JAK3: a non-receptor tyrosine-kinase of the Jak family expressed predominantly in immune cells. Mediates signal transduction via the common gamma-chain of cytokine receptors, including IL-2, -4, -7, -9, and -15. Interacts with members of the STAT (signal transduction and activators of transcription) family. Interacts with STAM2 and SHB. Contains two protein kinase domains. Mutations that abrogate JAK3 function cause an autosomal SCID (severe combined immunodeficiency disease). Inhibitor: R017s for organ transplants. Three differentially spliced isoforms have been described.
Protein type: Protein kinase, TK; Kinase, protein; Protein kinase, tyrosine (non-receptor); EC 2.7.10.2; TK group; JakA family
Chromosomal Location of Human Ortholog: 19p13.1
Cellular Component: cytoskeleton; cytosol; endomembrane system; extrinsic to internal side of plasma membrane
Molecular Function: ATP binding; non-membrane spanning protein tyrosine kinase activity; protein binding; protein phosphatase binding; protein-tyrosine kinase activity; receptor binding
Biological Process: activation of MAPKK activity; adaptive immune response; axon guidance; B cell differentiation; cell migration; elevation of cytosolic calcium ion concentration; enzyme linked receptor protein signaling pathway; epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; innate immune response; insulin receptor signaling pathway; MAPKKK cascade; negative regulation of dendritic cell cytokine production; negative regulation of FasL biosynthetic process; negative regulation of interleukin-10 production; negative regulation of interleukin-12 production; negative regulation of T cell activation; negative regulation of T-helper 1 cell differentiation; nerve growth factor receptor signaling pathway; peptidyl-tyrosine phosphorylation; positive regulation of activated T cell proliferation; positive regulation of calcium ion transport; positive regulation of immune response; positive regulation of T cell proliferation; protein amino acid phosphorylation; Ras protein signal transduction; small GTPase mediated signal transduction; STAT protein nuclear translocation; T cell homeostasis; tyrosine phosphorylation of STAT protein; tyrosine phosphorylation of Stat5 protein; vascular endothelial growth factor receptor signaling pathway
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-negative, B Cell-positive, Nk Cell-negative
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