BAZ1B Antibody – Mouse Monoclonal

This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]

WSTF: plays a central role in chromatin remodeling and acts as a transcription regulator. Apparently possesses tyrosine-protein kinase activity, but bears no sequence resemblance classical tyrosine kinase proteins. Involved in DNA damage response by phosphorylating Y142 of histone H2AX. H2AXpY142 plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Essential component of the WICH complex, a chromatin remodeling complex that mobilizes nucleosomes and reconfigures irregular chromatin to a regular nucleosomal array structure. The WICH complex regulates the transcription of various genes, has a role in RNA polymerase I and RNA polymerase III transcription, mediates the histone H2AX phosphorylation at Y142, and is involved in the maintenance of chromatin structures during DNA replication processes. In the complex, it mediates the recruitment of the WICH complex to replication foci during DNA replication. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene. In the WINAC complex, plays an essential role by targeting the complex to acetylated histones, an essential step for VDR-promoter association. Accumulates in pericentromeric heterochromatin during replication. Targeted to replication foci throughout S phase via its association with PCNA. Ubiquitously expressed with high levels of expression in heart, brain, placenta, skeletal muscle and ovary. Two alternatively-spliced human isoforms have been reported.

Protein type: Protein kinase, Ser/Thr (non-receptor); DNA replication; Kinase, protein; EC 2.7.10.2; Nuclear receptor co-regulator; ATYPICAL group; BAZ family

Chromosomal Location of Human Ortholog: 7q11.23

Cellular Component: centric heterochromatin; nuclear replication fork; condensed chromosome

Molecular Function: protein binding; zinc ion binding; protein-tyrosine kinase activity; non-membrane spanning protein tyrosine kinase activity; histone kinase activity; chromatin binding; ATP binding

Biological Process: chromatin assembly or disassembly; heart morphogenesis; peptidyl-tyrosine phosphorylation; regulation of transcription, DNA-dependent; transcription, DNA-dependent; chromatin-mediated maintenance of transcription; histone phosphorylation; double-strand break repair; response to DNA damage stimulus