BAZ1B
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 disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| bromodomain adjacent to zinc finger domain 1B | MIM:605681 | Ensembl:ENSG00000009954 | HGNC:HGNC:961 | PA25271 | 7q11.23 |
GO terms in BAZ1B
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0006333 | chromatin assembly or disassembly |
| BP | TAS | GO:0006338 | chromatin remodeling |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | NAS | GO:0006357 | regulation of transcription by RNA polymerase II |
| BP | IDA | GO:0006974 | cellular response to DNA damage stimulus |
| BP | IDA | GO:0016572 | histone phosphorylation |
| BP | IEA | GO:0018108 | peptidyl-tyrosine phosphorylation |
| BP | TAS | GO:0045815 | positive regulation of gene expression, epigenetic |
| CC | IEA | GO:0000793 | condensed chromosome |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005721 | pericentric heterochromatin |
| CC | IDA | GO:0016604 | nuclear body |
| CC | IDA | GO:0043596 | nuclear replication fork |
| MF | IDA | GO:0004713 | protein tyrosine kinase activity |
| MF | IEA | GO:0004715 | non-membrane spanning protein tyrosine kinase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | NAS | GO:0008270 | zinc ion binding |
| MF | IDA | GO:0035173 | histone kinase activity |
| MF | IEA | GO:0042393 | histone binding |
Gene expression in normal tissue: BAZ1B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BAZ1B
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-212165 | Epigenetic regulation of gene expression |
| reactome | R-HSA-5250913 | Positive epigenetic regulation of rRNA expression |
| reactome | R-HSA-5250924 | B-WICH complex positively regulates rRNA expression |
| reactome | R-HSA-5693532 | DNA Double-Strand Break Repair |
| reactome | R-HSA-5693565 | Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks |
| reactome | R-HSA-5693606 | DNA Double Strand Break Response |
| reactome | R-HSA-73894 | DNA Repair |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BAZ1B
CLASSFICATION
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