (4) | 605..710 |
| Exon (5) | 711..7176 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_181425.2 |
ORF Insert Sequence:
1 | ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG |
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_001161706.1 | |
| Accession Version | NM_001161706.1 Latest version! | Documents for ORF clone product in default 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 | |
| Insert Structure | linear | |
| Update Date | 2016-07-09 | |
| 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. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_001155178.1 |
| CDS | 221..736 |
| Misc Feature(1) | 113..115 |
| Misc Feature(2) | order(494..496,518..523,530..532,542..544,551..556,584..586,590..592) |
| Misc Feature(3) | 500..>697 |
| Exon (1) | 1..385 |
| Exon (2) | 386..483 |
| Exon (3) | 484..604 |
| Exon (4) | 605..702 |
| Exon (5) | 703..980 |
| Translation |
Target ORF information:
Target ORF information:
|
NM_001161706.1 |
ORF Insert Sequence:
1 | ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
 |
Insights on the conformational dynamics of human frataxin through modifications of loop-1. |
|
The N-Terminus of Iron-Sulfur Cluster Assembly Factor ISD11 Is Crucial for Subcellular Targeting and Interaction with l-Cysteine Desulfurase NFS1. |
|
Alleviating GAA Repeat Induced Transcriptional Silencing of the Friedreich's Ataxia Gene During Somatic Cell Reprogramming. |
|
Architecture of the Human Mitochondrial Iron-Sulfur Cluster Assembly Machinery. |
|
Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. |