BAZ1B

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]

Full Name

bromodomain adjacent to zinc finger domain, 1B

Function

Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a transcription regulator. Involved in DNA damage response by phosphorylating 'Tyr-142' of histone H2AX (H2AXY142ph). H2AXY142ph 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 'Tyr-142', 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.

Biological Process

Cellular response to DNA damage stimulus Source: UniProtKB
Chromatin assembly or disassembly Source: Ensembl
Chromatin remodeling Source: BHF-UCL
Double-strand break repair Source: Reactome
Histone phosphorylation Source: UniProtKB
Positive regulation of gene expression, epigenetic Source: Reactome
Regulation of transcription by RNA polymerase II Source: BHF-UCL

Cellular Location

Nucleus. Accumulates in pericentromeric heterochromatin during replication. Targeted to replication foci throughout S phase via its association with PCNA.