CREBBP
CREB-binding protein: a transcriptional coactivator and histone acetyltransferase implicated in Rubinstein-Taybi syndrome and cancer
Gene Information Card
| Symbol | CREBBP |
|---|---|
| Full Name | CREB-binding protein |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 1387 ncbi.nlm.nih.gov/gene/1387 |
| Ensembl ID | ENSG00000005339 |
| UniProt ID | Q92793 |
| OMIM ID | 600140 |
| HGNC ID | 2348 |
| Aliases | CBP, RSTS, KAT3A |
Description
CREBBP encodes the CREB-binding protein, a multifunctional transcriptional coactivator with intrinsic histone acetyltransferase (HAT) activity. It regulates gene expression by acetylating histones and transcription factors, and is essential for embryonic development, cell growth, and differentiation. Heterozygous germline mutations cause Rubinstein-Taybi syndrome, while somatic alterations are recurrent in hematologic malignancies and solid tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rubinstein-Taybi syndrome (RSTS) | Heterozygous loss-of-function mutations reduce HAT activity and disrupt transcriptional regulation | OMIM #180849; multiple case reports |
| Acute lymphoblastic leukemia (ALL) | Somatic deletions and point mutations impair tumor suppressor function | COSMIC; TCGA; PMID: 21572414 |
| Diffuse large B-cell lymphoma | Inactivating mutations and deletions contribute to lymphomagenesis | COSMIC; PMID: 21572415 |
| Lung adenocarcinoma | Recurrent missense mutations in HAT domain | COSMIC; TCGA |
| Colorectal cancer | Frameshift and nonsense mutations in microsatellite-unstable tumors | COSMIC; PMID: 24651015 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Liver | 7.2 | Low |
| Kidney | 10.1 | Medium |
| Testis | 15.3 | High |
| Lung | 8.4 | Medium |
| Spleen | 11.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 14.2 | Leukemia cell line; high expression |
| HeLa | 11.5 | Cervical carcinoma; moderate expression |
| A549 | 9.8 | Lung adenocarcinoma; moderate expression |
| HepG2 | 8.1 | Hepatocellular carcinoma; moderate expression |
| MCF7 | 10.6 | Breast cancer; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3889C>T (p.Arg1297*) | Nonsense | <0.1% in general population | Truncation; loss of HAT domain |
| c.4999C>T (p.Arg1667Trp) | Missense | <0.1% | Impaired acetyltransferase activity |
| c.4348C>T (p.Arg1450*) | Nonsense | <0.1% | Premature stop; associated with RSTS |
| c.3820_3821del (p.Glu1274fs) | Frameshift | <0.1% | Loss of function; found in colorectal cancer |
| c.4732G>A (p.Glu1578Lys) | Missense | <0.1% | Reduced HAT activity; reported in lymphoma |
Mutation functional classification
Loss of Function (LOF)
Most common; includes nonsense, frameshift, and missense mutations that reduce or abolish HAT activity or protein stability, leading to haploinsufficiency in Rubinstein-Taybi syndrome and tumor suppression loss in cancer.
Gain of Function (GOF)
Rare; some missense mutations in the HAT domain may alter substrate specificity, but not well established.
Dominant Negative (DN)
Possible for certain missense mutations that retain protein interaction but lack catalytic activity, interfering with wild-type CBP function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (KEGG: hsa04330)
• p53 signaling pathway (KEGG: hsa04115)
• Wnt signaling pathway (KEGG: hsa04310)
• Transcriptional misregulation in cancer (KEGG: hsa05202)
• Chromatin modifying enzymes (Reactome: R-HSA-3214847)
Protein Summary
The CREB-binding protein (CBP) is a large multidomain protein (2442 amino acids) that functions as a transcriptional coactivator and histone acetyltransferase. It contains a nuclear receptor interaction domain, a CREB-binding domain, a bromodomain, a HAT domain, and a glutamine-rich region. CBP acetylates histones H3 and H4, as well as non-histone proteins such as p53, to regulate gene expression. It is essential for development and is frequently mutated in Rubinstein-Taybi syndrome and various cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CREBBP Knockout HEK293 Cell Line | EDJ-KQ454 | Human | 1387 | Details Get a Quote |
| CREBBP Knockout A-549 Cell Line | EDJ-KQ18005 | Human | 1387 | Details Get a Quote |
| CREBBP Knockout HCT 116 Cell Line | EDJ-KQ18764 | Human | 1387 | Details Get a Quote |
| CREBBP Knockout HeLa Cell Line | EDJ-KQ18765 | Human | 1387 | Details Get a Quote |
| CREBBP (c.3250del )Point Mutation in HAP1 Cell Line | EDC03443 | Human | 1387 | Details Get a Quote |
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