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 • nuclear body 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	NP_035844.2 NP_035844
Location (UCSC)	Chr 7: 73.44 – 73.52 Mb	Chr 5: 135.19 – 135.25 Mb
PubMed search

1F62

9031

22385

ENSG00000009954

ENSMUSG00000002748

Q9UIG0

Q9Z277

NM_023005
NM_032408

NM_011714

NP_115784

NP_035844.2
NP_035844

Tyrosine-protein kinase BAZ1B is an enzyme that in humans is encoded by the 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.

Model organisms have been used in the study of BAZ1B function. A conditional knockout mouse line, called Baz1b^{tm2a(KOMP)Wtsi}, 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.

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Wikipedia