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    JAK3 Janus kinase 3 [ Homo sapiens ]

    Gene ID: 3718, updated on 19-May-2012
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    Summary

    Official Symbol
    JAK3provided by HGNC
    Official Full Name
    Janus kinase 3provided by HGNC
    Primary source
    HGNC:6193
    See related
    Ensembl:ENSG00000105639; HPRD:02547; MIM:600173; Vega:OTTHUMG00000165648
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JAKL; LJAK; JAK-3; L-JAK; JAK3_HUMAN
    Summary
    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]
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    Genomic context

    Location :
    19p13.1
    Sequence :
    Chromosome: 19; NC_000019.9 (17935591..17958841, complement)
    See JAK3 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 Neighboring gene insulin-like 3 (Leydig cell) Neighboring gene ribosomal protein L18a Neighboring gene small nucleolar RNA, H/ACA box 68 Neighboring gene solute carrier family 5 (sodium iodide symporter), member 5

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo. Recher M, et al. Blood, 2011 Dec 22. PMID 22039266.
    2. Targeting JAK3 in kidney transplantation: current status and future options. Wojciechowski D, et al. Curr Opin Organ Transplant, 2011 Dec. PMID 21971513.
    3. A mechanism underlying NOTCH-induced and ubiquitin-mediated JAK3 degradation. Wu W, et al. J Biol Chem, 2011 Dec 2. PMID 21969365.
    4. NIRF constitutes a nodal point in the cell cycle network and is a candidate tumor suppressor. Mori T, et al. Cell Cycle, 2011 Oct 1. PMID 21952639.
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.

    See all (154) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Data imply that IL-21-mediated signaling is critical for long-lived humoral immunity and to restore antibody responses in IL2RG/JAK3-deficient patients after hematopoietic cell transplantation.
      Title: IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.
    2. Review: discuss role of JAK3 inhibitors as immunosuppressive agents in kidney transplantation.
      Title: Targeting JAK3 in kidney transplantation: current status and future options.
    3. dominant-negative mutants of either Cullin1 or Cullin5, which lack the C terminus responsible for recruiting the E2 enzymes, were able to prevent JAK3 degradation induced by both ASB2/SKP2 and NOTCH signaling.
      Title: A mechanism underlying NOTCH-induced and ubiquitin-mediated JAK3 degradation.
    4. This study defines a novel JAK3 mutation among patients with N-DS AML and demonstrates that normal individuals can also display germline JAK3 substitutions, previously proven to have oncogenic properties, in vitro and in vivo.
      Title: Description of a novel Janus kinase 3 P132A mutation in acute megakaryoblastic leukemia and demonstration of previously reported Janus kinase 3 mutations in normal subjects.
    5. Somatic, missense mutations occurred in the N-terminal FERM (founding members: band 4.1, ezrin, radixin, and moesin) domain and induced gain of function in JAK3 in adult T-cell leukemia/lymphoma.
      Title: FERM domain mutations induce gain of function in JAK3 in adult T-cell leukemia/lymphoma.
    6. JAK3 mutations may be associated with a more aggressive form of myeloid leukemia-Down Syndrome.
      Title: Frequency and prognostic implications of JAK 1-3 aberrations in Down syndrome acute lymphoblastic and myeloid leukemia.
    7. Janus kinase 3 is expressed in erythrocytes, phosphorylated upon energy depletion and involved in the regulation of suicidal erythrocyte death.
      Title: Janus kinase 3 is expressed in erythrocytes, phosphorylated upon energy depletion and involved in the regulation of suicidal erythrocyte death.
    8. malignant T cells in cutaneous T-cell lymphoma (CTCL) lesions express IL-17 and that this expression is promoted by the Jak3/Stat3 pathway.
      Title: Malignant cutaneous T-cell lymphoma cells express IL-17 utilizing the Jak3/Stat3 signaling pathway.
    9. A high level of cell invasiveness of cancer cells can be explained for the first time by combined high JAK3/PLD2 phosphorylation and activity involving PLD2's Y415 residue, which might constitute a novel target to inhibit cancer cell invasion.
      Title: Cell invasion of highly metastatic MTLn3 cancer cells is dependent on phospholipase D2 (PLD2) and Janus kinase 3 (JAK3).
    10. Lyn coimmunoprecipitates with the interleukin-2 beta receptor and JAK3 proteins in human T-cell leukemia virus type 1-infected T-cells.
      Title: Association of SRC-related kinase Lyn with the interleukin-2 receptor and its role in maintaining constitutive phosphorylation of JAK/STAT in human T-cell leukemia virus type 1-transformed T cells.
    Submit: New GeneRIF Correction See all (75)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    SCID, autosomal recessive, T-negative/B-positive type

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The inhibition of IL-2R expression and proliferation induced by the interaction of CD4 with HIV-1 envelope glycoprotein gp120 is correlated with the inhibition of expression and activation of Janus kinase JAK3 PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    AAC50226.1 NP_000206.2 JAK3    BIND  PubMed JAK3B interacts with JAK3S. 
    NP_000206.2 NP_000206.2 JAK3    BIND  PubMed JAK3S autophosphorylates JAK3S. 
    P52333 Q9UM73 ALK    HPRD  PubMed  
    P52333 P20963 CD247    HPRD  PubMed  
    P52333 P25942 CD40    HPRD  PubMed  
    P52333 P61073 CXCR4    HPRD  PubMed  
    P52333 P07332 FES    HPRD  PubMed  
    P52333 P14784 IL2RB    HPRD  PubMed  
    P52333 P31785 IL2RG    HPRD  PubMed  
    P52333 P24394 IL4R    HPRD  PubMed  
    P52333 P16871 IL7R    HPRD  PubMed  
    P52333 O00145 INPP5D    HPRD  PubMed  
    P52333 P35568 IRS1    HPRD  PubMed  
    P52333 Q9Y4H2 IRS2    HPRD  PubMed  
    P52333 P23458 JAK1    HPRD  PubMed  
    P52333 O60674 JAK2    HPRD  PubMed  
    P52333 P52333 JAK3    HPRD  PubMed  
    P52333 Q07666 KHDRBS1    HPRD  PubMed  
    P52333 P06239 LCK    HPRD  PubMed  
    P52333 P27986 PIK3R1    HPRD  PubMed  
    P52333 O14744 PRMT5    HPRD  PubMed  
    P52333 Q14289 PTK2B    HPRD  PubMed  
    P52333 P17706 PTPN2    HPRD  PubMed  
    P52333 P29350 PTPN6    HPRD  PubMed  
    P52333 P08575 PTPRC    HPRD  PubMed  
    P52333 O14492 SH2B2    HPRD  PubMed  
    P52333 Q15464 SHB    HPRD  PubMed  
    P52333 O15524 SOCS1    HPRD  PubMed  
    P52333 O14543 SOCS3    HPRD  PubMed  
    P52333 Q92783 STAM    HPRD  PubMed  
    P52333 O75886 STAM2    HPRD  PubMed  
    P52333 P40763 STAT3    HPRD  PubMed  
    P52333 P42229 STAT5A    HPRD  PubMed  
    P52333 O95411 TIAF1    HPRD  PubMed  
    P52333 P09327 VIL1    HPRD  PubMed  
    BioGRID:109921 BioGRID:106739 ALK    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:109921 BioGRID:107357 CD247    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:109921 BioGRID:107354 CD3E    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109921 BioGRID:113607 CXCR4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109921 BioGRID:114089 IKBKG    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109921 BioGRID:109776 IL2RG    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109921 BioGRID:109874 IRS1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109921 BioGRID:110144 LEPR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109921 BioGRID:115688 PRMT5    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109921 BioGRID:108480 PTK2B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109921 BioGRID:112358 SHB    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109921 BioGRID:113722 STAM    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109921 BioGRID:115548 STAM2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109921 BioGRID:112653 STAT5A    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:109921 BioGRID:112654 STAT5B    BioGRID  PubMed Two-hybrid 
    BioGRID:109921 BioGRID:114653 TIAF1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:109921 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109921 BioGRID:125434 UHRF2    BioGRID  PubMed Far Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • CD40/CD40L signaling, organism-specific biosystem (from Pathway Interaction Database)
      CD40/CD40L signaling, organism-specific biosystem
      CD40/CD40L signaling
    • Chemokine signaling pathway, organism-specific biosystem (from KEGG)
      Chemokine signaling pathway, organism-specific biosystemInflammatory immune response requires the recruitment of leukocytes to the site of inflammation upon foreign insult. Chemokines are small chemoattractant peptides that provide directional cues for th...
    • Chemokine signaling pathway, conserved biosystem (from KEGG)
      Chemokine signaling pathway, conserved biosystemInflammatory immune response requires the recruitment of leukocytes to the site of inflammation upon foreign insult. Chemokines are small chemoattractant peptides that provide directional cues for th...
    • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
      Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Epstein-Barr virus infection, organism-specific biosystem (from KEGG)
      Epstein-Barr virus infection, organism-specific biosystemEpstein-Barr virus (EBV) is a ubiquitous human herpesvirus that is associated with oncogenesis. EBV infection to primary human B lymphocytes leads to induction of EBV-specific HLA-restricted cytotoxi...
    • Epstein-Barr virus infection, conserved biosystem (from KEGG)
      Epstein-Barr virus infection, conserved biosystemEpstein-Barr virus (EBV) is a ubiquitous human herpesvirus that is associated with oncogenesis. EBV infection to primary human B lymphocytes leads to induction of EBV-specific HLA-restricted cytotoxi...
    • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • IL-2 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-2 Signaling Pathway, organism-specific biosystemInterleukin-2 belongs to a family of cytokines, which includes IL-4, IL-7, IL-9, IL-15 and IL-21. IL-2 signals through a receptor complex consisting of IL-2 specific IL-2 receptor alpha (CD25), IL-2 ...
    • IL-4 signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-4 signaling Pathway, organism-specific biosystemInterleukin-4 belongs to the IL-2 family of cytokines, which includes IL-2, IL-7, IL-9, IL-15 and IL-21. It signals through 2 different receptor complexes; Receptor complex 1 comprises of IL-4 recept...
    • IL-7 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-7 Signaling Pathway, organism-specific biosystemInterleukin-7 belongs to a family of cytokines, which includes IL-2, IL-4, IL-9, IL-15 and IL-21. It signals through a receptor complex consisting of IL-7 receptor alpha chain (IL7RA) and a common ga...
    • IL-9 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-9 Signaling Pathway, organism-specific biosystemInterleukin-9 belongs to a family of cytokines, which includes IL-2, IL-4, IL-7, IL-15 and IL-21. It signals through a receptor complex consisting of an IL-9 receptor (IL9R) and a common gamma chain ...
    • IL2 signaling events mediated by PI3K, organism-specific biosystem (from Pathway Interaction Database)
      IL2 signaling events mediated by PI3K, organism-specific biosystem
      IL2 signaling events mediated by PI3K
    • IL2 signaling events mediated by STAT5, organism-specific biosystem (from Pathway Interaction Database)
      IL2 signaling events mediated by STAT5, organism-specific biosystem
      IL2 signaling events mediated by STAT5
    • IL2-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL2-mediated signaling events, organism-specific biosystem
      IL2-mediated signaling events
    • IL4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL4-mediated signaling events, organism-specific biosystem
      IL4-mediated signaling events
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Interleukin receptor SHC signaling, organism-specific biosystem (from REACTOME)
      Interleukin receptor SHC signaling, organism-specific biosystemPhosphorylation of Shc at three tyrosine residues, 239, 240 (Gotoh et al. 1996) and 317 (Salcini et al. 1994) involves unidentified tyrosine kinases presumed to be part of the activated receptor comp...
    • Interleukin-2 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-2 signaling, organism-specific biosystemInterleukin-2 (IL-2) is a cytokine that is produced by T cells in response to antigen stimulation. Originally, IL-2 was discovered because of its potent growth factor activity on activated T cells in...
    • Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystem (from REACTOME)
      Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystemThe Interleukin-3 (IL-3), IL-5 and Granulocyte-macrophage colony stimulating factor (GM-CSF) receptors form a family of heterodimeric receptors that have specific alpha chains but share a common beta...
    • Interleukin-7 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-7 signaling, organism-specific biosystemInterleukin-7 (IL7) is produced primarily by T zone fibroblastic reticular cells found in lymphoid organs, and also expressed by non-hematopoietic stromal cells present in other tissues including the...
    • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
      Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
      Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Measles, organism-specific biosystem (from KEGG)
      Measles, organism-specific biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
    • Measles, conserved biosystem (from KEGG)
      Measles, conserved biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
    • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
      Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
    • Primary immunodeficiency, organism-specific biosystem (from KEGG)
      Primary immunodeficiency, organism-specific biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
    • Primary immunodeficiency, conserved biosystem (from KEGG)
      Primary immunodeficiency, conserved biosystemPrimary immunodeficiencies (PIs) are a heterogeneous group of disorders, which affect cellular and humoral immunity or non-specific host defense mechanisms mediated by complement proteins, and cells ...
    • Relaxin receptors, organism-specific biosystem (from REACTOME)
      Relaxin receptors, organism-specific biosystemRelaxins are part of a family of peptide hormones that diverged from insulin in early vertebrate evolution to form the insulin-like peptides and relaxins, now often referred to as the relaxin peptide...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Signaling events mediated by TCPTP, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by TCPTP, organism-specific biosystem
      Signaling events mediated by TCPTP
    • T Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      T Cell Receptor Signaling Pathway, organism-specific biosystem
      T Cell Receptor Signaling Pathway

