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FLASH GENE
Symbol SETX contributors: mct/npt - updated : 16-09-2014
HGNC name senataxin
HGNC id 445
Corresponding disease
ALS4 familial amyotrophic lateral sclerosis 4
AOA2 ataxia-ocular apraxia 2, early onset
Location 9q34.13      Physical location : 135.136.827 - 135.230.372
Synonym name
  • transcriptional transactivator senataxin
  • SEN1 homolog
  • Synonym symbol(s) 203M2.2, DKFZp781B151, FLJ12840, FLJ43459, KIAA0625, SCAR1, bA479K20.2, AOA2
    EC.number 3.6.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 95.29 kb     26 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 11016 302.7 2677 - 2004 14770181
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
    Lymphoid/Immunelymph node    
     spleen    
    Nervousbrain    
    Reproductivefemale systembreastmammary gland  
     male systemtestis   
    Respiratoryrespiratory tractlarynx   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • C terminus with a classical seven-motif domain found in the superfamily I of helicases, suggesting that it is a putative DNA/RNA helicase (Suraweera 2009)
  • HOMOLOGY
    interspecies homolog to yeast S.Pombe Sen1p
    intraspecies homolog to RENT1,IGHMBP2
    Homologene
    FAMILY
  • DNA2/NAM7 helicase family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    text
  • SETX and EXOSC9 co-localize in nuclear foci that constitute sites of R-loop formation generated by transcription and replication machinery collisions
  • basic FUNCTION
  • involved in splicing mechanism
  • eliminating the production of nonsense-containing RNAs, essential for embryonic viability
  • involved in the DNA damage response (Suraweera 2007)
  • play a role in the response to oxidative stress, and plays a role in coordinating transcriptional events, in addition to its role in DNA repair (Suraweera 2009)
  • possible involvement of SETX in telomere stability
  • role of senataxin in modulating the expression levels and signalling activity of fibroblast growth factor 8
  • acts to resolve these R-loop structures and by so doing allows access of the 5 prime-3 prime exonuclease XRN2 at 3 prime cleavage poly(A) sites
  • colocalizes with TP53BP1, a key DNA damage response protein, and with other factors involved in DNA repair
  • is targeted to R loops, where it plays an important role at the interface of transcription and the DNA damage response
  • plays an important role in maintaining genome integrity by coordination of transcription, DNA replication, and the DNA damage response
  • is essential for spermatogenesis and it functions at two stages in meiosis during crossing-over in homologous recombination and in meiotic sex chromosome inactivation
  • key roles for senataxin in coordinating meiotic crossing-over with transcription and in gene silencing to protect the integrity of the genome
  • involved in the response to oxidative stress and likely resolve R loops formed at transcription termination sites or at sites of collisions between the transcription and replication machineries
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP binding
  • protein
  • interacts with several proteins that function in different facets of RNA metabolism (Suraweera 2009)
  • also interacts with RNA polymerase II (there is significantly less RNA polymerase II binding to the SOD1, IMPDH2, CYC and RPL36 genomic loci in AOA2) (Suraweera 2009)
  • key role of senataxin in neuronal differentiation through FGF8 signalling
  • EXOSC9 is a core component of the exosome, a SETX-interacting protein and this interaction depends on modification of SETX by sumoylation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AOA2 , ALS4
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS