Entrez Summary: 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].
UniProt Summary: 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. {ECO:0000269|PubMed:11980720, ECO:0000269|PubMed:15543136, ECO:0000269|PubMed:16603771, ECO:0000269|PubMed:19092802, ECO:0000269|PubMed:19234442}.
Pfam DomainsGO Terms
Pfam Domains
PHD
Bromodomain
WAC Acf1 DNA bd
GO Terms
histone kinase activity
nuclear replication fork
pericentric heterochromatin
condensed chromosome
histone phosphorylation
non-membrane spanning protein tyrosine kinase activity
positive regulation of gene expression, epigenetic
protein tyrosine kinase activity
histone binding
peptidyl-tyrosine phosphorylation
peptidyl-tyrosine modification
chromatin assembly or disassembly
chromatin remodeling
regulation of gene expression, epigenetic
nuclear body
histone modification
covalent chromatin modification
chromatin organization
cellular response to DNA damage stimulus
zinc ion binding
peptidyl-amino acid modification
protein phosphorylation
chromosome organization
phosphorylation
ATP binding
cellular response to stress
positive regulation of gene expression
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)