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Symbol ATXN1 contributors: mct /shn - updated : 13-12-2016
HGNC name ataxin 1
HGNC id 10548
Corresponding disease
SCA1 spinocerebellar ataxia 1
Location 6p22.3      Physical location : 16.299.343 - 16.761.721
Synonym name
  • spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)
  • spinocerebellar ataxia type 1 protein
  • Synonym symbol(s) ATX1, D6S504E, SCA1
    TYPE functioning gene
    STRUCTURE 462.38 kb     9 Exon(s)
    motif repetitive sequence   triplet
    text structure 6 to 39 repeats in normal people
    MAPPING cloned Y linked Y status confirmed
    Map pter - D6S1676 - D6S1605 - ATXN1 - D6S274 - D6S1667 - cen
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 10587 86.7 815 - Banfi (1994)
    9 - 10636 86.7 815 - Banfi (1994)
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellum highly Homo sapiensAdult
    Reproductivefemale systembreastmammary gland  
     female systemuterus   
     male systemprostate   
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiensAdult
    NervousPurkinje cell
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period embryo
    Text umbilical cord
  • a nuclear localization signal (NLS)
  • a CAG repeat in the 5' coding end
  • an AXH domain mediating neuronal integrity through its interaction with Gfi-1/Senseless proteins, altered in SCA1
  • implicated in RNA binding and self-association
  • a short stretch of AAs, residues 771778, at the C terminus, of particular interest since the interaction of certain proteins with this region is impacted by length of the polyglutamine and/or phosphorylation of Ser-776
  • mono polymer homomer , oligo
    interspecies ortholog to Atxn1, Mus musculus
    ortholog to Atxn1, Rattus norvegicus
    ortholog to atxn1b, Danio rerio
  • ATXN1 family
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies
    text in the nucleus of cerebellar Purkinje cells, almost exclusively nuclear in neurons (small nuclear bodies)
    basic FUNCTION
  • has a role at specific stages of both cerebellar and vertebral column development (
  • putatively involved in RNA metabolism
  • mediating transcriptional repression when tethered to DNA
  • antagonizes the neuronal survival function of myocyte enhancer factor-2
  • CTBP2 and ATXN1 were recruited to the CDH1 promoter in mammalian cells
  • occupies the promoter region of CDH1 and activates the promoter in a CTBP2-mediated transcriptional regulation manner
  • component of the Notch signalling pathway (
  • might participate in several Notch-controlled developmental and pathological processes
  • reduces histone acetylation, a post-translational modification of histones associated with enhanced transcription, and represses histone acetyl transferase-mediated transcription
  • function of ATXN1 in the modulation of PPP2R4 activity and the regulation of its holoenzyme composition
    metabolism nucleic
    a component
  • complexing with HDAC3 and functioning as a transcriptional repressor
  • promoter region of Hey1 (
  • RNA binding (inversely affected by the length of its polyglutamine tract)
    small molecule
  • binding to cerebellar leucine-rich nuclear protein (PHAP1), A1UP
  • YWHAB, YWHAE, YWHAH, YWHAZ mediated by AKT1 to modulate the neurotoxicity of SCA1
  • NCOR2
  • repressor Capicua(CIC) in its native complex to cause SCA1 neuropathology
  • ANP32A (modulates repression induced by ANP32A)
  • UBE2E1, through its AXH domain
  • glyceraldehyde-3-phosphate dehydrogenase, GAPDH (
  • cerebellar leucine-rich acidic nuclear protein, LANP (
  • A1Up (
  • polyglutamine binding protein 1, PQBP1 (
  • ubiquitin specific peptidase 7, USP7 (
  • 14-3-3 protein (
  • p80 coilin (
  • ataxin 1-like, ATXN1L (
  • C terminus of Hsc-70 interacting protein, CHIP (
  • Capicua, CIC (
  • histone deacetylase-4, HDAC4 and myocyte enhancer factor 2, MEF2 (
  • ubiquitin-conjugating enzyme E2E 1, UBE2E1 (
  • CBF1 (
  • PPP2CA is the pS776-ATXN1 phosphatase in the mammalian cerebellum
  • binding of 14-3-3 to cytoplasmic ATXN1 impeded its transport to the nucleus, suggesting that 14-3-3 must disassociate from ATXN1 for transport of ATXN1 to the nucleus
  • CIC is an ATXN1 interactor
  • activates the expression of DRD2 and the mutation within ATXN1 compromises this function
  • ATXN1 binds to the transcriptional repressor Capicua (CIC), and the interaction plays a critical role in SCA1 pathogenesis
  • RNA-binding protein PUMILIO1 (PUM1) not only directly regulates ATXN1 but also plays an unexpectedly important role in neuronal function
  • cell & other
    Other phosphorylated at Ser-776, in the cytoplasm, creating a binding site for members of a family of small acidic proteins collectively designated as the 14-3-3 proteins
    sumoylation is dependent on nuclear localization and phosphorylation
    SUMO modification of ATXN1 promotes the aggregation of ATXN1 (Ryu 2010)
    probably phosphoryalted by cAMP-dependent protein kinase in the cerebellum (Jorgensen 2009)
    self-association seems to be necessary for formation of nuclear aggregates which are associated with pathogenesis
    in the nucleus, dephosphorylation of pS776-ATXN1 by PPP2CA regulates the interaction of ATXN1 with the splicing factors RBM17 and U2AF2
    corresponding disease(s) SCA1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    partial loss of function of ATXN1 contributes to SCA1 pathogenesis (Crespo-Barreto 2010)
    Variant & Polymorphism other
  • increased number of CAG repeats in a subset of oligozoospermia patients (Lai 2009)
  • Candidate gene
    Therapy target