BAZ1B (bromodomain adjacent to zinc finger domain 1B)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 9031 |
| Gene name | Bromodomain adjacent to zinc finger domain 1B |
| Gene symbol | BAZ1B |
| Synonyms (NCBI Gene) |
WBSCR10WBSCR9WSTF
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| Chromosome | 7 |
| Chromosome location | 7q11.23 |
| Summary | 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 d |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9UIG0 | ||||||||||||||||||||||||||||||
| Protein name | Tyrosine-protein kinase BAZ1B (EC 2.7.10.2) (Bromodomain adjacent to zinc finger domain protein 1B) (Williams syndrome transcription factor) (Williams-Beuren syndrome chromosomal region 10 protein) (Williams-Beuren syndrome chromosomal region 9 protein) ( | ||||||||||||||||||||||||||||||
| Protein function | Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a transcription regulator (PubMed:19092802). Involved in DNA damage response by phosphorylating 'Tyr-142' of histone H2AX (H2AXY142ph) (PubMed:1909280 | ||||||||||||||||||||||||||||||
| PDB | 1F62 , 5NNF | ||||||||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitously expressed with high levels of expression in heart, brain, placenta, skeletal muscle and ovary. | ||||||||||||||||||||||||||||||
| Sequence |
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| Sequence length | 1483 | ||||||||||||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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