Résumé du gène: This BLK gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. B Lymphoid Tyrosine Kinase protein has a role in B-cell receptor signaling and B-cell development. BLK protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]General information above from NCBI
Activité catalytique: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
Régulation enzymatique: Antibody-mediated surface engagement of the B- cell antigen receptor (BCR) which results in the phosphorylation of BLK on tyrosine residues, stimulates the enzymatic activity (By similarity).
Structure de sous-unités: Interacts with CBL (via SH2 domain). Interacts with CD79A and CD79B (via SH2 domain) (By similarity).
Localisation subcellulaire: Cell membrane; Lipid-anchor (By similarity). Note=Present and active in lipid rafts. Membrane location is required for the phosphorylation of CD79A and CD79B (By similarity).
Spécificité tissulaire: Expressed in lymphatic organs, pancreatic islets, Leydig cells, striate ducts of salivary glands and hair follicles.
Induction: Expression is under the control of NF-kappa-B as well as the B-cell specific transcription factors PAX5 and EBF1.
Post-traductionnel: Phosphorylated on tyrosine residues after antibody-mediated surface engagement of the B-cell antigen receptor (BCR) (By similarity).
Ubiquitination of activated BLK by the UBE3A ubiquitin protein ligase leads to its degradation by the ubiquitin- proteasome pathway (By similarity).
Implication dans la maladie: Maturity-onset diabetes of the young 11 (MODY11) [MIM:613375]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarité de séquence: Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily.
Contains 1 protein kinase domain.
Contains 1 SH2 domain.
Contains 1 SH3 domain.C
General information above from UniProt