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    FXN frataxin [ Homo sapiens (human) ]

    Gene ID: 2395, updated on 22-Apr-2017
    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]
    Orthologs
    Location:
    9q21.11
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (69035563..69100178)
    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 protein kinase cAMP-activated catalytic subunit gamma Neighboring gene tight junction protein 2 Neighboring gene family with sequence similarity 189 member A2 Neighboring gene BRAF-activated non-protein coding RNA Neighboring gene uncharacterized LOC105376074

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC57199

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    2 iron, 2 sulfur cluster binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ferric iron binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ferrous iron binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ferroxidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    iron chaperone activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    iron-sulfur cluster binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    adult walking behavior IEA
    Inferred from Electronic Annotation
    more info
     
    aerobic respiration IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    embryo development ending in birth or egg hatching IEA
    Inferred from Electronic Annotation
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of organ growth IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of release of cytochrome c from mitochondria IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    oxidative phosphorylation 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 
    proprioception IEA
    Inferred from Electronic Annotation
    more info
     
    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
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    frataxin, mitochondrial
    Names
    Friedreich ataxia protein
    NP_000135.2
    NP_001155178.1
    NP_852090.1

    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
      ENSP00000366482.3, OTTHUMP00000021428, ENST00000377270.7, OTTHUMT00000052568
      Conserved Domains (1) summary
      TIGR03422
      Location:94192
      mito_frataxin; frataxin
    2. NM_001161706.1NP_001155178.1  frataxin, mitochondrial isoform 3 preproprotein

      See identical proteins and their annotated locations for NP_001155178.1

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AL162730
      Consensus CDS
      CCDS55313.1
      UniProtKB/Swiss-Prot
      Q16595
      Related
      ENSP00000379650.3, ENST00000396364.7
      Conserved Domains (1) summary
      cl00238
      Location:94159
      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 ...
    3. 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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      69035563..69100178
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      71797667..71861767
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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