Synthesized peptide derived from human BTK (Phospho Ser179)

This antibody detects endogenous levels of BTK (Phospho Ser179) Rabbit pAb at Human, Mouse

BTK AGMX1 ATK BPK

Tyrosine-protein kinase BTK (Agammaglobulinaemia tyrosine kinase) (ATK) (B-cell progenitor kinase) (BPK) (Bruton tyrosine kinase)

Tyrosine-protein kinase BTK ;
Agammaglobulinaemia tyrosine kinase ;
ATK ;
B-cell progenitor kinase ;
BPK ;
Bruton tyrosine kinase ;

Bruton tyrosine kinase (BTK) Homo sapiens 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] ,

Catalytic activity:ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. ,cofactor:Binds 1 zinc ion per subunit. ,Disease:Defects in BTK are the cause of X-linked agammaglobulinemia (XLA) [MIM:300755]; also called X-linked agammaglobulinemia type 1 (AGMX1) or immunodeficiency type 1 (IMD1) . XLA is a humoral immunodeficiency disease which results in developmental defects in the maturation pathway of B-cells. Affected boys have normal levels of pre-B-cells in their bone marrow but virtually no circulating mature B-lymphocytes. This results in a lack of immunoglobulins of all classes and leads to recurrent bacterial infections like otitis , conjunctivitis , dermatitis , sinusitis in the first few years of life , or even some patients present overwhelming sepsis or meningitis , resulting in death in a few hours. Treatment in most cases is by infusion of intravenous immunoglobulin. ,Disease:Defects in BTK may be the cause of X-linked hypogammaglobulinemia and isolated growth hormone deficiency (XLA-IGHD) [MIM:307200]; also known as agammaglobulinemia and isolated growth hormone deficiency or Fleisher syndrome or isolated growth hormone deficiency type 3 (IGHD3) . In rare cases XLA is inherited together with isolated growth hormone deficiency (IGHD) . ,enzyme regulation:Inhibited by IBTK. Activated by phosphorylation. ,Function:Plays a crucial role in B-cell ontogeny. Transiently phosphorylates GTF2I on tyrosine residues in response to B-cell receptor cross-linking. Required for the formation of functional ARID3A DNA-binding complexes. ,online information:BTK mutation db ,PTM:Autophosphorylated on Tyr-223 and Tyr-551. Phosphorylation of Tyr-223 may create a docking site for a SH2 containing protein. ,similarity:Belongs to the protein kinase superfamily. Tyr protein kinase family. ,similarity:Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily. ,similarity:Contains 1 Btk-type zinc finger. ,similarity:Contains 1 PH domain. ,similarity:Contains 1 protein kinase domain. ,similarity:Contains 1 SH2 domain. ,similarity:Contains 1 SH3 domain. ,subunit:Binds GTF2I through the PH domain. Interacts with SH3BP5 via the SH3 domain. Interacts with IBTK via its PH domain. Interacts with GTF2I and ARID3A. ,

Cytoplasm. Cell membrane; Peripheral membrane protein. Nucleus. In steady state , BTK is predominantly cytosolic. Following B-cell receptor (BCR) engagement by antigen , translocates to the plasma membrane through its PH domain. Plasma membrane localization is a critical step in the activation of BTK. A fraction of BTK also shuttles between the nucleus and the cytoplasm , and nuclear export is mediated by the nuclear export receptor CRM1.

>>NF-kappa B signaling pathway ;
>>Osteoclast differentiation ;
>>Platelet activation ;
>>B cell receptor signaling pathway ;
>>Fc epsilon RI signaling pathway ;
>>Epstein-Barr virus infection ;
>>Primary immunodeficiency