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FLASH GENE
Symbol ANKS1B contributors: mct/npt/pgu - updated : 09-03-2010
HGNC name ankyrin repeat and sterile alpha motif domain containing 1B
HGNC id 24600
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two tandem Eph-related sterile alpha motifs (SAMs)
  • at C-terminus, two closely juxtaposed sterile alpha motif (SAM) domains (observed disparity between the thermal stabilities of the two SAM domains suggests a mechanism whereby the second SAM domain decouples from the first SAM domain to facilitate translocation of ANKS1B to the nucleus) and a phosphotyrosine binding domain
    • HOMOLOGY
    interspecies ortholog to murine Anks1b
    Homologene
    FAMILY
  • ankyrin repeat and sterile alpha motif domain-containing (Anks) protein family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text membrane-associated
    basic FUNCTION
  • may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells
  • possible role in normal brain development and in the pathogenesis of Alzheimer disease
  • possible function for ANKS family proteins as scaffolding proteins of the EPHA8 signaling pathway
  • neuronal scaffolding protein, believed to act as a convener of signals arising at postsynaptic densities
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • possible function for ANKS family proteins (ANKS1A, ANKS1B) as scaffolding proteins of the EPHA8 signaling pathway
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in pre-B acute lymphocytic leukemia (ALL) cells carrying the t(1;19) translocation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS