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Description for Protein BTK

Bruton agammaglobulinemia tyrosine kinase
62 total interacting proteins; 37 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 7/2)
(membrane: 2; microparticles: 1; platelet: 7; secretome: 1; undefined: 2)
Summary:
The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • BTK: Bruton's tyrosine kinase Cys-rich motif
  • SH3: Src homology 3 domains
  • SH2: Src homology 2 domains
  • PH: Pleckstrin homology domain.
  • Tyr_Kinase: tyrosine kinase domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.7.10.2
    KEGG - Orthology:
    K07370
    KEGG - Pathway(s):
    hsa04662; hsa04664; hsa05340
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Bruton agammaglobulinemia tyrosine kinase; Agammaglobulinemia tyrosine kinase; Tyrosine-protein kinase BTK; ATK; B-cell progenitor kinase; BPK
    Approved Symbol:
    BTK
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 22
    Human (de-) phosphorylation sites: 22; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 12
    Human phosphorylation targets: 11; Predicted platelet targets: 1
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Inositol 1,3,4,5-Tetrakisphosphate(db);
  • Inositol-(1,3,4,5)-Tetrakisphosphate(db)

    Associated Genetic Diseases:

  • Agammaglobulinemia and isolated growth hormone deficiency, X-linked(Pd);
  • Agammaglobulinemia, X-linked(Pd);
  • Agammaglobulinemia, X-linked, mild(Pd);
  • Hypoagammaglobulinemia, X-linked(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02248 Entrez Gene ID: 695 OMIM ID: 300300 Swissprot Accession: Q06187; Q5JY90;