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FLASH GENE
Symbol ANKHD1 contributors: mct - updated : 30-03-2016
HGNC name ankyrin repeat and KH domain containing 1
HGNC id 24714
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • multiple ankyrin repeat domains
  • a single KH-domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text might be shuttling between cytoplasm and nucleus
    basic FUNCTION
  • playing a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells
  • is a novel cofactor for YAP1 required for optimal YAP1 activity during development and oncogenesis
  • plays an important role in the proliferation and cell cycle progression of multiple myeloma (MM) cells
  • potentially regulates multiple cellular functions through its ankyrin-repeat domains
  • may be an oncogene and participate in the leukemia cell phenotype
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • member of the Hippo signaling pathway
  • a component
  • complexes with YAP1 and is required for the full activity of YAP1
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • is a positive regulator of YAP1 and promotes cell growth and cell cycle progression through Cyclin A upregulation
  • promotes Multiple myeloma growth by repressing CDKN1A a potent cell cycle regulator
  • interaction between ANKHD1 and SIVA1, and ANKHD1 binds to SIVA1 and has an important role in inducing leukemia cell proliferation and migration via the STMN1 pathway
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    with EIF4EBP3 in leukemia
    tumoral     --over  
    in primary acute leukemia
    tumoral     --over  
    in multiple myeloma cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS