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FLASH GENE
Symbol ATXN7L3 contributors: mct/ - updated : 26-10-2016
HGNC name ataxin 7-like 3
HGNC id 25416
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a SCA7 domain characterized by an atypical zinc-finger
  • HOMOLOGY
    Homologene
    FAMILY
  • SGF11 family
  • CATEGORY unknown/unspecified , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • with USP22, and ENY2 are required as cofactors for the full transcriptional activity by nuclear receptors
  • ATXN7L3 and ENY2 orchestrate activities of multiple deubiquitinating enzymes and imbalances in these activities likely potentiate human diseases including cancer
  • ATXN7L3 and ENY2, are necessary for deubiquitinase (DUB) activity towards histone H2Bub1 and other substrates
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    of KCNC2 and ATXN7L3B, leading to neurodevelopmental delay and cerebellar ataxia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS