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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CREBBP Gene

protein-coding GIFtS: 74
GCID: GC16M003775

CREB binding protein

(Previous name: Rubinstein-Taybi syndrome )
(Previous symbol: RSTS)

Explore 96 diseases affiliated with
CREBBP via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
CREB Binding Protein¹ ²		EC 2.3.1.48³ ⁸
CBP¹ ² ³ ⁵		RTS¹
RSTS¹ ² ⁵		Rubinstein-Taybi Syndrome¹
KAT3A¹ ²		CREB-Binding Protein²

External Ids:	HGNC: 2348¹	Entrez Gene: 1387²	Ensembl: ENSG00000005339⁷	OMIM: 600140⁵	UniProtKB: Q92793³

Export aliases for CREBBP gene to outside databases

Previous GC identifers: GC16M003805 GC16M003776 GC16M003716

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CREBBP:

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)

UniProtKB/Swiss-Prot: CBP_HUMAN, Q92793

Function: Acetylates histones, giving a specific tag for transcriptional activation. Also acetylates non-histone

proteins, like NCOA3 and FOXO1. Binds specifically to phosphorylated CREB and enhances its transcriptional activity

toward cAMP-responsive genes. Acts as a coactivator of ALX1 in the presence of EP300

Gene Wiki entry for CREBBP (CREB-binding protein)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010393.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CREBBP gene promoter:
p53 AP-1 AP-2alpha isoform 3 p300 AP-2alpha isoform 2 C/EBPalpha AP-2alpha isoform 4 AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CREBBP promoter sequence

Search SABiosciences Chromatin IP Primers for CREBBP

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CREBBP

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3

CREBBP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CREBBP gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M003775: view genomic region (about GC identifiers)

Start:	3,775,055 bp from pter	End:	3,930,727 bp from pter
Size:	155,673 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CBP_HUMAN, Q92793 (See protein sequence)

Recommended Name: CREB-binding protein

Size: 2442 amino acids; 265351 Da

Subunit: Found in a complex containing NCOA2; NCOA3; IKKA; IKKB and IKBKG. Probably part of a complex with HIF1A and

EP300. Interacts with GATA1; the interaction results in acetylation and enhancement of transcriptional activity of

GATA1. Interacts with MAF AND ZCCHC12. Interacts with DAXX; the interaction is dependent on CBP sumoylation and

results in suppression of the transcriptional activiy via recruitment of HDAC2 to DAAX (By similarity). Interacts with

phosphorylated CREB1. Interacts with CITED4 (C-terminal region). Interacts (via the TAZ-type 1 domain) with HIF1A.

Interacts with SRCAP, CARM1, ELF3, MLLT7/FOXO4, N4BP2, NCOA1, NCOA3, NCOA6, PCAF, DDX5, DDX17, PELP1, PML, SMAD1,

SMAD2, SMAD3, SPIB and TRERF1. Interacts with HTLV-1 Tax and p30II. Interacts with HIV-1 Tat. Interacts with KLF1; the

interaction results in acetylation of KLF1 and enhancement of its transcriptional activity. Interacts with MTDH.

Interacts with NFATC4. Interacts with MAFG; the interaction acetylates MAFG in the basic region and stimulates NFE2

transcriptional activity through increasing its DNA-binding activity. Interacts with IRF2; the interaction acetylates

IRF2 and regulates its activity on the H4 promoter. Interacts (via N-terminus) with SS18L1/CREST (via C-terminus).

Interacts with MECOM. Interacts with CITED1 (via C-terminus). Interacts with FOXO1; the interaction acetylates FOXO1

and inhibits its transcriptional activity

Subcellular location: Cytoplasm. Nucleus. Note=Recruited to nuclear bodies by SS18L1/CREST. In the presence of ALX1

relocalizes from the cytoplasm to the nucleus

Sequence caution: Sequence=BAE06125.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

6/21 PDB 3D structures from and Proteopedia for CREBBP (see all 21):

1JSP (3D)

1LIQ (3D)

1WO3 (3D)

1WO4 (3D)

1WO5 (3D)

1WO6 (3D)

Secondary accessions: D3DUC9 O00147 Q16376 Q4LE28

Alternative splicing: 2 isoforms: Q92793-1 Q92793-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CREBBP: NX_Q92793

Post-translational modifications:

Methylation of the KIX domain by CARM1 blocks association with CREB. This results in the blockade of CREB signaling,

and in activation of apoptotic response (By similarity)¹

Phosphorylated by CHUK/IKKA at Ser-1382 and Ser-1386; these phosphorylations promote cell growth by switching the

binding preference of CREBBP from TP53 to NF-kappa-B¹

Sumoylation negatively regulates transcriptional activity via the recruitment of DAAX (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q92793

2 DME Specific Peptides for CREBBP (Q92793)

LIGYLEY

VYHEILIGYL

CREBBP Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001073315.1 NP_004371.2

ENSEMBL proteins:

ENSP00000262367 ENSP00000371502 ENSP00000460474 ENSP00000461002 ENSP00000459490

ENSP00000458254

Reactome Protein details: Q92793
Human Recombinant Protein Products for CREBBP:

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	Uscn Proteins for CREBBP

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000123	histone acetyltransferase complex	IEA	--
GO:0000790	nuclear chromatin	IDA	--
GO:0000940	condensed chromosome outer kinetochore	IEA	--
GO:0005634	nucleus	IDA	12929931
GO:0005654	nucleoplasm	TAS	--

CREBBP for ontologies About GeneDecksing

CREBBP Antibody Products:

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	Uscn ELISAs and CLIAs for CREBBP

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CREBBP for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR010303 DUF902_CREBbp

IPR009110 Nuc_rcpt_coact

IPR018359 Bromodomain_CS

IPR001487 Bromodomain

IPR003101 KIX_dom

Graphical View of Domain Structure for InterPro Entry Q92793

ProtoNet protein and cluster: Q92793

5 Blocks protein families:

IPB000197 TAZ finger

IPB000433 Zn-finger

IPB001487 Bromodomain signature

IPB003101 Coactivator CBP

IPB009255 Transcriptional coactivation

UniProtKB/Swiss-Prot: CBP_HUMAN, Q92793

Domain: The KIX domain mediates binding to HIV-1 Tat

Similarity: Contains 1 bromo domain

Similarity: Contains 1 KIX domain

Similarity: Contains 2 TAZ-type zinc fingers

Similarity: Contains 1 ZZ-type zinc finger

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CBP_HUMAN, Q92793

Function: Acetylates histones, giving a specific tag for transcriptional activation. Also acetylates non-histone

proteins, like NCOA3 and FOXO1. Binds specifically to phosphorylated CREB and enhances its transcriptional activity

toward cAMP-responsive genes. Acts as a coactivator of ALX1 in the presence of EP300

Catalytic activity: Acetyl-CoA + [histone] = CoA + acetyl-[histone]

Genatlas biochemistry entry for CREBBP:

cyclic-AMP response element binding protein,colocalizing with PML in special (PML/SP100) nuclear bodies

(NB/POD),transcriptional coactivator with EB300 of various nuclear receptors and hypoxia inducible factor 1A

(HIF1A),required for Smad (MADH4) dependent TGFB transcriptional responses in endothelial cells,involved in a variety

of transcriptional pathways through chromatin remodeling,potent histone acetyltransferase,participating in basic

cellular functions,associating to PML which increases its localization in POD (promyelocytic oncoprotein domain) and

acting as a potent nuclear receptor coactivator,playing a pivotal role in embryonic development,fused with ZNF220

(MOZ) in acute myeloid leukemia with translocation t(8;16)(p11;p13),see AML3,and with MLL (HRX) in therapy related

acute leukemia with translocation t(11;16)(q23;p13)

Enzyme Number (IUBMB): EC 2.3.1.48¹ ²

Gene Ontology (GO): 5/21 molecular function terms (GO ID links to tree view) (see all 21): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000987	core promoter proximal region sequence-specific DNA binding	IDA	--
GO:0001078	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription	IDA	--
GO:0001085	RNA polymerase II transcription factor binding	IPI	--
GO:0001102	RNA polymerase II activating transcription factor binding	TAS	11001584
GO:0001105	RNA polymerase II transcription coactivator activity	TAS	11001584

CREBBP for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for CREBBP:

High actin ratio cells

Increased homologous recombina

Upregulation of Wnt/beta-caten

15/21 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Crebbp) (see all 21):

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial
digestive/alimentary	embryogenesis	endocrine/exocrine gland	growth/size	hematopoietic system
homeostasis/metabolism	immune system	integument	limbs/digits/tail	mortality/aging

CREBBP for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for CREBBP: Crebbp^tm1Sis Crebbp^tm1Dli Crebbp^tm1.1Ltz Crebbp^tm2Pkb

