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FLASH GENE
Symbol PIK3AP1 contributors: mct - updated : 15-01-2020
HGNC name phosphoinositide-3-kinase adaptor protein 1
HGNC id 30034
Location 10q24.1      Physical location : 98.353.070 - 98.480.279
Synonym name
  • B cell adaptor protein
  • B-cell adapter for phosphoinositide 3-kinase
  • B-cell phosphoinositide 3-kinase adapter protein 1
  • Synonym symbol(s) BCAP, RP11-34E5.3
    DNA
    TYPE functioning gene
    STRUCTURE 127.21 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 4817 90.4 805 - 2005 15893754
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneB cell Homo sapiens
    Lymphoid/Immunemacrophage Homo sapiens
    Lymphoid/Immunenatural killer Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a functional N-terminal TIR homology domain and links TLR signaling to activation of PI3K ,
  • YXXM motif crucial for regulating B-cell development in that mutation of these motifs abrogated their ability to induce BCR-mediated AKT activation as well as to promote B-cell development
  • C-terminal polyproline structure
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY adaptor , immunity/defense , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • potentially bridges BCR-associated kinases to the PI3K pathway by regulating PI3K localization
  • cytosolic adaptor that can recruit the PI3K p85 subunit when tyrosine-phosphorylated on three YXXM motifs by the tyrosine kinase SYk
  • essential in the maintenance of mature B cells through functional coupling with REL
  • in B lymphocytes, facilitates signaling from the antigen receptor
  • functions in B and NK cells to bind and activate PI3K, leading to AKT1 phosphorylation
  • PIK3AP1 and CD19 have complementary roles in BCR-mediated PI3K activation, thereby, at least in part, contributing to B-cell development
  • acts as a negative regulator of the host defense system against bacterial and viral infections via all TLR groups
  • essential activator of the PI3K pathway downstream of TLR signaling, providing a brake to limit potentially pathogenic excessive TLR responses
  • critical link between TLR ligation and PI3K activation in macrophages
  • is a unique TIR domain-containing TLR signaling adapter crucial for linking TLRs to PI3K activation and regulating the inflammatory response
  • unique TIR-domain containing adapter molecule that forms a critical link between TLRs and activation of PI3K
  • inhibits proliferation and differentiation of myeloid progenitors in the steady state and during demand situations
  • is a critical link between IL1R1 and the metabolic status of activated T cells that ultimately regulates the differentiation of inflammatory Th17 cells
  • role for PIK3AP1 in promoting TLR-induced IFNA production in plasmacytoid dendritic cells (pDC) and in systemic lupus erythematosus pathogenesis
  • is a multimodular, multifunctional signal transducer that regulates signal transduction pathways in leukocytes, including macrophages, B-cells, and T-cells
  • is a complex hub that processes signals from multiple pathways in diverse cell types of the immune system
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ABI1-interacting protein (SH3 domain of ABI1 and the C-terminal polyproline structure of PIK3AP1 are involved in interactions between the two)
  • adaptor function for NCK1 in recruiting PK3AP1 to sites of BCR signaling
  • plays an important role in osteoclast differentiation by regulating the MAPK14-dependent CREB signaling pathway
  • interactions of PIK3AP1 with Src homology 2 (SH2) and SH3 domain-containing adaptor proteins, notably growth factor receptor-bound protein 2 (GRB2) and CRKL
  • cell & other
    REGULATION
    Other tyrosine phosphorylation of PIK3AP1 mediated by SYK and BTK thereby providing binding site(s) for the p85 subunit of PI3K
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    missense mutation associated with cirrhosis in a family
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    immunologyinfectious 
    provides a potential new target for designing therapeutic approaches to treat inflammation or sepsis
    ANIMAL & CELL MODELS
  • Mice lacking Bcap have a predominantly immature pool of B cells with impaired immune function and increased susceptibility to apoptosis, but natural killer (NK) cells from Bcap-deficient mice are more mature, more long-lived, more resistant to apoptosis, and exhibit enhanced functional activity compared with NK cells from wild-type mice