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    JAK3 Janus kinase 3 [ Homo sapiens (human) ]

    Gene ID: 3718, updated on 11-Apr-2024

    Summary

    Official Symbol
    JAK3provided by HGNC
    Official Full Name
    Janus kinase 3provided by HGNC
    Primary source
    HGNC:HGNC:6193
    See related
    Ensembl:ENSG00000105639 MIM:600173; AllianceGenome:HGNC:6193
    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]
    Expression
    Biased expression in appendix (RPKM 19.5), lymph node (RPKM 18.2) and 12 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
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    Genomic context

    Location:
    19p13.11
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17824782..17847982, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17958895..17982060, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17935591..17958791, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17905145-17905842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17905843-17906540 Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 Neighboring gene insulin like 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17941863-17942447 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17942448-17943031 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:17952872-17953108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17970267-17971002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17972474-17973210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17973211-17973945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14287 Neighboring gene ribosomal protein L18a Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:17979569-17980222 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:17980223-17980876 Neighboring gene small nucleolar RNA, H/ACA box 68 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:17984524-17985296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:17988651-17989150 Neighboring gene solute carrier family 5 member 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14288

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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
    Tat tat HIV-1 Tat-mediated upregulation of CCL5 involves JAK2/3, AKT2/3, p38delta, NF-kappaB (p65/p50), C/EBP alpha/gamma, and AP-1 proteins PubMed
    tat HIV-1 Tat upregulates the expression of Janus kinase 3 (JAK3) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables growth hormone receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables non-membrane spanning protein tyrosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein tyrosine kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein tyrosine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein tyrosine kinase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in T cell homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in T cell homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell surface receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in enzyme-linked receptor protein signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in growth hormone receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in growth hormone receptor signaling pathway via JAK-STAT TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in interleukin-15-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in interleukin-2-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in interleukin-2-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    involved_in interleukin-4-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in interleukin-9-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of FasL production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of T cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of T-helper 1 cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of dendritic cell cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of interleukin-10 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of interleukin-12 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of thymocyte apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peptidyl-tyrosine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of T cell apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of receptor signaling pathway via JAK-STAT TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to interleukin-15 TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to interleukin-2 TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to interleukin-4 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to interleukin-9 TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in tyrosine phosphorylation of STAT protein TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endosome TAS
    Traceable Author Statement
    more info
     
    is_active_in extrinsic component of cytoplasmic side of plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    is_active_in extrinsic component of cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in extrinsic component of plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    tyrosine-protein kinase JAK3
    Names
    Janus kinase 3 (a protein tyrosine kinase, leukocyte)
    leukocyte Janus kinase
    NP_000206.2
    XP_011526293.2
    XP_047294742.1
    XP_054176885.1
    XP_054176886.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000215.4NP_000206.2  tyrosine-protein kinase JAK3

      See identical proteins and their annotated locations for NP_000206.2

      Status: REVIEWED

      Source sequence(s)
      AC007201, BF512748, DA405504, U09607, U31601
      Consensus CDS
      CCDS12366.1
      UniProtKB/Swiss-Prot
      P52333, Q13259, Q13260, Q13611, Q8N1E8, Q99699, Q9Y6S2
      Related
      ENSP00000391676.1, ENST00000458235.7
      Conserved Domains (6) summary
      cd10380
      Location:362458
      SH2_Jak3; Src homology 2 (SH2) domain in the Janus kinase 3 (Jak3) proteins
      smart00295
      Location:39200
      B41; Band 4.1 homologues
      cd05081
      Location:8171099
      PTKc_Jak3_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 3
      cd14208
      Location:521778
      PTK_Jak3_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 3
      pfam07714
      Location:8221095
      Pkinase_Tyr; Protein tyrosine kinase
      cl17171
      Location:250362
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      17824782..17847982 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438786.1XP_047294742.1  tyrosine-protein kinase JAK3 isoform X1

      UniProtKB/Swiss-Prot
      P52333, Q13259, Q13260, Q13611, Q8N1E8, Q99699, Q9Y6S2
      Related
      ENSP00000432511.1, ENST00000527670.5
    2. XM_011527991.3XP_011526293.2  tyrosine-protein kinase JAK3 isoform X2

    RNA

    1. XR_007066796.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      17958895..17982060 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320910.1XP_054176885.1  tyrosine-protein kinase JAK3 isoform X1

      UniProtKB/Swiss-Prot
      P52333, Q13259, Q13260, Q13611, Q8N1E8, Q99699, Q9Y6S2
    2. XM_054320911.1XP_054176886.1  tyrosine-protein kinase JAK3 isoform X2

    RNA

    1. XR_008485140.1 RNA Sequence