CREBBP Gene

The CREBBP gene (CREBBP stands for "CREB Binding Protein") is a protein-coding gene located on chromosome 16p13.3. The CREBBP gene is ubiquitously expressed and is involved in the transcriptional co-activation of many different transcription factors. It was first isolated as a nuclear protein that binds to the cAMP response element binding protein (CREB). It is now known that this gene plays a critical role in embryonic development, growth control, and homeostasis by linking chromatin remodeling to transcription factor recognition. Alternative splicing results in multiple transcript variants encoding different isoforms.

The protein encoded by the CREBBP 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 proteins and non-histone proteins. This protein has very high sequence similarity to the p300 protein in its bromodomain, cysteine histidine-rich regions, and histone acetyltransferase domain.

Chromosomal translocations involving this gene have been associated with acute myeloid leukemia.

Diseases associated with CREBBP include:

• Rubinstein-Taybi syndrome 1

and

• Menke-Hennekam syndrome 1.

1. Curtis AM et al (2004) Histone acetyltransferase-dependent chromatin remodeling and the vascular clock. J Biol Chem 279:7091-7097.
2. Das C et al (2014) Binding of the histone chaperone ASF1 to the CBP bromodomain promotes histone acetylation. Proc Natl Acad Sci U S A 111:E1072-1081.