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Description for Protein JAK3

Janus kinase 3
37 total interacting proteins; 23 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(membrane: 2)
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] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.7.10.2
KEGG - Orthology:
K11218
KEGG - Pathway(s):
hsa04062; hsa04630; hsa05340
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
LJAK; JAKL; Tyrosine protein kinase JAK3; Leukocyte janus kinase
Approved Symbol:
JAK3
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 6
Human (de-) phosphorylation sites: 6; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 6
Human phosphorylation targets: 6; Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • 2-(1,1-DIMETHYLETHYL)9-FLUORO-3,6-DIHYDRO-7H-BENZ[H]-IMIDAZ[4,5-F]ISOQUINOLIN-7-ONE(db);
  • 3-{(3R,4R)-4-methyl-3-[methyl(7H-pyrrolo[2,3-d]pyrimidin-4-yl)amino]piperidin-1-yl}-3-oxopropanenitrile(db)

    Associated Genetic Diseases:

  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02547 Entrez Gene ID: 3718 OMIM ID: 600173 Swissprot Accession: P52333;