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FLASH GENE
Symbol JAK3 contributors: mct/npt - updated : 02-10-2009
HGNC name Janus kinase 3
HGNC id 6193
Corresponding disease
SCIDJ severe combined immunodeficiency, T-cell negative, B cell positive, NK cell negative
Location 19p13.11      Physical location : 17.935.594 - 17.958.841
Synonym name
  • Janus kinase 3 (a protein tyrosine kinase, leukocyte)
  • tyrosine-protein kinase JAK3
  • Synonym symbol(s) JAKL, LJAK, JAK-3, L-JAK
    EC.number 2.7.10.2, 2.7.10.1
    DNA
    TYPE functioning gene
    STRUCTURE 23.25 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   transcription factor
    text structure putative Sp-1, AP-1, Ets, Stat, and other binding sites, important regulators of Jak3 expression.
    MAPPING cloned Y linked N status confirmed
    Map see MYO9B
    Physical map
    NR2F6 19p13.1 nuclear receptor subfamily 2, group F, member 6 MCC2 19p13 nuclear receptor subfamily 2, group F, member 6 HSPC142 19p13.12 HSPC142 protein FLJ39369 19p13.12 hypothetical protein FLJ39369 ABHD8 19p13.12 abhydrolase domain containing 8 MRPL34 19p13.1 mitochondrial ribosomal protein L33 MGC2594 19p13.12 hypothetical protein MGC2594 KIAA1623 19p13.12 KIAA1623 GTPBP3 19p13.12 GTP binding protein 3 (mitochondrial) PLVAP 19p13.2 plasmalemma vesicle associated protein BST2 19p13.2 bone marrow stromal cell antigen 2 LOC93343 19p13.12 hypothetical protein BC011840 LOC115861 19p13.12 hypothetical protein BC014127 SLC27A1 19p13.1 solute carrier family 27 (fatty acid transporter), member 1 PGLS 19p13.2 6-phosphogluconolactonase BCNP1 19p13.12 B-cell novel protein 1 FLJ22329 19p13.12 hypothetical protein FLJ22329 UNC13A 19p13.12 unc-13 homolog A (C. elegans) VCY2IP1 19p13.12 VCY2 interacting protein 1 KIAA0290 B3GNT3 19p13.1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 INSL3 19p13.1-p12 insulin-like 3 (Leydig cell) JAK3 19p13.1 Janus kinase 3 (a protein tyrosine kinase, leukocyte) RPL18A 19p13 ribosomal protein L18a SLC5A5 19p13.2-p12 solute carrier family 5 (sodium iodide symporter), member 5 LOC115098 19p13.12 hypothetical protein BC013949 KCNN1 19p13.1 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 CLONE24945 LOC284438 19p13.12 similar to Citrate synthase, mitochondrial precursor LOC126358 19p13.12 similar to apolipoprotein A-I binding protein; apoA-I binding protein LOC390897 19 similar to ribosomal protein S18 IL12RB1 19p13.1 interleukin 12 receptor, beta 1 KIAA0561 PIK3R2 19q13.2-q13.4 phosphoinositide-3-kinase, regulatory subunit, polypeptide 2 (p85 beta) IFI30 19p13.1 interferon, gamma-inducible protein 30 MGC12972 19p13.11 hypothetical protein MGC12972 RAB3A 19p13.1 RAB3A, member RAS oncogene family PDE4C 19P13.1 phosphodiesterase 4C, cAMP-specific (phosphodiesterase E1 dunce homolog, Drosophila)
    regionally located tightly linked to INSL3 locus
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 5449 125 1124 - Mullighan (2009)
    - - 3620 - 1094 breast -
    also called JAK3b
    - - - - - activated monocytes -
    also called JAK3m
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
    Lymphoid/Immunelymph node    
     spleen    
    Reproductivefemale systembreast   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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