Phospho-JAK3 (JAK3) Antibody – Rabbit

The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]

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; Protein kinase, tyrosine (non-receptor); Kinase, protein; 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; Ras guanyl-nucleotide exchange factor activity; receptor binding

Biological Process: adaptive immune response; B cell differentiation; cell migration; elevation of cytosolic calcium ion concentration; enzyme linked receptor protein signaling pathway; innate immune response; 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; peptidyl-tyrosine phosphorylation; positive regulation of activated T cell proliferation; positive regulation of calcium ion transport; positive regulation of GTPase activity; positive regulation of immune response; positive regulation of T cell proliferation; protein amino acid phosphorylation; STAT protein nuclear translocation; T cell homeostasis; tyrosine phosphorylation of STAT protein; tyrosine phosphorylation of Stat5 protein

Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-negative, B Cell-positive, Nk Cell-negative