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, tyrosine (non-receptor); Protein kinase, TK; Kinase, protein; EC 2.7.10.2; TK group; JakA family
Chromosomal Location of Human Ortholog: 19p13.1
Cellular Component: extrinsic to internal side of plasma membrane; cytoskeleton; endomembrane system; cytosol
Molecular Function: protein binding; protein-tyrosine kinase activity; non-membrane spanning protein tyrosine kinase activity; protein phosphatase binding; ATP binding; hormone receptor binding
Biological Process: negative regulation of interleukin-12 production; cell migration; peptidyl-tyrosine phosphorylation; negative regulation of T-helper 1 cell differentiation; negative regulation of interleukin-10 production; negative regulation of FasL biosynthetic process; protein amino acid phosphorylation; enzyme linked receptor protein signaling pathway; regulation of apoptosis; negative regulation of dendritic cell cytokine production; tyrosine phosphorylation of STAT protein; B cell differentiation; innate immune response; erythrocyte differentiation; positive regulation of T cell proliferation; T cell homeostasis; positive regulation of transcription from RNA polymerase II promoter; inflammatory response; negative regulation of T cell activation; transmembrane receptor protein tyrosine kinase signaling pathway; STAT protein nuclear translocation
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-negative, B Cell-positive, Nk Cell-negative
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