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FLASH GENE
Symbol PIK3AP1 contributors: mct - updated : 25-02-2011
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
    Physical map
    LOC389999 10 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 PYCS 10q24.3 pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase) DKFZP564D116 10q24.1 DKFZP564D116 protein ENTPD1 10q24 ectonucleoside triphosphate diphosphohydrolase 1 LOC387706 10 LOC387706 LOC387707 10 similar to RIKEN cDNA 5730509K17 gene FLJ10895 10pter-q26.12 hypothetical protein FLJ10895 KIAA0335 10cen-q26.11 hypothetical protein FLJ10895 LOC387708 10 similar to nucleophosmin 1; nucleolar phosphoprotein B23; numatrin; nucleophosmin/nucleoplasmin family, member 1 BLNK 10q23.2 B-cell linker DNTT 10q24 deoxynucleotidyltransferase, terminal TMEM10 10q23-q24 transmembrane protein 10 TLL2 10q23-q24 tolloid-like 2 SMBP 10q24.2 SM-11044 binding protein PIK3AP1 10q24.2 phosphoinositide-3-kinase adaptor protein 1 LOC283340 10q24.2 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein LOC387709 10 LOC387709 C10orf12 10q24.2 chromosome 10 open reading frame 12 SLIT1 10q23.3-q24 slit homolog 1 (Drosophila) ARHGAP19 10q24.2 Rho GTPase activating protein 19 FRAT1 10q24.1 frequently rearranged in advanced T-cell lymphomas FRAT2 10q23-q24.1 frequently rearranged in advanced T-cell lymphomas 2 KIAA0690 10q23.33 frequently rearranged in advanced T-cell lymphomas 2 PGAM1 10q25.3 phosphoglycerate mutase 1 (brain) CSL4 10q24 exosomal core protein CSL4 ZDHHC16 10q24.1 zinc finger, DHHC domain containing 16 MMS19L 10q24-q25 MMS19-like (MET18 homolog, S. cerevisiae) FLJ11807 10q24.2 hypothetical protein FLJ11807 ANKRD2 10q23.31-q23.32 ankyrin repeat domain 2 (stretch responsive muscle) LOC112817 10q24.2 hypothetical protein BC011916 LOC118812 10q24.2 44050 protein
    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
  • 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)
  • 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)
    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