AlphaFold predicted structure
CREBBP · Q92793
Mean pLDDT
52.5/ 100
Low
2,442 residues
Confidence breakdown
- Very high(≥ 90)18%
- Confident(70–90)14%
- Low(50–70)6%
- Very low(< 50)61%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
CREBBP
Chr 16p13.3CREB binding lysine acetyltransferase
- Aliases:
- RTS, CBP, KAT3A
- MANE:
- ENST00000262367.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownGlaucoma (developmental)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIUGR and IGF abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPrimary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSevere microcephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
Rubinstein-Taybi syndrome due to CREBBP mutations
0.84Menke-Hennekam syndrome 1
0.77Rubinstein-Taybi syndrome
0.76diffuse large B-cell lymphoma
0.65cancer
0.60hereditary disease
0.55urinary bladder cancer
0.54Intellectual disability
0.52Menke-Hennekam syndrome
0.46acute lymphoblastic leukemia
0.45
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
CREB-binding protein
Acetylates histones, giving a specific tag for transcriptional activation (PubMed:21131905, PubMed:24616510). Mediates acetylation of histone H3 at 'Lys-18' and 'Lys-27' (H3K18ac and H3K27ac, respectively) (PubMed:21131905). Also acetylates non-histone proteins, like DDX21, FBL, IRF2, MAFG, NCOA3, POLR1E/PAF53 and FOXO1 (PubMed:10490106, PubMed:11154691, PubMed:12738767, PubMed:12929931, PubMed:24207024, PubMed:28790157, PubMed:30540930, PubMed:35675826, PubMed:9707565). Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-BMAL1 and CLOCK-BMAL1 heterodimers (PubMed:14645221). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Acetylates POLR1E/PAF53, leading to decreased association of RNA polymerase I with the rDNA promoter region and coding region (PubMed:24207024). Acetylates DDX21, thereby inhibiting DDX21 helicase activity (PubMed:28790157). Acetylates FBL, preventing methylation of 'Gln-105' of histone H2A (H2AQ104me) (PubMed:30540930). In addition to protein acetyltransferase, can use different acyl-CoA substrates, such as lactoyl-CoA, and is able to mediate protein lactylation (PubMed:38128537). Catalyzes lactylation of MRE11 in response to DNA damage, thereby promoting DNA double-strand breaks (DSBs) via homologous recombination (HR) (PubMed:38128537). Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway (PubMed:25514493)
Diseases associated with CREBBP
Curated MONDO disease pages that list CREBBP among their top associated genes.