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FLASH GENE
Symbol ANKRD11 contributors: mct - updated : 16-01-2014
HGNC name ankyrin repeat domain 11
HGNC id 21316
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text liver
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal signaling motif (NLS1 and NLS2) that is essential for both nuclear/subnuclear localization and transcription corepressor function (Zhang 2007)
  • five ankyrin repeats
  • a leucine-rich nuclear export signal (NES) at residues 2415-2424 (both the NLSs and NES sequences are capable of mediating nuclear import and export of heterologous protein, respectively)
    • HOMOLOGY
    Homologene
    FAMILY
  • ankyrin repeats containing cofactors (ANCOs)family
    • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text subnuclear localization is regulated by both nuclear import and export signals, and that proper subcellular localization is essential for its corepressor function (Zhang 2007)
    basic FUNCTION
  • nuclear receptor corepressor that regulates receptor-mediated transcription through interactions with p160 coactivators and histone deacetylases (Zhang 2007)
  • may recruit histone deacetylases to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation (Zhang 2004)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA binding
    small molecule
    protein
  • TP53-interacting protein that enhanced the transcriptional activity of TP53 (Neilsen 2008)
  • binds to the conserved Per-Arnt-Sim (PAS) region of the p160 coactivators (Zhang 2004)
  • colocalizes and interacts with histone deacetylases (Zhang 2004)
  • also interact with the co-activator TADA3L (repress TADA3L-mediated transcriptional co-activation on nuclear receptors, whereas ANKRD11 stimulated TP53-mediated transactivation) (Li 2008)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) KBG , DEL16Q24
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    facial dysmorphisms comprising prominent forehead, large ears, smooth philtrum, pointed chin and wide mouth, variable cognitive impairment, autism spectrum disorder, structural anomalies of the brain, seizures and neonatal thrombocytopenia (Willemsen 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS