CREBBP

Description

The CREBBP (CREB binding protein) is a protein-coding gene located on chromosome 16.

The CREBBP gene provides instructions for making CREB binding protein, which regulates the activity of many genes in tissues throughout the body. This protein plays an essential role in controlling cell growth and division and prompting cells to mature and assume specialized functions (differentiate). CREB binding protein appears to be critical for normal development before and after birth. Studies show that this protein is involved in development of the brain and may also be involved in the formation of long-term memories.CREB binding protein carries out its functions by turning on (activating) transcription, which is the first step in the production of proteins from the instructions stored in DNA. The CREB binding protein ensures the DNA is ready for transcription by attaching a small molecule called an acetyl group to proteins called histones (a process called acetylation). Histones are structural proteins that bind DNA and give chromosomes their shape. Acetylation of the histone changes the shape of the chromosome, making genes available for transcription. On the basis of this function, CREB binding protein is called a histone acetyltransferase.In addition, CREB binding protein connects other proteins that start the transcription process (known as transcription factors) with the group of proteins that carries out transcription. On the basis of this function, CREB binding protein is called a transcriptional coactivator.

CREBBP, also known as CBP, is a histone acetyltransferase that plays a key role in regulating gene expression. It adds acetyl groups to histones, which are proteins that package DNA, making the DNA more accessible for transcription. This process, known as acetylation, acts as a tag for transcriptional activation. CREBBP acetylates histone H3 at specific lysine residues (Lys-18 and Lys-27), contributing to the regulation of gene expression. Beyond histones, CREBBP also acetylates a variety of non-histone proteins, including DDX21, FBL, IRF2, MAFG, NCOA3, POLR1E/PAF53, and FOXO1, each influencing specific cellular processes. CREBBP further acts as a coactivator, enhancing the activity of transcription factors like CREB, ALX1, and circadian regulators NPAS2-BMAL1 and CLOCK-BMAL1. Its role extends to the acetylation of PCNA, which is involved in DNA repair, and POLR1E/PAF53, impacting RNA polymerase I activity. Additionally, CREBBP acetylates DDX21, influencing its helicase activity, and FBL, impacting histone H2A methylation. CREBBP also functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway.

CREBBP is also known as CBP, KAT3A, MKHK1, RSTS, RSTS1.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing