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FXN frataxin [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu22634 NM_181425 Homo sapiens frataxin (FXN), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $159.00
OHu22696 NM_001161706 Homo sapiens frataxin (FXN), transcript variant 3, mRNA. pcDNA3.1+-DYK On-demand 7-9 $159.00
OHu22988 NM_000144 Homo sapiens frataxin (FXN), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu22634C NM_181425 Homo sapiens frataxin (FXN), transcript variant 2, mRNA. Customized vector On-demand 7-9 $209.00
OHu22696C NM_001161706 Homo sapiens frataxin (FXN), transcript variant 3, mRNA. Customized vector On-demand 7-9 $209.00
OHu22988C NM_000144 Homo sapiens frataxin (FXN), transcript variant 1, mRNA. Customized vector In-stock 5-7 $149.00

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Related Services

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].
Disorder

MIM: 606829

Friedreich ataxia, 229300 (3); Friedreich ataxia with retained

mRNA Protein Product Sequence Price Select
NM_000144, 239787167 NP_000135, 31077081 frataxin, mitochondrial isoform 1 preproprotein ORF Sequence $159.00
NM_001161706, 239787197 NP_001155178, 239787198 frataxin, mitochondrial isoform 3 preproprotein ORF Sequence $250.00
NM_181425, 239787185 NP_852090, 31742516 frataxin, mitochondrial isoform 2 preproprotein ORF Sequence $250.00
Pathway Interaction Database
hif2pathwayHIF-2-alpha transcription factor network
Reactome
REACT_17015Metabolism of proteins
REACT_111217Metabolism
REACT_118595Mitochondrial protein import
REACT_150353Mitochondrial iron-sulfur cluster biogenesis
Homo sapiens (human)FXNNP_000135.2
Pan troglodytes (chimpanzee)FXNXP_001137864.2
Macaca mulatta (Rhesus monkey)FXNXP_001093449.1
Canis lupus familiaris (dog)FXNNP_001103428.1
Bos taurus (cattle)FXNNP_001074196.1
Mus musculus (house mouse)FxnNP_032070.1
Rattus norvegicus (Norway rat)FxnNP_001178881.1
Gallus gallus (chicken)FXNXP_424827.3
Danio rerio (zebrafish)fxnNP_001076485.1
Arabidopsis thaliana (thale cress)FHNP_192233.2
Xenopus (Silurana) tropicalis (western clawed frog)LOC100497789XP_004910856.1
Process
IDNameEvidence
GO:0006119oxidative phosphorylationIEA
GO:0006783heme biosynthetic processNAS
GO:0006811ion transportIEA
GO:0006879cellular iron ion homeostasisIMP
GO:0007005mitochondrion organizationIEA
GO:0007628adult walking behaviorIEA
GO:0008284positive regulation of cell proliferationIMP
GO:0009060aerobic respirationIEA
GO:0009792embryo development ending in birth or egg hatchingIEA
GO:0010039response to iron ionIMP
GO:0010722regulation of ferrochelatase activityIDA
GO:0016540protein autoprocessingIDA
GO:0018283iron incorporation into metallo-sulfur clusterIDA
GO:0019230proprioceptionIEA
GO:0030307positive regulation of cell growthIMP
GO:0040015negative regulation of multicellular organism growthIEA
GO:0043066negative regulation of apoptotic processIMP
GO:0044281small molecule metabolic processTAS
GO:0046621negative regulation of organ growthIEA
GO:0048554positive regulation of metalloenzyme activityIMP
GO:0051347positive regulation of transferase activityIMP
GO:0051349positive regulation of lyase activityIDA
GO:0051349positive regulation of lyase activityIMP
GO:0051353positive regulation of oxidoreductase activityIMP
GO:0070301cellular response to hydrogen peroxideIDA
GO:0090201negative regulation of release of cytochrome c from mitochondriaIMP
Component
IDNameEvidence
GO:0005739mitochondrionIDA
GO:0005759mitochondrial matrixISS
GO:0005759mitochondrial matrixNAS
GO:0005759mitochondrial matrixTAS
GO:0005829cytosolIDA
Function
IDNameEvidence
GO:0004322ferroxidase activityIDA
GO:0005515protein bindingIPI
GO:0008198ferrous iron bindingIDA
GO:0008199ferric iron bindingIDA
GO:0034986iron chaperone activityIDA
GO:0051536iron-sulfur cluster bindingIDA
GO:00515372 iron, 2 sulfur cluster bindingIDA
GeneCards FXN
UniProt Q16595
MIM 606829
Ensembl ENSG00000165060
HGNC 3951
HPRD 06013

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

Interactant

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