CREBBP (CREB binding protein (Rubinstein-Taybi syndrome))

Identity

Other names	CBP (CREB-binding protein)
	RTS (Rubinstein-Taybi syndrome)
	RSTS
Hugo	CREBBP
Location	16p13.3
	CBP (16p22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

DNA/RNA

Description	the gene spans about 190 kb; transcription from centromere to telomere
Transcription	8.7 kb mRNA, with a 7.3 kb coding sequence

Protein

Description	2442 amino acids; 265 kDa; from NH2-term, is made of a CREB-Binding domain, a bromodomain, cystidine/Histidine-rich domains, and Glutamine-rich domains in COOH-term
Expression	wide expression; expression in the whole embryo as well
Localisation	nucleus
Function	binds specifically to the DNA-binding protein CREB and connects it to the basal transcriptional machinery: transcription coactivator, with P300; has histone acetyltransferase activity; essential role in embryogenesis, cell differentiation,apoptosis, and proliferation; involved in the regulation of cell cycle during G1/S transition
Homology	P300

Implicated in

Entity	t(8;16)(p11;p13)/M4 ANLL --> MOZ/CBP
Disease	acute non lymphocytic leukemia (ANLL) and treatment related ANLL (t-ANLL)
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(11;16)(q23;p13)/t-ANLL --> MLL/CBP
Disease	treatment related ANLL (t-ANLL); 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 in 5' of the CREB binding domain (like in the t(8;16)), or just upstream of the bromodomain
Entity	Rubinstein-Taybi syndrome
Note	due to CBP haploinsufficiency.
Disease	autosomal dominant disorder with mental retardation, facial dysmorphia, broad thumbs/halluces, cardiac anomalies, and an increased risk of medulloblastoma, meningioma, and neuroblastoma

