CREBBP
Summary: This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:600140 Ensembl IDEnsembl:ENSG00000005339 HGNC IDHGNC:HGNC:2348 PHARMGKB IDPA26866 Map Location16p13.3 | |||||
GO terms in CREBBP
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | TAS | GO:0001666 | response to hypoxia |
| BP | TAS | GO:0002223 | stimulatory C-type lectin receptor signaling pathway |
| BP | IDA | GO:0006355 | regulation of transcription, DNA-templated |
| BP | TAS | GO:0006355 | regulation of transcription, DNA-templated |
| BP | TAS | GO:0006367 | transcription initiation from RNA polymerase II promoter |
Gene expression in normal tissue: CREBBP
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CREBBP
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP138 | Androgen receptor signaling pathway |
| wikipathways | WP1539 | Angiogenesis |
| wikipathways | WP231 | TNF alpha Signaling Pathway |
| wikipathways | WP268 | Notch Signaling Pathway |
| wikipathways | WP3414 | Initiation of transcription and translation elongation at the HIV-1 LTR |
| wikipathways | WP364 | IL-6 signaling pathway |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CREBBP
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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