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FLASH GENE
Symbol ATXN7 contributors: mct/shn - updated : 30-04-2013
HGNC name ataxin 7
HGNC id 10560
Corresponding disease
SCA7 spinocerebellar ataxia 7
Location 3p14.1      Physical location : 63.850.232 - 63.989.134
Synonym name spinocerebellar ataxia type 7 protein
Synonym symbol(s) OPCA3, ADCA2, ATX7, ADCAII
DNA
TYPE functioning gene
STRUCTURE 138.91 kb     13 Exon(s)
regulatory sequence Binding site
motif repetitive sequence
text structure poly-Gln region highly polymorphic (7 to 17 repeats)
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 7242 - 892 - 2010 19843541
also called SCA7a
9 - 6422 - 747 - 2010 19843541
also called SCA7c
13 - 6866 - 945 - 2010 19843541
also called SCA7b
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon highly
 pharynx   highly
Lymphoid/Immunethymus   highly
Nervousbrainhindbraincerebellum  
 brainlimbic systemhippocampus  
Reproductivemale systemtestis   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Muscularstriatumskeletal  
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
NervousPurkinje cell
cell lineage
cell lines
fluid/secretion
at STAGE
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
    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
  • 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
  • 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