BAZ1B Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | BAZ1B |
| Official Name | bromodomain adjacent to zinc finger domain 1B [Source:HGNC Symbol;Acc:HGNC:961] |
| Ensembl ID | ENSG00000009954 |
| Bio databases IDs | |
| Aliases | bromodomain adjacent to zinc finger domain 1B, Williams-Beuren syndrome chromosome region 9, Williams-Beuren syndrome chromosome region 10, transcription factor WSTF |
| Synonyms | bromodomain adjacent to zinc finger domain 1B, bromodomain adjacent to zinc finger domain, 1B, WBSCR10, WBSCR9, WSTF |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BAZ1B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PHD zinc finger
- histone binding
- transcription regulator
- protein kinase
- DDT domain
- enzyme
- protein binding
- WSTF, HB1, Itc1p, MBD9 motif 1
- protein-tyrosine kinase
- Bromodomain
- ATP-utilizing chromatin assembly and remodelling N-terminal
- Williams-Beuren syndrome DDT (WSD), D-TOX E motif
- PHD finger superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- hypertriglyceridemia
- migraines
- metabolic syndrome X
- hyperuricemia
- endometrium tumor
- postmenopausal osteoporosis
role in cell
- growth
- DNA damage response
- remodeling
- damage in
- compaction
- homologous recombination repair in
- remodeling in
- missegregation in
- cohesion in
- missegregation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- chromosome
- nucleoplasm
- DNA replication foci
- centromeres
- pericentric heterochromatin
- replication fork
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BAZ1B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chromatin remodeling
- positive regulation of transcription from RNA polymerase II promoter
- response to DNA damage stimulus
- positive regulation of transcription from RNA polymerase III promoter
- post-translational protein modification
- positive regulation of transcription from RNA polymerase I promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- condensed chromosome
- nucleus
- nuclear replication fork
- nucleolus
- centromeric heterochromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- zinc ion binding
- protein binding
- non-membrane spanning protein tyrosine kinase activity
- histone kinase activity
- histone binding