Aliases for BAZ1B Gene
External Ids for BAZ1B Gene
Previous HGNC Symbols for BAZ1B Gene
Previous GeneCards Identifiers for BAZ1B Gene
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]
GeneCards Summary for BAZ1B Gene
BAZ1B (Bromodomain Adjacent To Zinc Finger Domain 1B) is a Protein Coding gene. Diseases associated with BAZ1B include Williams-Beuren Syndrome and Supravalvular Aortic Stenosis. Among its related pathways are DNA Double Strand Break Response and Gene Expression. Gene Ontology (GO) annotations related to this gene include protein tyrosine kinase activity and binding. An important paralog of this gene is BPTF.
UniProtKB/Swiss-Prot Summary for BAZ1B Gene
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.