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FXN frataxin [ Homo sapiens (human) ]

Gene ID: 2395, updated on 5-Aug-2018

Summary

Official Symbol
FXNprovided by HGNC
Official Full Name
frataxinprovided by HGNC
Primary source
HGNC:HGNC:3951
See related
Ensembl:ENSG00000165060 MIM:606829; Vega:OTTHUMG00000019977
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FA; X25; CyaY; FARR; FRDA
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]
Expression
Ubiquitous expression in liver (RPKM 1.7), adrenal (RPKM 1.7) and 25 other tissues See more
Orthologs

Genomic context

See FXN in Genome Data Viewer
Location:
9q21.11
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (69035563..69079077)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (71650479..71715094)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 beta Neighboring gene uncharacterized LOC101927069 Neighboring gene Friedreich ataxia repeat instability region Neighboring gene protein kinase cAMP-activated catalytic subunit gamma Neighboring gene tight junction protein 2 Neighboring gene BRAF-activated non-protein coding RNA

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC57199

Gene Ontology Provided by GOA

Function Evidence Code Pubs
2 iron, 2 sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
2 iron, 2 sulfur cluster binding IDA
Inferred from Direct Assay
more info
PubMed 
ferric iron binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ferric iron binding IDA
Inferred from Direct Assay
more info
PubMed 
ferrous iron binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ferrous iron binding IDA
Inferred from Direct Assay
more info
PubMed 
ferroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ferroxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
iron chaperone activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron chaperone activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular iron ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular iron ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to hydrogen peroxide IDA
Inferred from Direct Assay
more info
PubMed 
heme biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
ion transport IEA
Inferred from Electronic Annotation
more info
 
iron incorporation into metallo-sulfur cluster IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron incorporation into metallo-sulfur cluster IDA
Inferred from Direct Assay
more info
PubMed 
iron-sulfur cluster assembly IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of release of cytochrome c from mitochondria IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of aconitate hydratase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of catalytic activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of lyase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of lyase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of succinate dehydrogenase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein autoprocessing IDA
Inferred from Direct Assay
more info
PubMed 
regulation of ferrochelatase activity IDA
Inferred from Direct Assay
more info
PubMed 
response to iron ion IMP
Inferred from Mutant Phenotype
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
L-cysteine desulfurase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial matrix NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
frataxin, mitochondrial
Names
Friedreich ataxia protein
NP_000135.2
NP_852090.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008845.2 RefSeqGene

    Range
    5001..48515
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000144.4NP_000135.2  frataxin, mitochondrial isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_000135.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL162730, BC023633, U43747
    Consensus CDS
    CCDS6626.1
    UniProtKB/Swiss-Prot
    Q16595
    UniProtKB/TrEMBL
    A0A0S2Z3G4
    Related
    ENSP00000419243.2, OTTHUMP00000021428, ENST00000484259.2, OTTHUMT00000052568
    Conserved Domains (1) summary
    TIGR03422
    Location:94192
    mito_frataxin; frataxin
  2. NM_181425.2NP_852090.1  frataxin, mitochondrial isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_852090.1

    Status: REVIEWED

    Description
    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.
    Source sequence(s)
    AA232366, AL162730, BC023633, BF058880
    Consensus CDS
    CCDS43834.1
    UniProtKB/Swiss-Prot
    Q16595
    Related
    ENSP00000379652.2, OTTHUMP00000215689, ENST00000396366.6, OTTHUMT00000355969
    Conserved Domains (1) summary
    cl00238
    Location:94162
    Frataxin; Frataxin is a nuclear-encoded mitochondrial protein implicated in Friedreich's ataxia (FRDA), an human autosomal recessive neurodegenerative disease; Frataxin is found in eukaryotes and in purple bacteria; lack of frataxin causes iron to accumulate in ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    69035563..69079077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001161706.1: Suppressed sequence

    Description
    NM_001161706.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
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