Homo sapiens Gene: FXN
Summary
InnateDB Gene IDBG-69240.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FXN
Gene Name frataxin
Synonyms CyaY; FA; FARR; FRDA; X25;
Species Homo sapiens
Ensembl Gene ENSG00000165060
Encoded Proteins
frataxin
frataxin
frataxin
frataxin
frataxin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:69035259-69100178
Strand Forward strand
Band q21.11
Transcripts
ENST00000377270 ENSP00000366482
ENST00000396366 ENSP00000379652
ENST00000396364 ENSP00000379650
ENST00000498653 ENSP00000418015
ENST00000484259 ENSP00000419243
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 6 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004322 ferroxidase activity
GO:0005515 protein binding
GO:0008198 ferrous iron binding
GO:0008199 ferric iron binding
GO:0034986 iron chaperone activity
GO:0051536 iron-sulfur cluster binding
GO:0051537 2 iron, 2 sulfur cluster binding
Biological Process
GO:0006119 oxidative phosphorylation
GO:0006783 heme biosynthetic process
GO:0006811 ion transport
GO:0006879 cellular iron ion homeostasis
GO:0007005 mitochondrion organization
GO:0007628 adult walking behavior
GO:0008284 positive regulation of cell proliferation
GO:0009060 aerobic respiration
GO:0009792 embryo development ending in birth or egg hatching
GO:0010039 response to iron ion
GO:0010722 regulation of ferrochelatase activity
GO:0016226 iron-sulfur cluster assembly
GO:0016540 protein autoprocessing
GO:0018283 iron incorporation into metallo-sulfur cluster
GO:0019230 proprioception
GO:0030307 positive regulation of cell growth
GO:0040015 negative regulation of multicellular organism growth
GO:0043066 negative regulation of apoptotic process
GO:0044281 small molecule metabolic process
GO:0046621 negative regulation of organ growth
GO:0048554 positive regulation of metalloenzyme activity
GO:0051347 positive regulation of transferase activity
GO:0051349 positive regulation of lyase activity
GO:0051353 positive regulation of oxidoreductase activity
GO:0055114 oxidation-reduction process
GO:0070301 cellular response to hydrogen peroxide
GO:0090201 negative regulation of release of cytochrome c from mitochondria
Cellular Component
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Mitochondrial iron-sulfur cluster biogenesis pathway
Metabolism of proteins pathway
Metabolism pathway
Mitochondrial protein import pathway
KEGG
INOH
PID BIOCARTA
PID NCI
HIF-2-alpha transcription factor network
Cross-References
SwissProt Q16595
TrEMBL C9JAX1
UniProt Splice Variant
Entrez Gene 2395
UniGene
RefSeq NM_000144 NM_181425 NM_001161706
HUGO HGNC:3951
OMIM 606829
CCDS CCDS6626 CCDS43834 CCDS55313
HPRD 06013
IMGT
EMBL AF028240 AL162730 BC023633 BC048097 U43747 U43748 U43749 U43750 U43751 U43752 U43753 U93173 Y13751
GenPept AAA98508 AAA98509 AAA98510 AAB84047 AAD00734 AAH23633 AAH48097 CAA74077 CAH71829
RNA Seq Atlas 2395