BTK Blocking Peptide

The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

Btk: a tyrosine kinase of the Tec family. Plays a crucial role in B-cell ontogeny. Defects cause X-linked agammaglobulinemia, an immunodeficiency characterized by failure to produce mature B lymphocyte cells and associated with a failure of Ig heavy chain rearrangement. Truncated splice forms found in childhood leukemias may underlie radiation resistance of tumors through inhibition of apoptosis.

Protein type: EC 2.7.10.2; Protein kinase, tyrosine (non-receptor); Protein kinase, TK; Kinase, protein; TK group; Tec family

Chromosomal Location of Human Ortholog: Xq21.33-q22

Cellular Component: extrinsic to internal side of plasma membrane; mast cell granule; intracellular membrane-bound organelle; perinuclear region of cytoplasm; cytoplasm; plasma membrane; cytoplasmic vesicle; cytosol; nucleus; lipid raft

Molecular Function: identical protein binding; protein binding; phosphatidylinositol-3,4,5-triphosphate binding; metal ion binding; protein-tyrosine kinase activity; non-membrane spanning protein tyrosine kinase activity; ATP binding; receptor binding

Biological Process: I-kappaB kinase/NF-kappaB cascade; adaptive immune response; transcription, DNA-dependent; B cell activation; cell maturation; calcium-mediated signaling; protein amino acid phosphorylation; T cell receptor signaling pathway; regulation of cell proliferation; toll-like receptor 2 signaling pathway; activation of NF-kappaB transcription factor; MyD88-dependent toll-like receptor signaling pathway; regulation of B cell cytokine production; regulation of B cell apoptosis; B cell receptor signaling pathway; histamine secretion by mast cell; toll-like receptor signaling pathway; positive regulation of B cell differentiation; innate immune response; mesoderm development; cell differentiation; toll-like receptor 4 signaling pathway; transmembrane receptor protein tyrosine kinase signaling pathway

Disease: Agammaglobulinemia, X-linked; Isolated Growth Hormone Deficiency, Type Iii