BAZ1B (bromodomain adjacent to zinc finger domain 1B)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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9031 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Bromodomain adjacent to zinc finger domain 1B |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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BAZ1B |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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WBSCR10, WBSCR9, WSTF |
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Chromosome
Chromosome number
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7 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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7q11.23 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||||||||||||||||||||||
| UniProt ID | 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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