BAZ1B
Bromodomain Adjacent to Zinc Finger Domain 1B
Gene Information Card
| Symbol | BAZ1B |
|---|---|
| Full Name | Bromodomain adjacent to zinc finger domain 1B |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 9031 ncbi.nlm.nih.gov/gene/9031 |
| Ensembl ID | ENSG00000105835 |
| UniProt ID | Q9UIG0 |
| OMIM ID | 605681 |
| HGNC ID | 961 |
| Aliases | WBSCR9, WBSCR10, WSTF |
Description
BAZ1B (bromodomain adjacent to zinc finger domain 1B) encodes a protein that is a subunit of the ATP-dependent chromatin remodeling complex WICH (WSTF-ISWI chromatin remodeling complex). It plays a role in chromatin structure regulation, DNA replication, and transcription. The gene is located in the Williams-Beuren syndrome critical region on chromosome 7q11.23, and its deletion is associated with the multisystem developmental disorder Williams-Beuren syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Williams-Beuren syndrome | Haploinsufficiency of BAZ1B due to heterozygous deletion of the 7q11.23 region contributes to the characteristic craniofacial features and cognitive profile. | OMIM #194050; PMID: 10655546 |
| Intellectual disability | BAZ1B deletion or mutation may impair chromatin remodeling required for neuronal gene expression. | ClinVar; PMID: 20301699 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Moderate expression |
| HeLa | 11.5 | Moderate expression |
| K562 | 8.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; associated with Williams-Beuren syndrome phenotype |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and haploinsufficiency, contributing to Williams-Beuren syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • chromatin remodeling | • DNA replication |
| • transcription regulation | • bromodomain |
| • zinc finger domain |
Pathways
• WICH complex-mediated chromatin remodeling
• Williams-Beuren syndrome gene network
Protein Summary
BAZ1B (WSTF) is a 1,483-amino acid protein containing a bromodomain and a PHD finger domain. It forms the WICH complex with SNF2H (SMARCA5) to facilitate chromatin remodeling during replication and transcription. The protein is involved in maintaining open chromatin at replication forks and regulating gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BAZ1B Knockout HEK293 Cell Line | EDJ-KQ6435 | Human | 9031 | Details Get a Quote |
| BAZ1B Knockout HeLa Cell Line | EDJ-KQ29172 | Human | 9031 | Details Get a Quote |
| BAZ1B Knockout A-549 Cell Line | EDJ-KQ30501 | Human | 9031 | Details Get a Quote |
| BAZ1B Knockout HCT 116 Cell Line | EDJ-KQ30502 | Human | 9031 | Details Get a Quote |
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