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FLASH GENE
Symbol ATXN7 contributors: mct/shn - updated : 10-03-2020
HGNC name ataxin 7
HGNC id 10560
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • bipartite nuclear localization signal (NLS) consensus sequence
  • N terminal CAG polyglutamine region with 4 to 35 repeats in normal alleles
  • a proline rich region
  • a SCA7 domain characterized by an atypical zinc-finger
  • a conserved phosphoprotein interaction motif also found in arrestins
  • C-terminal region absolutely required for complete nuclear localization and for CRX transcription interference
    • HOMOLOGY
    interspecies homolog to C.elegans y119c1bd
    ortholog to yeast Sgf73
    Homologene
    FAMILY
  • ataxin 7 family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleolus
    text
  • localizes to the nucleus, and in the cytoplasm, and its expression levels and nuclear to cytoplasmic ratio change dynamically during the cell cycle or morphological transformation
  • Ataxin-7 subcellular distribution changes dramatically during the cell cycle
    • basic FUNCTION
  • involved in nucleolar function and in transcriptional regulation
  • may be playing a role in poly(Q)-mediated histone acetylase depletion
  • mediating a direct interaction of STAGA with the CRX (cone-rod homeobox) transactivator of photoreceptor genes
  • physiological function of ATXN7 in the regulation of cytoskeletal dynamics
  • ATXN7 stabilizes microtubules, having also physiological function in the cytosol
  • transcriptional coactivator harboring chromatin remodeling activities, and plays a role in the differentiation of photoreceptors and Purkinje neurons
    • CELLULAR PROCESS nucleotide, transcription, regulation
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text nuclear organization-biogenesis
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • with SH3D5 /SH3P12GPS (expressed in Purkinje cells)
  • integral component of the mammalian STAGA (PCAF-TAF9-ADA-SUPT3H acetyltransferase) transcription coactivator complex
  • subunit of GCN5 histone acetyltransferase-containing complexes
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
  • MEGF8, LTBP4, CEP72, NOC2L
  • RELN is a target of polyglutamine expanded ATXN7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes
  • inhibition of KAT2A protein catalytic activity by polyglutamine-expanded ATXN7
  • HDAC3 physically interacts with ATXN7, and HDAC3 stabilized ataxin-7 and increased modification of the protein
    • cell & other
  • new target for SUMOylation (SUMOylation of lysine 257 in polyQ expanded ATXN7 modulates the aggregation properties and toxicity of the mutant protein, suggesting that this modification plays a role in the pathogenesis of SCA7)
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of Gcn5 in Purkinje cells in mice expressing wild-type (wt) Atxn7, however, causes only mild ataxia and does not lead to the early lethality observed in SCA7 mice