BAZ1B

BAZ1B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1F62
Identifiers
Aliases	BAZ1B, WBSCR10, WBSCR9, WSTF, bromodomain adjacent to zinc finger domain 1B
External IDs	MGI: 1353499 HomoloGene: 22651 GeneCards: BAZ1B
Gene ontology Molecular function • transferase activity • nucleotide binding • vitamin D receptor activator activity • histone kinase activity • zinc ion binding • histone binding • chromatin binding • non-membrane spanning protein tyrosine kinase activity • metal ion binding • kinase activity • protein binding • lysine-acetylated histone binding • protein tyrosine kinase activity • ATP binding Cellular component • pericentric heterochromatin • nuclear replication fork • nucleoplasm • condensed chromosome • nucleus Biological process • positive regulation of gene expression, epigenetic • chromatin remodeling • regulation of transcription, DNA-templated • phosphorylation • heart morphogenesis • chromatin assembly or disassembly • transcription, DNA-templated • cellular response to DNA damage stimulus • positive regulation of receptor activity • histone phosphorylation • chromatin-mediated maintenance of transcription • double-strand break repair • peptidyl-tyrosine phosphorylation Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	9031	22385
Ensembl	ENSG00000009954	ENSMUSG00000002748
UniProt	Q9UIG0	Q9Z277
RefSeq (mRNA)	NM_023005 NM_032408	NM_011714
RefSeq (protein)	NP_115784.1	NP_035844.2
Location (UCSC)	Chr 7: 73.44 – 73.52 Mb	Chr 5: 135.19 – 135.25 Mb
PubMed search	[1]	[2]
Wikidata

Tyrosine-protein kinase BAZ1B is an enzyme that in humans is encoded by the BAZ1B gene.^[3][4][5]

Function

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.^[5]

Animal models

Model organisms have been used in the study of BAZ1B function. A conditional knockout mouse line, called Baz1b^{tm2a(KOMP)Wtsi},^[6] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.^[7][8][9]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^{[9][10][11][12]}

Six significant phenotypes were reported:^[12]

• Fewer homozygous mutant mice survived to weaning than expected.
• Mutant mice had decreased body weights compared to wildtype control mice.
• Mutant mice showed increased activity, VO2 and energy expenditure, determined by indirect calorimetry.
• Radiography found teeth abnormalities.
• Dual-energy X-ray absorptiometry (DEXA) showed mutant female mice had a decrease in bone mineral density and content.
• Male heterozygous mice had higher bacterial counts after Salmonella infection.

Interactions

BAZ1B has been shown to interact with:

• CHAF1A,^[19]
• SMARCB1,^[19]
• SMARCC1,^[19]
• SMARCC2,^[19]
• SUPT16H^[19]
• TOP2B,^[19] and
• VDR.^[19]

References

Further reading

External links

• BAZ1B protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

PDB gallery
1f62: WSTF-PHD