Version: 8.0.0Date: Tue Jan 28 2025
Gene
CREBBP
- Species
- Homo sapiens
- Symbol
- CREBBP
- Name
- CREB binding protein
- Synonyms
- CBP
- CREB-binding protein
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including DNA-binding transcription factor binding activity; N-acyltransferase activity; and transcription coregulator activity. Involved in several processes, including N-terminal peptidyl-lysine acetylation; positive regulation of transforming growth factor beta receptor signaling pathway; and regulation of nucleobase-containing compound metabolic process. Located in chromatin and nuclear body. Is active in cytoplasm. Implicated in Rubinstein-Taybi syndrome; acute lymphoblastic leukemia; and acute myeloid leukemia. Biomarker of Huntington's disease and pre-eclampsia.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR13808
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr16:3725054...3880713 - (155.66 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.