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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
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveliver   moderately
Reproductivefemale systemovary  highly
 male systemtestis  highly
Respiratorylung   highly
Urinarykidney   moderately
cell lineage
cell lines
fluid/secretion
at STAGE
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