InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BAZ1B

Summary

InnateDB Protein

IDBP-293167.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BAZ1B

Protein Name

bromodomain adjacent to zinc finger domain, 1B

Synonyms

WBSCR10; WBSCR9; WSTF;

Species

Homo sapiens

Ensembl Protein

ENSP00000385442

InnateDB Gene

IDBG-19888 (BAZ1B)

Protein Structure

UniProt Annotation

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. 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. {ECO:0000269PubMed:11980720, ECO:0000269PubMed:12837248, ECO:0000269PubMed:15543136, ECO:0000269PubMed:16603771, ECO:0000269PubMed:19092802, ECO:0000269PubMed:19234442}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00063, ECO:0000255PROSITE-ProRule:PRU00475, ECO:0000269PubMed:11980720, ECO:0000269PubMed:15543136}. Note=Accumulates in pericentromeric heterochromatin during replication. Targeted to replication foci throughout S phase via its association with PCNA.

Disease Associations

Note=BAZ1B is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BAZ1B may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Tissue Specificity

Ubiquitously expressed with high levels of expression in heart, brain, placenta, skeletal muscle and ovary.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 66 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Experimentally validated
Total	66 [view]
Protein-Protein	60 [view]
Protein-DNA	6 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003682	chromatin binding
GO:0004713	protein tyrosine kinase activity
GO:0004715	non-membrane spanning protein tyrosine kinase activity
GO:0005488	binding
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008270	zinc ion binding
GO:0035173	histone kinase activity
GO:0070577	lysine-acetylated histone binding

Biological Process

GO:0003007	heart morphogenesis
GO:0006302	double-strand break repair
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006974	cellular response to DNA damage stimulus
GO:0016572	histone phosphorylation
GO:0018108	peptidyl-tyrosine phosphorylation
GO:0048096	chromatin-mediated maintenance of transcription

Cellular Component

GO:0043596

nuclear replication fork

Protein Structure and Domains

PDB ID

InterPro

IPR001487 Bromodomain
IPR001841 Zinc finger, RING-type
IPR001965 Zinc finger, PHD-type
IPR011011 Zinc finger, FYVE/PHD-type
IPR013136 WSTF/Acf1/Cbp146
IPR016024 Armadillo-type fold
IPR018500 DDT domain, subgroup
IPR018501 DDT domain superfamily
IPR019787 Zinc finger, PHD-finger

PFAM

PF00439
PF13639
PF14634
PF10537
PF00628

PRINTS

PR00503

PIRSF

SMART

SM00297
SM00184
SM00249
SM00571

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt