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CREBBP (CREB binding protein)

Written2000-07Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2009-03Cristina Gervasini
Division of Medical Genetics, San Paolo School of Medicine, University of Milan, 20142 Milan, Italy

(Note : for Links provided by Atlas : click)

Identity

Other namesCBP (cAMP Response Element-Binding Protein (CREB)-binding protein)
RSTS (Rubinstein-Taybi syndrome)
KAT3A
HGNC (Hugo) CREBBP
LocusID (NCBI) 1387
Atlas_Id 42
Location 16p13.3
Location_base_pair Starts at 3775056 and ends at 3930121 bp from pter ( according to hg19-Feb_2009)  [Mapping CREBBP.png]
Local_order centromere-ADCY9-CREBBP-TRAP1-telomere.
 
  A: CBP (16p22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. B: Map showing the position of BAC clone RP11-1072J2 (UCSC Genome Browser assembly Mar 2006), centered on CREBBP gene (top) and two images of partial metaphases from normal controls showing, after FISH, CREBBP-specific signals at 16p13.3 (bottom).
Fusion genes
(updated 2016)
CARKD (13q34) / CREBBP (16p13.3)CREBBP (16p13.3) / ATG10 (5q14.1)CREBBP (16p13.3) / CREB3L2 (7q33)
CREBBP (16p13.3) / CREBBP (16p13.3)CREBBP (16p13.3) / DNAJA3 (16p13.3)CREBBP (16p13.3) / HCN1 (5p12)
CREBBP (16p13.3) / KAT6A (8p11.21)CREBBP (16p13.3) / KAT6B (10q22.2)CREBBP (16p13.3) / KMT2A (11q23.3)
CREBBP (16p13.3) / LUC7L (16p13.3)CREBBP (16p13.3) / NUBP1 (16p13.13)CREBBP (16p13.3) / RHBDF1 (16p13.3)
CREBBP (16p13.3) / RUNXBP2 ()CREBBP (16p13.3) / SLX4 (16p13.3)CREBBP (16p13.3) / SPTB (14q23.3)
CREBBP (16p13.3) / TNR (1q25.1)CREBBP (16p13.3) / TRIM69 (15q21.1)CREBBP (16p13.3) / ZNF500 (16p13.3)
DNAJA3 (16p13.3) / CREBBP (16p13.3)EIF4E2 (2q37.1) / CREBBP (16p13.3)GGT7 (20q11.22) / CREBBP (16p13.3)
KAT6A (8p11.21) / CREBBP (16p13.3)KAT6B (10q22.2) / CREBBP (16p13.3)KMT2A (11q23.3) / CREBBP (16p13.3)
LGALS4 (19q13.2) / CREBBP (16p13.3)SIAH1 (16q12.1) / CREBBP (16p13.3)SNAP25 (20p12.2) / CREBBP (16p13.3)

DNA/RNA

Description The gene spans about 155 kb; transcription from centromere to telomere, number of exons: 31.
Transcription 10 kb mRNA, with a 7.3 kb coding sequence, start codon in exon 1, stop codon in exon 31.

Protein

Description 2442 amino acids; 265351 Da; predict PI=8.83; Known domains are: KIX= CREB binding , Bromo= Bromodomain, Zn=zinc-finger (corresponding to cysteine-histidine rich regions), HAT= acetyl transferasic, Q= poly Glutaminic stretch. From the carboxy to the N-terminus: Q-Zn-HAT-Zn-Bromo-KIX-Zn. Reported isoform b (2402 aa) lacking aa406-444 (exon 5). Methylation of the KIX domain by CARM1 blocks association with CREB. Phosphorylated upon DNA damage, probably by ATM or ATR.
Expression Wide expression; expression in the whole embryo as well brain; cDNA sources: mammary gland; lung; placenta; testis; lymph node; thymus; mouth; ear; kidney; embryonic tissue; larynx; pancreas; intestine; blood; heart; amniotic fluid; trachea; liver; thyroid; skin; connective tissue; uterus; eye; prostate; stomach; ovary; salivary gland; muscle; adrenal gland; bone marrow; adipose tissue; spleen; nerve; bone; bladder.
Localisation Nucleus.
Function Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes;
Acts as transcription co-activator by: i) enabling the interaction between different TF and RNAPolII complexes, ii) serving as molecular scaffold that brings enzymes to the promoter, iii) remodelling the chromatin favouring the open status, by histone and non-histone proteins acetylation.
Essential role in embryogenesis, cell differentiation, apoptosis, and proliferation;
Involved in the regulation of cell cycle during G1/S transition.
Homology EP300

Implicated in

Note
Entity t(8;16)(p11;p13)/M4 AML --> MOZ/CBP
Disease Acute non lymphocytic leukemia (AML) and treatment related AML (t-AML).
Prognosis Poor: remission is obtained in half cases; survival is often less than 1yr.
Cytogenetics +8 as an additional anomalies in half cases.
Hybrid/Mutated Gene 5' MOZ - 3' CBP.
Abnormal Protein N-term finger motifs and acetyl transferase from MOZ fused to most of CBP, with a breakpoint in 5' of the CREB binding domain of CBP.
  
Entity t(10;16)(q22;p13)/M4 AML --> MYST4/CBP
Disease Acute myeloid leukaemia (AML) M4/M5a and therapy-related myelodysplastic syndromes (MDS). Only 4 cases described.
Prognosis Poor, bad response to chemotherapy.
Hybrid/Mutated Gene 5' MYST4 - 3' CBP.
Abnormal Protein In-frame fusion between MYST4 exon 17 and CREBBP exon 3. Variants fusing MYST4 exon 16 and CREBBP exon 5; MYST4 exon 17 and CREBBP exon 7 have been also described. CREBBP-MYST4 transcripts have been detected.
  
Entity t(11;16)(q23;p13)/t-AML --> MLL/CBP
Disease Therapy related AML (t-AML); should be very close to the t(11;22)(q23;q13).
Prognosis Likely to be poor.
Hybrid/Mutated Gene 5' MLL - 3'CBP.
Abnormal Protein N-term AT hook and DNA methyltransferase from MLL fused to most of CBP; variable brakpoint in CBP: either 5' to the CREB binding domain (like in the t(8;16)), or just upstream the bromodomain.
  
Entity Rubinstein-Taybi syndrome
Note Due to CBP haploinsufficiency.
Disease Rare autosomal dominant congenital disorder characterized by postnatal growth retardation and psychomotor developmental delay, skeletal anomalies (broad and duplicated distal phalanges of thumbs and halluces are a landmark sign) and specific facial dysmorphisms. The latter include down-slanted palpebral fissures, broad nasal bridge, beaked nose and micrognathia. In addition, patients with RSTS have an increased, although not well documented, risk of tumor formation.
 
Top: Ideogram of chromosome 16 and chromosomal localisation of the CREBBP gene. Middle: the genomic region including CREBBP (red) and flanking genes is zoomed. Deletions spanning CREBBP and adjacent sequences (accounting for about 10% of CREBBP mutations) are indicated by black lines. Mosaic deletions (only 3 so far detected) are asterisked; dotted lines target low-resolution mapped breakpoints. So far 22 deletions have been reported and the differently sized ones (21) are here diagrammed.
Bottom: structure of CREBBP gene and protein. Different colours are used to link gene exons (pictured by rectangles) and corresponding protein domains. Different reported point mutations (n.108 in Leiden Open Variation Database) are shown: filled circles (nonsense) and dotted circles (frameshift), squares (missense) and triangles (splicing). Most mutations cluster to exons encoding the HAT domain.
Known domains from the carbossi-terminal are: Q= poly Glutaminic stretch, Zn=zinc-finger, HAT= acetyl transferasic, Bromo= Bromodomain, KIX= CREB binding).
  

Breakpoints

 
 
  Localization of breakpoints affecting CREBBP and partner genes in leukaemia-associated balanced translocations.

Bibliography

The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein.
Borrow J, Stanton VP Jr, Andresen JM, Becher R, Behm FG, Chaganti RS, Civin CI, Disteche C, Dube I, Frischauf AM, Horsman D, Mitelman F, Volinia S, Watmore AE, Housman DE.
Nat Genet. 1996 Sep;14(1):33-41.
PMID 8782817
 
p300 and CBP as transcriptional regulators and targets of oncogenic events.
Eckner R.
Biol Chem. 1996 Nov;377(11):685-8. (REVIEW)
PMID 8960368
 
Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3.
Giles RH, Petrij F, Dauwerse HG, den Hollander AI, Lushnikova T, van Ommen GJ, Goodman RH, Deaven LL, Doggett NA, Peters DJ, Breuning MH.
Genomics. 1997 May 15;42(1):96-114.
PMID 9177780
 
The multifunctional role of the co-activator CBP in transcriptional regulation.
Goldman PS, Tran VK, Goodman RH.
Recent Prog Horm Res. 1997;52:103-19; discussion 119-20. (REVIEW)
PMID 9238849
 
MLL is fused to CBP, a histone acetyltransferase, in therapy-related acute myeloid leukemia with a t(11;16)(q23;p13.3).
Sobulo OM, Borrow J, Tomek R, Reshmi S, Harden A, Schlegelberger B, Housman D, Doggett NA, Rowley JD, Zeleznik-Le NJ.
Proc Natl Acad Sci U S A. 1997 Aug 5;94(16):8732-7.
PMID 9238046
 
The t(11;16)(q23;p13) translocation in myelodysplastic syndrome fuses the MLL gene to the CBP gene.
Taki T, Sako M, Tsuchida M, Hayashi Y.
Blood. 1997 Jun 1;89(11):3945-50.
PMID 9166831
 
p300 and CBP: partners for life and death.
Giordano A, Avantaggiati ML.
J Cell Physiol. 1999 Nov;181(2):218-30. (REVIEW)
PMID 10497301
 
Developmentally regulated expression of the transcriptional cofactors/histone acetyltransferases CBP and p300 during mouse embryogenesis.
Partanen A, Motoyama J, Hui CC.
Int J Dev Biol. 1999 Sep;43(6):487-94.
PMID 10610021
 
Function for p300 and not CBP in the apoptotic response to DNA damage.
Yuan ZM, Huang Y, Ishiko T, Nakada S, Utsugisawa T, Shioya H, Utsugisawa Y, Shi Y, Weichselbaum R, Kufe D.
Oncogene. 1999 Oct 7;18(41):5714-7.
PMID 10523850
 
CBP/p300 histone acetyl-transferase activity is important for the G1/S transition.
Ait-Si-Ali S, Polesskaya A, Filleur S, Ferreira R, Duquet A, Robin P, Vervish A, Trouche D, Cabon F, Harel-Bellan A.
Oncogene. 2000 May 11;19(20):2430-7.
PMID 10828885
 
p300/CBP/p53 interaction and regulation of the p53 response.
Grossman SR.
Eur J Biochem. 2001 May;268(10):2773-8. (REVIEW)
PMID 11358491
 
CBP, a transcriptional coactivator and acetyltransferase.
McManus KJ, Hendzel MJ.
Biochem Cell Biol. 2001;79(3):253-66. (REVIEW)
PMID 11467739
 
CREB-binding protein and p300 in transcriptional regulation.
Vo N, Goodman RH.
J Biol Chem. 2001 Apr 27;276(17):13505-8. Epub 2001 Mar 8. (REVIEW)
PMID 11279224
 
CBP and p300: versatile coregulators with important roles in hematopoietic gene expression.
Blobel GA.
J Leukoc Biol. 2002 Apr;71(4):545-56. (REVIEW)
PMID 11927640
 
The versatile functions of the transcriptional coactivators p300 and CBP and their roles in disease.
Janknecht R.
Histol Histopathol. 2002 Apr;17(2):657-68. (REVIEW)
PMID 11962765
 
Transcriptional control of the inflammatory response: a role for the CREB-binding protein (CBP).
Matt T.
Acta Med Austriaca. 2002;29(3):77-9. (REVIEW)
PMID 12168567
 
Ca(2+)/CREB/CBP-dependent gene regulation: a shared mechanism critical in long-term synaptic plasticity and neuronal survival.
Bito H, Takemoto-Kimura S.
Cell Calcium. 2003 Oct-Nov;34(4-5):425-30. (REVIEW)
PMID 12909086
 
The multifunctional role of E1A in the transcriptional regulation of CREB/CBP-dependent target genes.
Brockmann D, Esche H.
Curr Top Microbiol Immunol. 2003;272:97-129. (REVIEW)
PMID 12747548
 
Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration.
Alarcon JM, Malleret G, Touzani K, Vronskaya S, Ishii S, Kandel ER, Barco A.
Neuron. 2004 Jun 24;42(6):947-59.
PMID 15207239
 
CBP and p300: HATs for different occasions.
Kalkhoven E.
Biochem Pharmacol. 2004 Sep 15;68(6):1145-55. (REVIEW)
PMID 15313412
 
Targeting CREB-binding protein (CBP) loss of function as a therapeutic strategy in neurological disorders.
Rouaux C, Loeffler JP, Boutillier AL.
Biochem Pharmacol. 2004 Sep 15;68(6):1157-64. (REVIEW)
PMID 15313413
 
Rubinstein-Taybi syndrome.
Hennekam RC.
Eur J Hum Genet. 2006 Sep;14(9):981-5. Epub 2006 Jul 26. (REVIEW)
PMID 16868563
 
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.
Gervasini C, Castronovo P, Bentivegna A, Mottadelli F, Faravelli F, Giovannucci-Uzielli ML, Pessagno A, Lucci-Cordisco E, Pinto AM, Salviati L, Selicorni A, Tenconi R, Neri G, Larizza L.
Genomics. 2007 Nov;90(5):567-73. Epub 2007 Sep 12.
PMID 17855048
 
CBP/p300 are bimodal regulators of Wnt signaling.
Li J, Sutter C, Parker DS, Blauwkamp T, Fang M, Cadigan KM.
EMBO J. 2007 May 2;26(9):2284-94. Epub 2007 Apr 5.
PMID 17410209
 
Aberrant forms of histone acetyltransferases in human disease.
Van Beekum O, Kalkhoven E.
Subcell Biochem. 2007;41:233-62. (REVIEW)
PMID 17484131
 
The structural basis of protein acetylation by the p300/CBP transcriptional coactivator.
Liu X, Wang L, Zhao K, Thompson PR, Hwang Y, Marmorstein R, Cole PA.
Nature. 2008 Feb 14;451(7180):846-50.
PMID 18273021
 
t(8;16)(p11;p13) predisposes to a transient but potentially recurring neonatal leukemia.
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Hum Pathol. 2008 Jul 25. [Epub ahead of print]
PMID 18657848
 

Citation

This paper should be referenced as such :
Gervasini, C
CREBBP (CREB binding protein)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(2):103-107.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/CBPID42.html
History of this paper:
Huret, JL. CREBBP (CREB binding protein (Rubinstein-Taybi syndrome)). Atlas Genet Cytogenet Oncol Haematol. 2000;4(3):101-102.
http://documents.irevues.inist.fr/bitstream/handle/2042/37634/07-2000-CBPID42.pdf


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 20 ]
  11q23 rearrangements (KMT2A) in leukaemia
11q23 rearrangements (KMT2A) in therapy related leukaemias
Classification of myelodysplasic syndromes 1999
del(11)(q23q23) KMT2A/CBL;t(11;11)(q23;q23) KMT2A/CBL
del(11)(q23q23) KMT2A/ARHGEF12
inv(8)(p11q13) KAT6A/NCOA2
t(1;11)(p32;q23) KMT2A/EPS15
t(2;11)(q37;q23) KMT2A/SEPT2
t(3;11)(p25;p15) ANKRD28/NUP98
t(3;11)(q21;q23) KMT2A/EEFSEC
t(8;12)(q13;p13) ETV6/NCOA2
t(8;16)(p11;p13) KAT6A/CREBBP
t(8;16)(p11;p13) KAT6A/CREBBP in treatment related leukemia
t(8;22)(p11;q13) KAT6A/EP300
t(9;13)(p12;q21) PAX5/DACH1
t(10;16)(q22;p13) KAT6B/CREBBP
t(11;12)(p15;p13) NUP98/KDM5A
t(11;16)(q23;p13.3) KMT2A/CREBBP
t(11;22)(q23;q13) KMT2A/EP300
t(20;21)(q13.2;q22.12) ZFP64/RUNX1

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Soft Tissues: Angiofibroma
Soft Tissues: Rhabdomyosarcoma
Lung: Translocations in Small Cell Carcinoma

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Rubinstein-Taybi syndrome (RTS)

External links

Nomenclature
HGNC (Hugo)CREBBP   2348
Cards
AtlasCBPID42
Entrez_Gene (NCBI)CREBBP  1387  CREB binding protein
AliasesCBP; KAT3A; RSTS
GeneCards (Weizmann)CREBBP
Ensembl hg19 (Hinxton)ENSG00000005339 [Gene_View]  chr16:3775056-3930121 [Contig_View]  CREBBP [Vega]
Ensembl hg38 (Hinxton)ENSG00000005339 [Gene_View]  chr16:3775056-3930121 [Contig_View]  CREBBP [Vega]
ICGC DataPortalENSG00000005339
TCGA cBioPortalCREBBP
AceView (NCBI)CREBBP
Genatlas (Paris)CREBBP
WikiGenes1387
SOURCE (Princeton)CREBBP
Genomic and cartography
GoldenPath hg19 (UCSC)CREBBP  -     chr16:3775056-3930121 -  16p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CREBBP  -     16p13.3   [Description]    (hg38-Dec_2013)
EnsemblCREBBP - 16p13.3 [CytoView hg19]  CREBBP - 16p13.3 [CytoView hg38]
Mapping of homologs : NCBICREBBP [Mapview hg19]  CREBBP [Mapview hg38]
OMIM180849   600140   
Gene and transcription
Genbank (Entrez)AB210043 AK124320 AK304771 BC036486 U47741
RefSeq transcript (Entrez)NM_001079846 NM_004380
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_009873 NT_010393 NW_004929400
Consensus coding sequences : CCDS (NCBI)CREBBP
Cluster EST : UnigeneHs.459759 [ NCBI ]
CGAP (NCI)Hs.459759
Alternative Splicing GalleryENSG00000005339
Gene ExpressionCREBBP [ NCBI-GEO ]   CREBBP [ EBI - ARRAY_EXPRESS ]   CREBBP [ SEEK ]   CREBBP [ MEM ]
Gene Expression Viewer (FireBrowse)CREBBP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1387
GTEX Portal (Tissue expression)CREBBP
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92793 (Uniprot)
NextProtQ92793  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92793
Splice isoforms : SwissVarQ92793 (Swissvar)
PhosPhoSitePlusQ92793
Domaine pattern : Prosite (Expaxy)BROMODOMAIN_1 (PS00633)    BROMODOMAIN_2 (PS50014)    CBP_P300_HAT (PS51727)    KIX (PS50952)    ZF_TAZ (PS50134)    ZF_ZZ_1 (PS01357)    ZF_ZZ_2 (PS50135)   
Domains : Interpro (EBI)Bromodomain    Bromodomain_CS    CBP_P300_HAT    DUF902_CREBbp    Histone_AcTrfase_Rtt109/CBP    KIX_dom    Nuc_rcpt_coact    Nuc_rcpt_coact_CREBbp    Znf_TAZ    Znf_ZZ   
Domain families : Pfam (Sanger)Bromodomain (PF00439)    Creb_binding (PF09030)    DUF902 (PF06001)    HAT_KAT11 (PF08214)    KIX (PF02172)    zf-TAZ (PF02135)    ZZ (PF00569)   
Domain families : Pfam (NCBI)pfam00439    pfam09030    pfam06001    pfam08214    pfam02172    pfam02135    pfam00569   
Domain families : Smart (EMBL)BROMO (SM00297)  ZnF_TAZ (SM00551)  ZnF_ZZ (SM00291)  
DMDM Disease mutations1387
Blocks (Seattle)CREBBP
PDB (SRS)1JSP    1LIQ    1RDT    1WO3    1WO4    1WO5    1WO6    1WO7    1ZOQ    2D82    2KJE    2KWF    2L84    2L85    2LXS    2LXT    2RNY    3DWY    3P1C    3P1D    3P1E    3P1F    3SVH    4A9K    4N3W    4N4F    4NR4    4NR5    4NR6    4NR7    4NYV    4NYW    4NYX    4OUF    4TQN    4TS8    4WHU   
PDB (PDBSum)1JSP    1LIQ    1RDT    1WO3    1WO4    1WO5    1WO6    1WO7    1ZOQ    2D82    2KJE    2KWF    2L84    2L85    2LXS    2LXT    2RNY    3DWY    3P1C    3P1D    3P1E    3P1F    3SVH    4A9K    4N3W    4N4F    4NR4    4NR5    4NR6    4NR7    4NYV    4NYW    4NYX    4OUF    4TQN    4TS8    4WHU   
PDB (IMB)1JSP    1LIQ    1RDT    1WO3    1WO4    1WO5    1WO6    1WO7    1ZOQ    2D82    2KJE    2KWF    2L84    2L85    2LXS    2LXT    2RNY    3DWY    3P1C    3P1D    3P1E    3P1F    3SVH    4A9K    4N3W    4N4F    4NR4    4NR5    4NR6    4NR7    4NYV    4NYW    4NYX    4OUF    4TQN    4TS8    4WHU   
PDB (RSDB)1JSP    1LIQ    1RDT    1WO3    1WO4    1WO5    1WO6    1WO7    1ZOQ    2D82    2KJE    2KWF    2L84    2L85    2LXS    2LXT    2RNY    3DWY    3P1C    3P1D    3P1E    3P1F    3SVH    4A9K    4N3W    4N4F    4NR4    4NR5    4NR6    4NR7    4NYV    4NYW    4NYX    4OUF    4TQN    4TS8    4WHU   
Structural Biology KnowledgeBase1JSP    1LIQ    1RDT    1WO3    1WO4    1WO5    1WO6    1WO7    1ZOQ    2D82    2KJE    2KWF    2L84    2L85    2LXS    2LXT    2RNY    3DWY    3P1C    3P1D    3P1E    3P1F    3SVH    4A9K    4N3W    4N4F    4NR4    4NR5    4NR6    4NR7    4NYV    4NYW    4NYX    4OUF    4TQN    4TS8    4WHU   
SCOP (Structural Classification of Proteins)1JSP    1LIQ    1RDT    1WO3    1WO4    1WO5    1WO6    1WO7    1ZOQ    2D82    2KJE    2KWF    2L84    2L85    2LXS    2LXT    2RNY    3DWY    3P1C    3P1D    3P1E    3P1F    3SVH    4A9K    4N3W    4N4F    4NR4    4NR5    4NR6    4NR7    4NYV    4NYW    4NYX    4OUF    4TQN    4TS8    4WHU   
CATH (Classification of proteins structures)1JSP    1LIQ    1RDT    1WO3    1WO4    1WO5    1WO6    1WO7    1ZOQ    2D82    2KJE    2KWF    2L84    2L85    2LXS    2LXT    2RNY    3DWY    3P1C    3P1D    3P1E    3P1F    3SVH    4A9K    4N3W    4N4F    4NR4    4NR5    4NR6    4NR7    4NYV    4NYW    4NYX    4OUF    4TQN    4TS8    4WHU   
SuperfamilyQ92793
Human Protein AtlasENSG00000005339
Peptide AtlasQ92793
HPRD02534
IPIIPI00023339   IPI00155855   IPI01009314   IPI00619932   
Protein Interaction databases
DIP (DOE-UCLA)Q92793
IntAct (EBI)Q92793
FunCoupENSG00000005339
BioGRIDCREBBP
STRING (EMBL)CREBBP
ZODIACCREBBP
Ontologies - Pathways
QuickGOQ92793
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  histone acetyltransferase complex  nuclear chromatin  core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription factor binding  RNA polymerase II activating transcription factor binding  RNA polymerase II transcription coactivator activity  transcriptional repressor activity, RNA polymerase II transcription factor binding  response to hypoxia  p53 binding  stimulatory C-type lectin receptor signaling pathway  chromatin binding  damaged DNA binding  transcription factor activity, sequence-specific DNA binding  transcription coactivator activity  transcription coactivator activity  transcription coactivator activity  histone acetyltransferase activity  signal transducer activity  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytoplasm  regulation of transcription, DNA-templated  regulation of transcription, DNA-templated  transcription initiation from RNA polymerase II promoter  protein complex assembly  protein acetylation  signal transduction  Notch signaling pathway  transcription factor binding  zinc ion binding  cell proliferation  regulation of smoothened signaling pathway  viral process  acetyltransferase activity  acetyltransferase activity  histone acetylation  nuclear body  N-terminal peptidyl-lysine acetylation  positive regulation of type I interferon production  peptide N-acetyltransferase activity  cellular response to UV  homeostatic process  embryonic digit morphogenesis  peroxisome proliferator activated receptor binding  regulation of apoptotic process  MRF binding  cellular lipid metabolic process  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  rhythmic process  positive regulation of cell adhesion molecule production  regulation of transcription from RNA polymerase II promoter in response to hypoxia  response to interleukin-1  cell-cell adhesion  regulation of cellular response to heat  positive regulation of G1/S transition of mitotic cell cycle  positive regulation of NIK/NF-kappaB signaling  beta-catenin-TCF complex assembly  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  histone acetyltransferase complex  nuclear chromatin  core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription factor binding  RNA polymerase II activating transcription factor binding  RNA polymerase II transcription coactivator activity  transcriptional repressor activity, RNA polymerase II transcription factor binding  response to hypoxia  p53 binding  stimulatory C-type lectin receptor signaling pathway  chromatin binding  damaged DNA binding  transcription factor activity, sequence-specific DNA binding  transcription coactivator activity  transcription coactivator activity  transcription coactivator activity  histone acetyltransferase activity  signal transducer activity  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription factor complex  cytoplasm  regulation of transcription, DNA-templated  regulation of transcription, DNA-templated  transcription initiation from RNA polymerase II promoter  protein complex assembly  protein acetylation  signal transduction  Notch signaling pathway  transcription factor binding  zinc ion binding  cell proliferation  regulation of smoothened signaling pathway  viral process  acetyltransferase activity  acetyltransferase activity  histone acetylation  nuclear body  N-terminal peptidyl-lysine acetylation  positive regulation of type I interferon production  peptide N-acetyltransferase activity  cellular response to UV  homeostatic process  embryonic digit morphogenesis  peroxisome proliferator activated receptor binding  regulation of apoptotic process  MRF binding  cellular lipid metabolic process  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  rhythmic process  positive regulation of cell adhesion molecule production  regulation of transcription from RNA polymerase II promoter in response to hypoxia  response to interleukin-1  cell-cell adhesion  regulation of cellular response to heat  positive regulation of G1/S transition of mitotic cell cycle  positive regulation of NIK/NF-kappaB signaling  beta-catenin-TCF complex assembly  
Pathways : BIOCARTAPelp1 Modulation of Estrogen Receptor Activity [Genes]    Multi-step Regulation of Transcription by Pitx2 [Genes]    WNT Signaling Pathway [Genes]    TGF beta signaling pathway [Genes]    The information-processing pathway at the IFN-beta enhancer [Genes]    Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) [Genes]    IL-7 Signal Transduction [Genes]    Inhibition of Huntington's disease neurodegeneration by histone deacetylase inhibitors [Genes]    Regulation of transcriptional activity by PML [Genes]    Acetylation and Deacetylation of RelA in The Nucleus [Genes]    NFkB activation by Nontypeable Hemophilus influenzae [Genes]    Role of PPAR-gamma Coactivators in Obesity and Thermogenesis [Genes]    Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor [Genes]    CARM1 and Regulation of the Estrogen Receptor [Genes]    Transcription Regulation by Methyltransferase of CARM1 [Genes]    NFAT and Hypertrophy of the heart (Transcription in the broken heart) [Genes]    Granzyme A mediated Apoptosis Pathway [Genes]    Control of Gene Expression by Vitamin D Receptor [Genes]   
Pathways : KEGGHIF-1 signaling pathway    FoxO signaling pathway    Cell cycle    Wnt signaling pathway    Notch signaling pathway    TGF-beta signaling pathway    Adherens junction    Jak-STAT signaling pathway    Long-term potentiation    Melanogenesis    Thyroid hormone signaling pathway    Huntington's disease    Tuberculosis    Hepatitis B    Influenza A    HTLV-I infection    Herpes simplex infection    Epstein-Barr virus infection    Pathways in cancer    Viral carcinogenesis    MicroRNAs in cancer    Renal cell carcinoma    Prostate cancer   
REACTOMEQ92793 [protein]
REACTOME PathwaysR-HSA-1989781 PPARA activates gene expression [pathway]
REACTOME PathwaysR-HSA-1368108 BMAL1:CLOCK,NPAS2 activates circadian gene expression [pathway]
REACTOME PathwaysR-HSA-201722 formation of the beta-catenin:TCF transactivating complex [pathway]
REACTOME PathwaysR-HSA-3371568 Attenuation phase [pathway]
REACTOME PathwaysR-HSA-400253 Circadian Clock [pathway]
REACTOME PathwaysR-HSA-983231 Factors involved in megakaryocyte development and platelet production [pathway]
REACTOME PathwaysR-HSA-3214847 HATs acetylate histones [pathway]
REACTOME PathwaysR-HSA-1234158 Regulation of gene expression by Hypoxia-inducible Factor [pathway]
REACTOME PathwaysR-HSA-350054 Notch-HLH transcription pathway [pathway]
REACTOME PathwaysR-HSA-918233 TRAF3-dependent IRF activation pathway [pathway]
REACTOME PathwaysR-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription [pathway]
REACTOME PathwaysR-HSA-1368082 RORA activates gene expression [pathway]
REACTOME PathwaysR-HSA-1912408 Pre-NOTCH Transcription and Translation [pathway]
REACTOME PathwaysR-HSA-3134973 LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production [pathway]
REACTOME PathwaysR-HSA-381340 Transcriptional regulation of white adipocyte differentiation [pathway]
REACTOME PathwaysR-HSA-933541 TRAF6 mediated IRF7 activation [pathway]
