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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]
CREBBP (CREB Binding Protein) is a Protein Coding gene. Diseases associated with CREBBP include Rubinstein-Taybi Syndrome 1 and Menke-Hennekam Syndrome 1. Among its related pathways are Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors and Notch-mediated HES/HEY network. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is EP300.
Bromodomains (BRDs) are epigenetic reader domains that selectively recognize acetylated lysine residues on the tails of histone proteins, and are the only known protein modules that can target acetylated lysine residues.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001085 | RNA polymerase II transcription factor binding | IBA,IPI | 21539536 |
GO:0001102 | RNA polymerase II activating transcription factor binding | TAS | 11001584 |
GO:0002039 | p53 binding | IPI | 9194565 |
GO:0003682 | chromatin binding | IDA | 24939902 |
GO:0003684 | damaged DNA binding | IDA | 24939902 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000123 | histone acetyltransferase complex | IBA | 21873635 |
GO:0000785 | chromatin | IDA | 21539536 |
GO:0005634 | nucleus | IEA,IDA | 12929931 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005667 | transcription factor complex | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by NOTCH1 | ||
2 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
Activation of PKA through GPCR
.71
PKA Signaling
.56
|
3 | BMAL1-CLOCK,NPAS2 activates circadian gene expression |
.68
|
|
4 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
5 | CREB Pathway |
CREB Pathway
.68
IP3 Pathway
.68
|
Intracellular Calcium Signaling
.50
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 21539536 |
GO:0001666 | response to hypoxia | TAS | 15261140 |
GO:0002223 | stimulatory C-type lectin receptor signaling pathway | TAS | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA,TAS | 15261140 |
GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
acetyl-coa |
|
72-89-9 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CREBBP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CREBBP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CREBBP 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CREBBP 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Crebbp 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Crebbp 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CREBBP 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CREBBP 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CREBBP 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | crebbp 30 |
|
||
Str.16673 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | crebbp-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC101884291 30 |
|
||
CREBBP (1 of 3) 31 |
|
OneToMany | |||
crebbpb 31 |
|
OneToMany | |||
crebbpa 31 |
|
OneToMany | |||
Dr.10005 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | nej 32 |
|
|
|
CG30417 31 |
|
ManyToMany | |||
CG13597 31 |
|
ManyToMany | |||
CG7229 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | F40F12.7 32 |
|
|
|
C29F9.5 31 |
|
OneToMany | |||
C49F5.5 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BDF2 31 |
|
ManyToMany | |
BDF1 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.8744 30 |
|
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
620027 | Likely Pathogenic: Rubinstein-Taybi syndrome 1 | 3,757,906(-) |
G/C NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg) |
MISSENSE | |
833980 | Benign: Rubinstein-Taybi syndrome | 3,731,926(-) |
G/A NM_004380.3(CREBBP):c.4740C>T (p.Gly1580=) |
SYNONYMOUS | |
841522 | Uncertain Significance: Rubinstein-Taybi syndrome | 3,850,820(-) |
C/T NM_004380.3(CREBBP):c.275G>A (p.Ser92Asn) |
MISSENSE | |
842619 | Pathogenic: Rubinstein-Taybi syndrome | 3,850,527(-) |
TG/T NM_004380.3(CREBBP):c.567del (p.Asn190fs) |
FRAMESHIFT | |
846543 | Pathogenic: Rubinstein-Taybi syndrome | 3,770,655(-) |
GT/G NM_004380.3(CREBBP):c.2794del (p.Thr932fs) |
FRAMESHIFT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1288n106 | CNV | deletion | 24896259 |
dgv4877n54 | CNV | gain | 21841781 |
dgv4878n54 | CNV | gain | 21841781 |
esv21490 | CNV | gain+loss | 19812545 |
esv2656605 | CNV | deletion | 23128226 |
esv2750419 | CNV | deletion | 23290073 |
esv3553027 | CNV | deletion | 23714750 |
esv3581943 | CNV | loss | 25503493 |
esv3637675 | CNV | loss | 21293372 |
esv3637676 | CNV | loss | 21293372 |
esv9178 | CNV | loss | 19470904 |
nsv1051657 | CNV | gain | 25217958 |
nsv1070739 | CNV | deletion | 25765185 |
nsv1121905 | CNV | deletion | 24896259 |
nsv1134492 | CNV | deletion | 24896259 |
nsv1140310 | OTHER | inversion | 24896259 |
nsv571261 | CNV | loss | 21841781 |
nsv571262 | CNV | gain | 21841781 |
nsv827526 | CNV | gain | 20364138 |
nsv833130 | CNV | gain | 17160897 |
nsv958207 | CNV | deletion | 24416366 |
nsv974750 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
rubinstein-taybi syndrome 1 |
|
|
menke-hennekam syndrome 1 |
|
|
acute myeloid leukemia with t(8;16)(p11;p13) translocation |
|
|
chromosome 16p13.3 deletion syndrome, proximal |
|
|
alacrima, achalasia, and mental retardation syndrome |
|
|