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CREBBP

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CREBBP
		8/95 QIAGEN miScript miRNA Assays for microRNAs that regulate CREBBP (see all 95):
		hsa-miR-576-3p hsa-miR-323-3p hsa-miR-582-3p hsa-miR-100* hsa-miR-361-5p hsa-miR-300 hsa-miR-1245 hsa-miR-3074-3p

		SwitchGear 3'UTR luciferase reporter plasmid: CREBBP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CREBBP

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/105 super-pathways (see all 105) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant

8/11 pathways (see all 11)
Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant	1.00	Signaling by NOTCH1	1.00
Signaling by NOTCH1 PEST Domain Mutants in Cancer	1.00	Constitutive Signaling by NOTCH1 PEST Domain Mutants	0.79
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	1.00	Signaling by NOTCH	0.77
Signaling by NOTCH1 in Cancer	1.00	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	0.71

Development_Ligand-dependent activation of the ESR1/AP-1 pathway

	Development_Ligand-dependent activation of the ESR1/AP-1 pathway	1.00			Transcription Ligand-dependent activation of the ESR1/SP pathway	0.37
	Development Ligand-dependent activation of the ESR1/AP-1 pathway	1.00			Transcription_Ligand-dependent activation of the ESR1/SP pathway	0.37

Activation of cAMP-Dependent PKA

	Activation of cAMP-Dependent PKA	1.00			Activation of PKA through GPCR	0.71
	cAMP Pathway	0.77			PKA Signaling	0.56

Immune response_IFN gamma signaling pathway

	Immune response_IFN gamma signaling pathway	1.00			IFN-gamma pathway	0.43
	Immune response IFN gamma signaling pathway	1.00

CREB Pathway

	CREB Pathway	1.00			Intracellular Calcium Signaling	0.50
	IP3 Pathway	0.68

Pathway sources
See GeneCards unified pathways
Show all pathways

5/13 EMD Millipore Pathways for CREBBP (see all 13)

	Development TGF-beta receptor signaling
	Development Ligand-independent activation of ESR1 and ESR2
	Transcription Ligand-dependent activation of the ESR1/SP pathway
	Immune response IFN gamma signaling pathway
	Development Glucocorticoid receptor signaling

5/43 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CREBBP (see all 43)

	Nuclear Receptor Activation by Vitamin-A
	LT-BetaR Pathway
	Molecular Mechanisms of Cancer
	Intracellular Calcium Signaling
	TRKA Signaling

2 Cell Signaling Technology (CST) Pathways for CREBBP

	Chromatin Regulation / Acetylation
	Angiogenesis

5/13 GeneGo (Thomson Reuters) Pathways for CREBBP (see all 13)

	Transcription Ligand-dependent activation of the ESR1/SP pathway
	Signal transduction Activin A signaling regulation
	Transcription P53 signaling pathway
	Transcription Ligand-Dependent Transcription of Retinoid-Target genes
	Development Ligand-dependent activation of the ESR1/AP-1 pathway

5/37 BioSystems Pathways for CREBBP (see all 37)

	Angiogenesis
	TGF Beta Signaling Pathway
	Wnt Signaling Pathway and Pluripotency
	Notch Signaling Pathway
	Hedgehog Signaling Pathway

5/33 Reactome Pathways for CREBBP (see all 33)

	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
	NOTCH1 Intracellular Domain Regulates Transcription
	Transcriptional Regulation of White Adipocyte Differentiation
	FBXW7 Mutants and NOTCH1 in Cancer
	Formation of HIF:CBP:p300 Complex at Promoters

1 PharmGKB Pathway for CREBBP

Glucocorticoid Pathway (Peripheral Tissue), Pharmacodynamics

5/14 Kegg Pathways (Kegg details for CREBBP) (see all 14):

	Cell cycle
	Wnt signaling pathway
	Notch signaling pathway
	TGF-beta signaling pathway
	Adherens junction

CREBBP for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CREBBP

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/576 Interacting proteins for CREBBP (Q92793^{1, 2, 3} ENSP00000262367⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 576)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³, ENSP00000352980⁴	I2D: score=2 STRING: ENSP00000352980
HIST1H4L	P62805³, ENSP00000348258⁴	I2D: score=2 STRING: ENSP00000348258
HIST4H4	P62805³, ENSP00000350767⁴	I2D: score=2 STRING: ENSP00000350767
HIST1H4B	P62805³	I2D: score=2
HIST1H4C	P62805³	I2D: score=2

About this table

Gene Ontology (GO): 5/27 biological process terms (GO ID links to tree view) (see all 27): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	--
GO:0001666	response to hypoxia	TAS	15261140
GO:0006351	transcription, DNA-dependent	--	--
GO:0006355	regulation of transcription, DNA-dependent	TAS	15261140
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	--

CREBBP for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CREBBP for compounds About GeneDecksing

EMD Millipore small molecules for CREBBP:
Small Molecule - inhibitor

Enzo Life Sciences drugs & compounds for CREBBP

Browse Tocris compounds for CREBBP

1 HMDB Compound for CREBBP About this table

Compound	Synonyms	CAS #	PubMed Ids
Cyclic AMP	Cyclic AMP (see all 19)	60-92-4	--

1 DrugBank Compound for CREBBP About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE	--	--	target	--	10592235

10/75 Novoseek chemical compound relationships for CREBBP gene (see all 75) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dcbp	83	6	14550792 (1), 10774723 (1), 11701926 (1), 12815067 (1) (see all 5)
cyclic amp	67.3	58	9829969 (3), 10687851 (2), 9751061 (2), 8114764 (1) (see all 37)
steroid	54.1	63	17947358 (2), 11358671 (2), 10558993 (1), 11463834 (1) (see all 47)
lysine	49.9	22	16287980 (2), 20006587 (2), 11498590 (1), 14560007 (1) (see all 15)
retinoic acid	49.7	44	9886825 (4), 14535629 (3), 19416972 (2), 10780452 (2) (see all 21)
estrogen	45.3	30	14766010 (2), 17932106 (2), 15857748 (2), 17400812 (2) (see all 18)
hydroxyflutamide	37.1	4	12507906 (3), 15663989 (1)
retinoid	36.7	8	17641689 (1), 15731352 (1), 9056670 (1), 10598585 (1) (see all 8)
4-hydroxytamoxifen	33.6	1	16840538 (1)
forskolin	30	9	19416972 (2), 15299023 (2), 14645671 (1), 16528103 (1) (see all 5)

Search CenterWatch for drugs/clinical trials and news about CREBBP / CBP

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CREBBP gene (2 alternative transcripts):

NM_001079846.1 NM_004380.2

Unigene Cluster for CREBBP:

CREB binding protein

Hs.459759 [show with all ESTs]

Unigene Representative Sequence: NM_004380

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000262367(uc002cvv.3 uc002cvw.3) ENST00000382070 ENST00000571763

ENST00000576720 ENST00000574740 ENST00000573517 ENST00000570939 ENST00000572569

ENST00000573672 ENST00000571826 ENST00000572134 ENST00000575237

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CREBBP Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CREBBP
		8/95 QIAGEN miScript miRNA Assays for microRNAs that regulate CREBBP (see all 95):
		hsa-miR-576-3p hsa-miR-323-3p hsa-miR-582-3p hsa-miR-100* hsa-miR-361-5p hsa-miR-300 hsa-miR-1245 hsa-miR-3074-3p

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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CREBBP (see all 7) OriGene shRNA RFP: CREBBP OriGene siRNA: CREBBP
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Additional cDNA sequence:

AB210043.1 AK124320.1 AK304771.1 BC036486.1 U47741.1 U85962.3 U89354.1 U89355.1

24/25 DOTS entries (see all 25):

DT.91987979 DT.95196266 DT.87015237 DT.312120 DT.95374619 DT.75194359 DT.91725766 DT.91754342

DT.92438920 DT.100739782 DT.92024894 DT.75110120 DT.95354879 DT.91686506 DT.92438923 DT.92438924

DT.95097761 DT.99985557 DT.100733959 DT.120711680 DT.121487347 DT.86851948 DT.92025346 DT.99940938

24/380 AceView cDNA sequences (see all 380):

AA908664 BX486935 Z41163 H19915 BI058800 BX491321 CA843501 AI669566

BM129816 AI937789 BE247065 AI240560 CA433260 BM844017 BM129644 BF115577

BQ948066 BE552038 BF514806 AI126992 AK124320 BQ014096 BF438316 AA233875

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CREBBP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAAGCGCTCT

About this image

CREBBP expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Antral Follicle

Secondary Oocyte

Female Gametocytes, Germ Cells

Reproductive System

Early Gonad

Testis Somatic Cells

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CREBBP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CREBBP

SOURCE GeneReport for Unigene cluster: Hs.459759

SABiosciences Expression via Pathway-Focused PCR Arrays including CREBBP (see all 12):