Breakpoints

External links

	Nomenclature
Hugo	CREBBP
GDB	CREBBP
Entrez_Gene	CREBBP  1387  CREB binding protein (Rubinstein-Taybi syndrome)
	Cards
Atlas	CBPID42
GeneCards	CREBBP
Ensembl	CREBBP [Search_View]   ENSG00000005339 [Gene_View]
Genatlas	CREBBP
GeneLynx	CREBBP
eGenome	CREBBP
euGene	1387
	Genomic and cartography
GoldenPath	CREBBP  -  16p13.3   chr16:3715057-3870122 -  16p13.3   [Description]    (hg18-Mar_2006)
Ensembl	CREBBP - 16p13.3 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	CREBBP
	Gene and transcription
Genbank	AB210043 [ ENTREZ ]
Genbank	AK124320 [ ENTREZ ]
Genbank	BC036486 [ ENTREZ ]
Genbank	U47741 [ ENTREZ ]
Genbank	U85962 [ ENTREZ ]
RefSeq	NM_001079846 [ SRS ]    NM_001079846 [ ENTREZ ]
RefSeq	NM_004380 [ SRS ]    NM_004380 [ ENTREZ ]
RefSeq	AC_000059 [ SRS ]    AC_000059 [ ENTREZ ]
RefSeq	NC_000016 [ SRS ]    NC_000016 [ ENTREZ ]
RefSeq	NT_037887 [ SRS ]    NT_037887 [ ENTREZ ]
RefSeq	NW_926018 [ SRS ]    NW_926018 [ ENTREZ ]
AceView	CREBBP AceView - NCBI
Unigene	Hs.459759 [ SRS ]    Hs.459759 [ NCBI ]     HS459759 [ spliceNest ]
Fast-db	2903 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q92793 [ SRS]    Q92793 [ EXPASY ]     Q92793 [ INTERPRO ]
Prosite	PS00633 BROMODOMAIN_1 [ SRS ]    PS00633 BROMODOMAIN_1 [ Expasy ]
Prosite	PS50014 BROMODOMAIN_2 [ SRS ]    PS50014 BROMODOMAIN_2 [ Expasy ]
Prosite	PS50952 KIX [ SRS ]    PS50952 KIX [ Expasy ]
Prosite	PS50134 ZF_TAZ [ SRS ]    PS50134 ZF_TAZ [ Expasy ]
Prosite	PS01357 ZF_ZZ_1 [ SRS ]    PS01357 ZF_ZZ_1 [ Expasy ]
Prosite	PS50135 ZF_ZZ_2 [ SRS ]    PS50135 ZF_ZZ_2 [ Expasy ]
Interpro	IPR001487 Bromodomain [ SRS ]    IPR001487 Bromodomain [ EBI ]
Interpro	IPR010303 DUF902_CREBbp [ SRS ]    IPR010303 DUF902_CREBbp [ EBI ]
Interpro	IPR003101 KIX [ SRS ]    IPR003101 KIX [ EBI ]
Interpro	IPR014744 Nuc_rcpt_coact_CREBbp [ SRS ]    IPR014744 Nuc_rcpt_coact_CREBbp [ EBI ]
Interpro	IPR009255 Trans_coact [ SRS ]    IPR009255 Trans_coact [ EBI ]
Interpro	IPR000197 Znf_TAZ [ SRS ]    IPR000197 Znf_TAZ [ EBI ]
Interpro	IPR000433 Znf_ZZ [ SRS ]    IPR000433 Znf_ZZ [ EBI ]
CluSTr	Q92793
Pfam	PF00439 Bromodomain [ SRS ]    PF00439 Bromodomain [ Sanger ]    pfam00439 [ NCBI-CDD ]
Pfam	PF09030 Creb_binding [ SRS ]    PF09030 Creb_binding [ Sanger ]    pfam09030 [ NCBI-CDD ]
Pfam	PF06001 DUF902 [ SRS ]    PF06001 DUF902 [ Sanger ]    pfam06001 [ NCBI-CDD ]
Pfam	PF06010 DUF906 [ SRS ]    PF06010 DUF906 [ Sanger ]    pfam06010 [ NCBI-CDD ]
Pfam	PF02172 KIX [ SRS ]    PF02172 KIX [ Sanger ]    pfam02172 [ NCBI-CDD ]
Pfam	PF02135 zf-TAZ [ SRS ]    PF02135 zf-TAZ [ Sanger ]    pfam02135 [ NCBI-CDD ]
Pfam	PF00569 ZZ [ SRS ]    PF00569 ZZ [ Sanger ]    pfam00569 [ NCBI-CDD ]
Smart	SM00297 BROMO [EMBL]
Smart	SM00551 ZnF_TAZ [EMBL]
Smart	SM00291 ZnF_ZZ [EMBL]
Blocks	Q92793
PDB	1JSP [ SRS ]    1JSP [ PdbSum ],   1JSP [ IMB ]   1JSP [ RSDB ]
PDB	1LIQ [ SRS ]    1LIQ [ PdbSum ],   1LIQ [ IMB ]   1LIQ [ RSDB ]
PDB	1WO3 [ SRS ]    1WO3 [ PdbSum ],   1WO3 [ IMB ]   1WO3 [ RSDB ]
PDB	1WO4 [ SRS ]    1WO4 [ PdbSum ],   1WO4 [ IMB ]   1WO4 [ RSDB ]
PDB	1WO5 [ SRS ]    1WO5 [ PdbSum ],   1WO5 [ IMB ]   1WO5 [ RSDB ]
PDB	1WO6 [ SRS ]    1WO6 [ PdbSum ],   1WO6 [ IMB ]   1WO6 [ RSDB ]
PDB	1WO7 [ SRS ]    1WO7 [ PdbSum ],   1WO7 [ IMB ]   1WO7 [ RSDB ]
PDB	1ZOQ [ SRS ]    1ZOQ [ PdbSum ],   1ZOQ [ IMB ]   1ZOQ [ RSDB ]
PDB	2D82 [ SRS ]    2D82 [ PdbSum ],   2D82 [ IMB ]   2D82 [ RSDB ]
HPRD	02534
	Protein Interaction databases
DIP	Q92793
IntAct	Q92793
	Polymorphism : SNP, mutations, diseases
OMIM	180849;600140    [ map ]
GENECLINICS	180849;600140
SNP	CREBBP [dbSNP-NCBI]
SNP	NM_001079846 [SNP-NCI]
SNP	NM_004380 [SNP-NCI]
SNP	CREBBP [GeneSNPs - Utah]  CREBBP] [HGBASE - SRS]
HAPMAP	CREBBP [HAPMAP]
COSMIC	CREBBP [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	CREBBP [Translocation breakpoints In Cancer]
HGMD	CREBBP
	General knowledge
Family Browser	CREBBP [UCSC Family Browser]
SOURCE	NM_001079846
SOURCE	NM_004380
SMD	Hs.459759
SAGE	Hs.459759
Enzyme	2.3.1.48 [ Enzyme-SRS ]   2.3.1.48 [ Brenda-SRS ]   2.3.1.48 [ KEGG ]   2.3.1.48 [ WIT ]
GO	histone acetyltransferase complex [Amigo]  histone acetyltransferase complex
GO	response to hypoxia [Amigo]  response to hypoxia
GO	transcription factor activity [Amigo]  transcription factor activity
GO	transcription coactivator activity [Amigo]  transcription coactivator activity
GO	transcription coactivator activity [Amigo]  transcription coactivator activity
GO	transcription coactivator activity [Amigo]  transcription coactivator activity
GO	histone acetyltransferase activity [Amigo]  histone acetyltransferase activity
GO	histone acetyltransferase activity [Amigo]  histone acetyltransferase activity
GO	signal transducer activity [Amigo]  signal transducer activity
GO	protein binding [Amigo]  protein binding
GO	nucleus [Amigo]  nucleus
GO	nucleus [Amigo]  nucleus
GO	cytoplasm [Amigo]  cytoplasm
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	protein complex assembly [Amigo]  protein complex assembly
GO	signal transduction [Amigo]  signal transduction
GO	zinc ion binding [Amigo]  zinc ion binding
GO	acetyltransferase activity [Amigo]  acetyltransferase activity
GO	histone acetylation [Amigo]  histone acetylation
GO	histone acetylation [Amigo]  histone acetylation
GO	transferase activity [Amigo]  transferase activity
GO	N-terminal peptidyl-lysine acetylation [Amigo]  N-terminal peptidyl-lysine acetylation
GO	homeostatic process [Amigo]  homeostatic process
GO	positive regulation of transcription [Amigo]  positive regulation of transcription
GO	positive regulation of transcription [Amigo]  positive regulation of transcription
GO	metal ion binding [Amigo]  metal ion binding
GO	MyoD binding [Amigo]  MyoD binding
KEGG	Neurodegenerative Disorders
KEGG	Cell cycle
KEGG	Wnt signaling pathway
KEGG	Notch signaling pathway
KEGG	TGF-beta signaling pathway
KEGG	Adherens junction
KEGG	Jak-STAT signaling pathway
KEGG	Long-term potentiation
KEGG	Huntington's disease
PubGene	CREBBP
TreeFam	CREBBP
CTD	1387 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probe	CREBBP Related clones (RZPD - Berlin)
	PubMed
PubMed	351 Pubmed reference(s) in LocusLink

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, Dubˆ© I, Frischauf AM, Horsman D, Mitelman F, Volinia S, Watmore AE, Housman DE

Nature genetics. 1996 ; 14 (1) : 33-41.

PMID 8782817

p300 and CBP as transcriptional regulators and targets of oncogenic events.

Eckner R

Biological chemistry. 1996 ; 377 (11) : 685-688.

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 ; 42 (1) : 96-114.

PMID 9177780

The multifunctional role of the co-activator CBP in transcriptional regulation.

Goldman PS, Tran VK, Goodman RH

Recent progress in hormone research. 1997 ; 52 : 103-119.

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

Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (16) : 8732-8737.

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 ; 89 (11) : 3945-3950.

PMID 9166831

p300 and CBP: partners for life and death.

Giordano A, Avantaggiati ML

Journal of cellular physiology. 1999 ; 181 (2) : 218-230.

PMID 10497301

Developmentally regulated expression of the transcriptional cofactors/histone acetyltransferases CBP and p300 during mouse embryogenesis.

Partanen A, Motoyama J, Hui CC

The International journal of developmental biology. 1999 ; 43 (6) : 487-494.

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 ; 18 (41) : 5714-5717.

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 ; 19 (20) : 2430-2437.

PMID 10828885

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Contributor(s)

Written	07-2000	Jean-Loup Huret

Citation

This paper should be referenced as such :

Huret JL . CREBBP (CREB binding protein (Rubinstein-Taybi syndrome)). Atlas Genet Cytogenet Oncol Haematol. July 2000 . URL : http://AtlasGeneticsOncology.org/Genes/CBPID42.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Jul 2 08:22:31 2008