CREBBP CREB binding protein
Gene ID: 1387, updated on 18-Nov-2024Gene type: protein coding
Also known as: CBP; RSTS; KAT3A; MKHK1; RSTS1
- See all available tests in GTR for this gene
- Go to complete Gene record for CREBBP
- Go to Variation Viewer for CREBBP variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval. GeneReviews: Not available | |
| Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. GeneReviews: Not available | |
| Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. GeneReviews: Not available | |
| Menke-Hennekam syndrome 1 | See labs |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Rubinstein-Taybi syndrome due to CREBBP mutations | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2019-10-23) ClinGen Genome Curation PagePubMedTriplosensitivity |
Genomic context
- Location:
- 16p13.3
- Sequence:
- Chromosome: 16; NC_000016.10 (3725054..3880713, complement)
- Total number of exons:
- 33
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CREBBP variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CREB Binding Protein (CREBBP) @ LOVD
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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