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Symbol ATXN10 contributors: mct - updated : 15-05-2013
HGNC name ataxin 10
HGNC id 10549
Corresponding disease
NPHP17 nephronophthisis 17
SCA10 spinocerebellar ataxia 10
Location 22q13.31      Physical location : 46.067.677 - 46.241.186
Synonym name
  • like mouse brain protein E46
  • brain protein E46 homolog
  • Synonym symbol(s) E46L, ATXX, FLJ37990
    DNA
    TYPE functioning gene
    STRUCTURE 173.14 kb     12 Exon(s)
    motif repetitive sequence   triplet
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2963 - 475 - 2009 19171184
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Endocrinethyroid   highly
    Lymphoid/Immunethymus   highly
     tonsils   highly
    Nervousbraindiencephalonhypothalamus  
    Respiratoryrespiratory tractlarynx  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • C-terminal armadillo repeats
  • conjugated ubiquitinated
    HOMOLOGY
    interspecies homolog to murine Sca10
    Homologene
    FAMILY
  • armadillo repeat proteins
  • ataxin-10 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nuclear envelope
    basic FUNCTION
  • playing an essential role for survival of cerebellar neurons
  • having a role in pancreatic beta cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with OGT (O-linked GlcNAc transferase)
  • interacting with GNB2 (coexpression of ataxin 10 and GNB2 potently activated the Ras-MAP kinase-Elk-1 cascade, a mechanism for inducing neuritogenesis
  • IQCB1-Ataxin10 interaction
  • PLK1 is one of ATXN10 binding partners
  • cell & other
    REGULATION
    Phosphorylated by PLK1 (PLK1 phosphorylation of Ataxin-10 influences its degradation and cytokinesis, which may provide mechanistic insight to SCA10 pathogenesis)
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA10 , NPHP17
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS