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FLASH GENE
Symbol JAK3 contributors: mct/npt - updated : 02-10-2009
HGNC name Janus kinase 3
HGNC id 6193
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a C terminal kinase domain, JH1 binding SH2 or SH3 motif
  • a pseudokinase domain tandemly linked to the N site of the former
  • five more JAK homology domain (JH), with a N terminus region (JH6, JH7) critical for receptor binding and signal transduction
    • HOMOLOGY
    interspecies ortholog to murine Jak3
    intraspecies paralog to JAK1
    paralog to JAK2
    Homologene
    FAMILY
  • protein kinase superfamily
  • Tyr protein kinase family
  • JAK subfamily
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • promoting tyrosine phosphorylation of signal transducers and activator of transcription (STAT) factors
  • nonreceptor tyrosine kinase essential for signaling via cytokine receptors that comprise the common gamma-chain (gammac), the receptors for IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
    • protein
  • associating primarily with IL receptors IL2, IL4,IL7, IL9, IL15, gamma chain (ILR2G)
  • JAK3, FES and PLD2 interactions in transformed cells maintain PLD2 at an enhanced level that leads to abnormal cell growth
    • cell & other
    REGULATION
    activated by cytokine receptor
    Other regulated by phosphorylation of tyrosine residues in the putative activation loop of the kinase domain
    recruited by the oncogenic latent membrane protein 1 (LMP1) of Epstein-Barr virus, to induce intracellular signaling pathways
    ASSOCIATED DISORDERS
    corresponding disease(s) SCIDJ
    related resource JAK3base:
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in acute megakaryocytic leukemia
    tumoral somatic mutation      
    in pediatric acute lymphoblastic leukemia (Mullighan 2009)
    tumoral somatic mutation     gain of function
    in adult T-cell leukemia/lymphoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target inhibition of JAK signaling is a logical target for therapeutic intervention in JAK mutated ALL (Mullighan 2009)
    ANIMAL & CELL MODELS