REACTOME PathwaysR-HSA-2032785 YAP1- and WWTR1 (TAZ)-stimulated gene expression [pathway]
REACTOME PathwaysR-HSA-2426168 Activation of gene expression by SREBF (SREBP) [pathway]
REACTOME PathwaysR-HSA-400206 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) [pathway]
REACTOME PathwaysR-HSA-2151201 Transcriptional activation of mitochondrial biogenesis [pathway]
REACTOME PathwaysR-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants [pathway]
REACTOME PathwaysR-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants [pathway]
REACTOME PathwaysR-HSA-5621575 CD209 (DC-SIGN) signaling [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkCREBBP
Wikipedia pathwaysCREBBP
Orthology - Evolution
OrthoDB1387
GeneTree (enSembl)ENSG00000005339
Phylogenetic Trees/Animal Genes : TreeFamCREBBP
Homologs : HomoloGeneCREBBP
Homology/Alignments : Family Browser (UCSC)CREBBP
Gene fusions - Rearrangements
Fusion : MitelmanCREBBP/ATG10 [16p13.3/5q14.1]  
Fusion : MitelmanCREBBP/HCN1 [16p13.3/5p12]  [t(5;16)(p12;p13)]  
Fusion : MitelmanCREBBP/KAT6A [16p13.3/8p11.21]  [t(8;16)(p11;p13)]  
Fusion : MitelmanCREBBP/LUC7L [16p13.3/16p13.3]  [t(16;16)(p13;p13)]  
Fusion : MitelmanCREBBP/NUBP1 [16p13.3/16p13.13]  [t(16;16)(p13;p13)]  
Fusion : MitelmanCREBBP/RHBDF1 [16p13.3/16p13.3]  [t(16;16)(p13;p13)]  
Fusion : MitelmanCREBBP/SLX4 [16p13.3/16p13.3]  [del(16)(p13p13)]  [t(16;16)(p13;p13)]  
Fusion : MitelmanCREBBP/ZNF500 [16p13.3/16p13.3]  [t(16;16)(p13;p13)]  
Fusion : MitelmanKAT6A/CREBBP [8p11.21/16p13.3]  [t(8;16)(p11;p13)]  
Fusion : MitelmanKAT6B/CREBBP [10q22.2/16p13.3]  [t(10;16)(q22;p13)]  
Fusion : COSMICKMT2A [11q23.3]  -  CREBBP [16p13.3]  [fusion_1874]  [fusion_1875]  [fusion_1876]  [fusion_2093]  [fusion_2095]  [fusion_2097]  [fusion_2098]  
[fusion_2109]  [fusion_2110]  [fusion_2116]  [fusion_2117]  
Fusion: TCGACREBBP 16p13.3 ATG10 5q14.1 HNSC
Fusion: TCGACREBBP 16p13.3 HCN1 5p12 LUSC
Fusion: TCGACREBBP 16p13.3 KAT6A 8p11.21 LAML
Fusion: TCGACREBBP 16p13.3 LUC7L 16p13.3 LUAD
Fusion: TCGACREBBP 16p13.3 NUBP1 16p13.13 BRCA
Fusion: TCGACREBBP 16p13.3 ZNF500 16p13.3 BRCA
Fusion : TICdbKAT6A [8p11.21]  -  CREBBP [16p13.3]
Fusion : TICdbKAT6B [10q22.2]  -  CREBBP [16p13.3]
Fusion : TICdbKMT2A [11q23.3]  -  CREBBP [16p13.3]
Fusion Cancer (Beijing)CREBBP [16p13.3]  -  SPTB [14q23.3]  [FUSC004298]
Polymorphisms : SNP, variants
NCBI Variation ViewerCREBBP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CREBBP
dbVarCREBBP
ClinVarCREBBP
1000_GenomesCREBBP 
Exome Variant ServerCREBBP
ExAC (Exome Aggregation Consortium)CREBBP (select the gene name)
Genetic variants : HAPMAP1387
Genomic Variants (DGV)CREBBP [DGVbeta]
Mutations
ICGC Data PortalCREBBP 
TCGA Data PortalCREBBP 
Broad Tumor PortalCREBBP
OASIS PortalCREBBP [ Somatic mutations - Copy number]
Cancer Gene: CensusCREBBP 
Somatic Mutations in Cancer : COSMICCREBBP 
intOGen PortalCREBBP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch CREBBP
DgiDB (Drug Gene Interaction Database)CREBBP
DoCM (Curated mutations)CREBBP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CREBBP (select a term)
intoGenCREBBP
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)16:3775056-3930121  ENSG00000005339
CONAN: Copy Number AnalysisCREBBP 
Mutations and Diseases : HGMDCREBBP
OMIM180849    600140   
MedgenCREBBP
Genetic Testing Registry CREBBP
NextProtQ92793 [Medical]
TSGene1387
GENETestsCREBBP
Huge Navigator CREBBP [HugePedia]
snp3D : Map Gene to Disease1387
BioCentury BCIQCREBBP
ClinGenCREBBP (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1387
Chemical/Pharm GKB GenePA26866
Clinical trialCREBBP
Miscellaneous
canSAR (ICR)CREBBP (select the gene name)
Other databaseLeiden Open Variation Database
Other databaseDECIPHER DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources
Other databaseHPRD Human Protein Reference Database
Other databasehttp://cancergenome.broadinstitute.org/index.php?tgene=CREBBP
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCREBBP
EVEXCREBBP
GoPubMedCREBBP
iHOPCREBBP
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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