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FLASH GENE
Symbol PIK3CD contributors: mct - updated : 31-08-2017
HGNC name phosphoinositide-3-kinase, catalytic, delta polypeptide
HGNC id 8977
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a pro-rich region
  • a basic leucine zipper-like domain
  • a PI3k/PI4k domain
    • HOMOLOGY
    Homologene
    FAMILY PI3/PI4-kinase family
    CATEGORY enzyme , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    basic FUNCTION
  • regulating cellular responses
  • is a key player in NK-cell development and cytokine secretion
  • epistatic relationship between PIK3CD and PTEN (pMID: 18178811)
  • important role for PIK3CD in regulating B-cell responses to TNFSF13B
  • regulates T-cell cytokine production during primary and secondary immune responses (pMID: 20081091)
  • new function for PIK3CD as part of the membrane fission machinery required at the trans-Golgi network (TGN) for the selective trafficking and secretion of cytokines in macrophages
  • is a lipid kinase of the phosphoinositide 3-kinase class 1A family and involved in early signaling events of leukocytes regulating proliferation, differentiation and survival
  • is essential for tumor clearance mediated by cytotoxic T lymphocytes
  • role in the development and activation of B lymphocytes through various downstream effectors
  • can promote proliferation of diffuse large B cell lymphoma (DLBCL) cells
  • PIK3CD increase genomic instability in normal and neoplastic B cells by an AICDA-dependent mechanism
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component heterodimer of a p110 (catalytic) and a p85 (regulatory) subunit
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding p85 adaptor proteins (PIK3R1, PIK3R2, PIK3R3)
  • interacts with ERAS
  • TNF stimulation induces PIK3CD expression in human ECs (endothelial cells) and synovial fibroblasts, but not in leucocytes, through transcription start sites located in a novel promoter region in PIK3CD
  • mediates double-stranded (ds) RNA-induced upregulation of CD274 without affecting the activation of NFKB1
  • PIK3CD pathway regulates AICDA by suppressing its expression in B cells
    • cell & other associating with activated receptor protein-tyrosine kinases
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IMD14
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
          --over  
    in blast cells from acute myeloid leukemia
    constitutional       loss of function
    in macrophages led to reduced AKT1 and RAC1 activation, but paradoxically to increased RHOA and PTEN activity
    Susceptibility to primary B-cell immunodeficiency
    Variant & Polymorphism other mutated in primary B-cell immunodeficiency
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    could be druggable in the therapy of diffuse large B cell lymphoma
    cancerhemopathy 
    potential therapeutic target in acute myeloid leukemia
    immunologyinflammatory 
    PI3Kδ inhibition could be chondroprotective in rheumatoid arthritis (RA) by modulating synoviocyte growth, migration, and invasion
    ANIMAL & CELL MODELS