The gene information section lists the gene name (HUGO Gene Nomenclature Committee (HGNC) name if available), any approved gene synonyms, Ensembl gene description, and the Entrez gene summary from the National Center for Biotechnology Information.
The chromosomal and cytoband location of the gene according to Ensembl is reported together with the Ensembl gene identifier and Ensembl database version. The Entrez gene identifier for the gene is also given. If any of the protein products of the gene is linked to a UniProt KB/SWISS-PROT entry, links to the UniProt and the neXtProt databases for these proteins are displayed.
Gene name
CREBBP (HGNC Symbol)
Synonyms
CBP, KAT3A, RSTS, RTS
Description
CREB binding protein (HGNC Symbol)
Entrez gene 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]
The protein view displays protein features. The tabs at the top of the protein view section can be used to switch between the different splice variants encoded by this gene. The mouse over function displays additional data for the features in the protein view.
At the top of the protein view, the maximum percent sequence identity of the protein to all other proteins from other human genes is shown, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50) (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0 and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Common (purple) and unique (grey) regions between alternative processed transcripts from the same gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
The protein information section displays the alternative protein-coding transcripts (splice variants) encoded by this gene, according to the Ensembl database.
The ENSP identifier links to the Ensembl website for that protein, and the ENST identifier links to the Ensembl website for that transcript. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes to which this protein has been assigned are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column.
The length of the protein (amino acid residues) (according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0 and Phobius and predicted transmembrane region(s) (according to MDM) are also reported.
Transferases COSMIC Translocations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Enzymes ENZYME proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes COSMIC somatic mutations in cancer genes Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Transferases COSMIC Translocations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Enzymes ENZYME proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes COSMIC somatic mutations in cancer genes Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Frameshift Mutations COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Other Mutations COSMIC Somatic Mutations COSMIC Translocations Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Frameshift Mutations COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Other Mutations COSMIC Somatic Mutations COSMIC Translocations Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Frameshift Mutations COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Other Mutations COSMIC Somatic Mutations COSMIC Translocations Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Frameshift Mutations COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Other Mutations COSMIC Somatic Mutations COSMIC Translocations Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)