NP_000052.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
79,937 Da
NCBI Official Full Name
tyrosine-protein kinase BTK isoform 1
NCBI Official Synonym Full Names
Bruton tyrosine kinase
NCBI Official Synonym Symbols
AT; ATK; BPK; XLA; IMD1; AGMX1; PSCTK1 [Similar Products]
NCBI Protein Information
tyrosine-protein kinase BTK
UniProt Protein Name
Tyrosine-protein kinase BTK
UniProt Synonym Protein Names
Agammaglobulinemia tyrosine kinase; ATK; B-cell progenitor kinase; BPK; Bruton tyrosine kinase
UniProt Synonym Gene Names
NCBI Summary for BTK
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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
UniProt Comments for BTK
Btk: a tyrosine kinase of the Tec family. Plays a crucial role in B-cell ontogeny. Defects cause X-linked agammaglobulinemia, an immunodeficiency characterized by failure to produce mature B lymphocyte cells and associated with a failure of Ig heavy chain rearrangement. Truncated splice forms found in childhood leukemias may underlie radiation resistance of tumors through inhibition of apoptosis.
Protein type: EC 2.7.10.2; Kinase, protein; Protein kinase, TK; Protein kinase, tyrosine (non-receptor); TK group; Tec family
Chromosomal Location of Human Ortholog: Xq22.1
Cellular Component: cytoplasm; cytosol; extrinsic to internal side of plasma membrane; intracellular membrane-bound organelle; lipid raft; nucleus; plasma membrane
Molecular Function: ATP binding; identical protein binding; non-membrane spanning protein tyrosine kinase activity; phosphatidylinositol-3,4,5-triphosphate binding; protein binding; protein-tyrosine kinase activity; receptor binding
Biological Process: activation of NF-kappaB transcription factor; adaptive immune response; B cell activation; B cell receptor signaling pathway; calcium-mediated signaling; innate immune response; mesoderm development; MyD88-dependent toll-like receptor signaling pathway; peptidyl-tyrosine phosphorylation; positive regulation of B cell differentiation; protein amino acid phosphorylation; regulation of B cell apoptosis; regulation of B cell cytokine production; regulation of cell proliferation; transmembrane receptor protein tyrosine kinase signaling pathway
Disease: Agammaglobulinemia, X-linked; Isolated Growth Hormone Deficiency, Type Iii
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Products associated with BTK recombinant protein
Pathways associated with BTK recombinant protein
Diseases associated with BTK recombinant protein
Organs/Tissues associated with BTK recombinant protein
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