PIK3CD: Phosphoinositide-3-kinase (PI3K) that phosphorylates PftdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Mediates immune responses. Plays a role in B-cell development, proliferation, migration, and function. Required for B-cell receptor (BCR) signaling. Mediates B-cell proliferation response to anti-IgM, anti-CD40 and IL4 stimulation. Promotes cytokine production in response to TLR4 and TLR9. Required for antibody class switch mediated by TLR9. Involved in the antigen presentation function of B-cells. Involved in B-cell chemotaxis in response to CXCL13 and sphingosine 1-phosphate (S1P). Required for proliferation, signaling and cytokine production of naive, effector and memory T-cells. Required for T-cell receptor (TCR) signaling. Mediates TCR signaling events at the immune synapse. Activation by TCR leads to antigen-dependent memory T-cell migration and retention to antigenic tissues. Together with PIK3CG participates in T-cell development. Contributes to T-helper cell expansion and differentiation. Required for T-cell migration mediated by homing receptors SELL/CD62L, CCR7 and S1PR1 and antigen dependent recruitment of T-cells. Together with PIK3CG is involved in natural killer (NK) cell development and migration towards the sites of inflammation. Participates in NK cell receptor activation. Have a role in NK cell maturation and cytokine production. Together with PIK3CG is involved in neutrophil chemotaxis and extravasation. Together with PIK3CG participates in neutrophil respiratory burst. Have important roles in mast-cell development and mast cell mediated allergic response. Involved in stem cell factor (SCF)-mediated proliferation, adhesion and migration. Required for allergen-IgE-induced degranulation and cytokine release. The lipid kinase activity is required for its biological function. Isoform 2 may be involved in stabilizing total RAS levels, resulting in increased ERK phosphorylation and increased PI3K activity. Belongs to the PI3/PI4-kinase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Carbohydrate Metabolism - inositol phosphate; EC 2.7.1.153; Kinase, lipid; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 1p36.22
Cellular Component: cytoplasm; cytosol; mast cell granule; phosphoinositide 3-kinase complex; plasma membrane
Molecular Function: 1-phosphatidylinositol-3-kinase activity; ATP binding; kinase activity; phosphatidylinositol-4,5-bisphosphate 3-kinase activity; phosphatidylinositol-4-phosphate 3-kinase activity; phosphoinositide 3-kinase activity; protein binding
Biological Process: adaptive immune response; axon guidance; B cell activation; B cell receptor signaling pathway; cytokine production; inflammatory response; innate immune response; mast cell chemotaxis; mast cell degranulation; natural killer cell activation; natural killer cell differentiation; neutrophil chemotaxis; neutrophil extravasation; phosphatidylinositol biosynthetic process; phosphatidylinositol phosphorylation; phosphoinositide 3-kinase cascade; phosphorylation; platelet activation; positive regulation of cell migration; positive regulation of gene expression; positive regulation of neutrophil apoptosis; positive regulation of protein kinase B signaling; protein amino acid phosphorylation; respiratory burst involved in defense response; signal transduction; T cell activation; T cell chemotaxis; T cell differentiation; T cell receptor signaling pathway
Disease: Immunodeficiency 14
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