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 Chromosomal Deletion Syndrome. Among its related pathways are Gene Expression and DNA Double-Strand Break Repair. 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 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.