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    non-membrane spanning protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein tyrosine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    JAK-STAT cascade involved in growth hormone signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    STAT protein import into nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    T cell homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    T cell homeostasis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    cytokine-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    elevation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
    		  
    enzyme linked receptor protein signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    intracellular protein kinase cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    intracellular protein kinase cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    negative regulation of FasL biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    negative regulation of T cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    negative regulation of T-helper 1 cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    negative regulation of dendritic cell cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    negative regulation of interleukin-10 production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    negative regulation of interleukin-12 production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    negative regulation of thymocyte apoptosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    peptidyl-tyrosine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    positive regulation of activated T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of anti-apoptosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    positive regulation of calcium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein autophosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein phosphorylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    regulation of T cell apoptosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    response to interleukin-15 TAS
    Traceable Author Statement
    more info
    		 PubMed 
    response to interleukin-2 TAS
    Traceable Author Statement
    more info
    		 PubMed 
    response to interleukin-4 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    response to interleukin-9 TAS
    Traceable Author Statement
    more info
    		 PubMed 
    tyrosine phosphorylation of STAT protein TAS
    Traceable Author Statement
    more info
    		 PubMed 
    tyrosine phosphorylation of Stat5 protein IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    endomembrane system IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    tyrosine-protein kinase JAK3
    Names
    tyrosine-protein kinase JAK3
    leukocyte Janus kinase
    Janus kinase 3 (a protein tyrosine kinase, leukocyte)
    NP_000206.2
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007273.1 RefSeqGene

      Range
      4960..28210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_77

    mRNA and Protein(s)

    1. NM_000215.3 → NP_000206.2  tyrosine-protein kinase JAK3

      Status: REVIEWED

      Source sequence(s)
      AC007201, BF512748, DA405504, U09607, U31601
      Consensus CDS
      CCDS12366.1
      UniProtKB/Swiss-Prot
      P52333
      Related
      ENSP00000391676, ENST00000458235
      Conserved Domains (5) summary
      cd05078
      Location:525 – 778
      Blast Score: 1245
      PTK_Jak2_Jak3_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinases, Janus kinases 2 and 3
      cd05081
      Location:817 – 1099
      Blast Score: 1426
      PTKc_Jak2_Jak3_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinases, Janus kinases 2 and 3
      smart00295
      Location:39 – 200
      Blast Score: 234
      B41; Band 4.1 homologues
      cd10380
      Location:362 – 458
      Blast Score: 457
      SH2_Jak3; Src homology 2 (SH2) domain in the Janus kinase 3 (Jak3) proteins
      pfam07714
      Location:822 – 1095
      Blast Score: 858
      Pkinase_Tyr; Protein tyrosine kinase

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      17935591..17958841, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      17500992..17524212, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC007201.1 AAD22741.1
    genomic AF513860.1 AAM44860.1
    genomic CH471106.1 EAW84637.1
      EAW84638.1
      EAW84639.1
      EAW84640.1
    genomic U70065.1 AAC50950.1
    mRNA AK296383.1 BAG59055.1
    mRNA AK304392.1 BAG65227.1
    mRNA BC028068.1 AAH28068.1
    mRNA BF512748.1 None
    mRNA BM561964.1 None
    mRNA DA405504.1 None
    mRNA U08340.1 AAA17743.1
    mRNA U09607.1 AAA19626.1
    mRNA U31317.1 AAC50225.1
    mRNA U31601.1 AAC50226.1
    mRNA U57096.1 AAC50542.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P52333.2 GenPept UniProtKB/Swiss-Prot:P52333
    Q6LD09 GenPept UniProtKB/TrEMBL:Q6LD09
    Q8N1E8 GenPept UniProtKB/TrEMBL:Q8N1E8
    Q9UMU1 GenPept UniProtKB/TrEMBL:Q9UMU1
    Help top of page

    Additional Links

    Additional Links

    • Epigenomics
    • MIM 600173
    • JAK3base: Mutation registry for autosomal recessive severe combined JAK3 deficiency JAK3base/
    • Catalogue of Somatic Mutations in Cancer (COSMIC) JAK3
    • GeneTests for MIM: 600173
    • Resource of Asian Primary Immunodeficiency Diseases (RAPID) AGID_86
    • UCSC UCSC
    • UniGene Hs.515247

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