HIV Host Response in human mouse rat

Epigenetic Chromatin Modification Enzymes in human mouse rat

Stem Cell Signaling in human mouse rat

Nuclear Receptors & Coregulators in human mouse rat

Notch Signaling Targets in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for CREBBP gene from 9/26 species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Crebbp^{1 , 5}	CREB binding protein^{1, 5}	89.7(n)¹ 96.02(a)¹		16 (2.40 cM)⁵ 12914¹ NM_001025432.1¹ NP_001020603.1¹ 4084048⁵
chicken (Gallus gallus)	Aves	CREBBP¹	CREB binding protein	81.83(n) 89.54(a)		416667 XM_414964.2 XP_414964.2
lizard (Anolis carolinensis)	Reptilia	CREBBP⁶	--	73(a)	1 ↔ 1	GL343507.1(483546-509528)
African clawed frog (Xenopus laevis)	Amphibia	crebbp-A²	CREB binding protein (Rubinstein-Taybi syndrome)	74.9(n)		BC044677.1
zebrafish (Danio rerio)	Actinopterygii	Dr.10005²	Transcribed sequence with moderate similarity to protein more	81.78(n)		57096562
fruit fly (Drosophila melanogaster)	Insecta	nej³	synaptic vesicle transport transcription co-activator	67(a)		--
worm (Caenorhabditis elegans)	Secernentea	F40F12.7³	--	63(a)		III(9986290-9987354) --
thale cress (Arabidopsis thaliana)	eudicotyledons	HAC04⁶ HAC5⁶ (see all 5)	histone acetyltransferase HAC5 (see all 5)	18(a) 18(a) (see all 5)	many ↔ many many ↔ many (see all 5)	1(20932129-20938290) 3(4146499-4154895)
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	histone acetyltransferase HAC5, putative, expresse... histone acetyltransferase HAC1, putative, expresse... (see all 3)	18(a) 17(a) (see all 3)	many ↔ many many ↔ many (see all 3)	1(8046368-8054694) 2(1986422-1997362)

ENSEMBL Gene Tree for CREBBP (if available)
TreeFam Gene Tree for CREBBP (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CREBBP gene

BRDT² BRD4² BRD2² EP300² BRD3²

8 SIMAP similar genes for CREBBP using alignment to 47 protein entries: CBP_HUMAN (see all proteins):

CBP/MORF CBP/MOZ MOZ/CBP CREB-binding protein MORF/CBP CBP

EP300 BRDT

CREBBP for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28937315^1,2	C	pathogenic	3776746(-)	`AGTCTA/GTAAGT`	4	Y C	mis¹ ese³		2		NA	4
rs62037852^1,2		--	3743711(+)	`GCAACT/CTCCGC`	2	--	ds500¹		1		NA	2
rs76100714^1,2		--	3744917(+)	`AACTTC/GTCTCA`	2	--	ut3¹		0	--	--	--	--
rs3179351^1,2	C,F,A	--	3745110(+)	`AGGATT/GTGGGG`	2	--	ut3¹		8		NA WA CSA EA	249
rs2286005^1,2	H	--	3745186(-)	`CTCCCC/ACCCCC`	2	--	ut3¹		2		EA NS	1412
rs3179352^1,2	F	--	3745246(+)	`GGACAG/AGGAGG`	2	--	ut3¹		1		WA	118
rs78989292^1,2		--	3745455(+)	`AGCCCC/TAGCCT`	2	--	ut3¹		1		NA	120
rs62636220^1,2	C,F	--	3747365(+)	`TGCTGT/CTGCTG`	4	/Q	syn¹		2		NS NA	4172
rs78629035^1,2	C	--	3747696(+)	`GCGGGG/TTTGAT`	4	N T	mis¹		0	--	--	--	--
rs77313528^1,2		--	3748979(+)	`AGCACA/GGACAA`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CREBBP (3775055 - 3930727 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for CREBBP
5 CNVs: 72432 72430 72428 72433 72431
2 Indels: 61490 40129
Human Gene Mutation Database (HGMD): CREBBP

Locus Specific Mutation Databases (LSDB): CREBBP

5/8 SABiosciences Cancer Mutation PCR Assays for CREBBP (see all 8):

Cosmic Id	AA Change
88749	p.R1446C
96443	p.Q1500P
88738	p.R1446L
96444	p.S1887*
88748	p.R1446H

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CREBBP for disorders           About GeneDecksing

OMIM gene information: 600140
OMIM disorders: 180849
UniProtKB/Swiss-Prot: CBP_HUMAN, Q92793

Note=Chromosomal aberrations involving CREBBP may be a cause of acute myeloid leukemias. Translocation

t(8;16)(p11;p13) with KAT6A; translocation t(11;16)(q23;p13.3) with MLL/HRX; translocation t(10;16)(q22;p13) with

KAT6B. KAT6A-CREBBP may induce leukemia by inhibiting RUNX1-mediated transcription

Defects in CREBBP are a cause of Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849]. RSTS1 is an autosomal

dominant disorder characterized by craniofacial abnormalities, broad thumbs, broad big toes, mental retardation and a

propensity for development of malignancies

20/96 diseases for CREBBP (see all 96): About MalaCards

rubinstein-taybi syndrome acute myeloid leukemia myeloid leukemia alpha-thalassemia/mental retardation syndrome

machado-joseph disease rubenstein-taybi syndrome leukemia beckwith-wiedemann syndrome

human t-cell leukemia virus type 1 alpha thalassemia amyotrophic lateral sclerosis developmental disabilities

short stature craniofacial abnormalities acute monocytic leukemia mental retardation syndrome

motor neuronopathy dengue hemorrhagic fever epidermal nevus monocytic leukemia

4 diseases from the University of Copenhagen DISEASES database for CREBBP:

Rubinstein-Taybi syndrome Intellectual disability Huntington's disease Leukemia

10/65 Novoseek disease relationships for CREBBP gene (see all 65) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
rubinstein-taybi syndrome	93.4	45	17473832 (2), 9294190 (2), 11331617 (2), 17855048 (2) (see all 33)
leukemia t-cell	64.2	8	9447968 (1), 11279015 (1), 9528808 (1), 11097423 (1) (see all 8)
promyelocytic leukemia	60.9	10	11238464 (2), 10893273 (1), 17060459 (1), 15833741 (1) (see all 8)
leukemogenesis	60.1	9	12619166 (1), 15312679 (1), 9238046 (1), 10706136 (1) (see all 9)
mental retardation	50.2	8	17299436 (1), 15452871 (1), 12930888 (1), 19489441 (1) (see all 5)
acute monocytic leukemia	48.2	1	9731070 (1)
huntington disease	44	3	11264541 (1), 16786226 (1), 15313413 (1)
anomaly congenital multiple	37.6	1	11207968 (1)
growth retardation	35.9	5	10746038 (1), 18792986 (1), 12566391 (1)
leukemia myelomonocytic acute	35.8	1	9226152 (1)

GeneTests: CREBBP

Rubinstein-Taybi Syndrome

Genetic Association Database (GAD): CREBBP
Human Genome Epidemiology (HuGE) Navigator: CREBBP (16 documents)

Export disorders for CREBBP gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CREBBP gene, integrated from 9 sources (see all 1096):
(articles sorted by number of sources associating them with CREBBP)

Utopia: connect your pdf to the dynamic
world of online information

Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13). (PubMed id 11157802)^{1, 2, 9} Panagopoulos I.... Johansson B. (2001)
Phosphorylation of CBP by IKKalpha promotes cell growth by switching the binding preference of CBP from p53 to NF-kappaB. (PubMed id 17434128)^{1, 2, 9} Huang W.C....Chen C.C. (2007)
Interaction between the hematopoietic Ets transcription factor Spi-B and the coactivator CREB-binding protein associated with negative cross-talk with c-Myb. (PubMed id 11864910)^{1, 2, 9} Yamamoto H....Oikawa T. (2002)
Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. (PubMed id 12566391)^{1, 2, 9} Kalkhoven E.... Peters D.J.M. (2003)
Requirement of two NFATc4 transactivation domains for CBP potentiation. (PubMed id 11514544)^{1, 2, 9} Yang T.T.C.... Chow C.-W. (2001)
Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome. (PubMed id 11331617)^{1, 2, 9} Murata T....Hayashi Y. (2001)
Differential transcriptional activation by human T-cell leukemia virus type 1 Tax mutants is mediated by distinct interactions with CREB binding protein and p300. (PubMed id 9528808)^{1, 2, 9} Bex F.... Gaynor R.B. (1998)
Positive and negative modulation of the transcriptional activity of the ETS factor ESE-1 through interaction with p300, CREB-binding protein, and Ku 70/86. (PubMed id 15075319)^{1, 2, 9} Wang H.... Oettgen P. (2004)
Identification of a novel SNF2/SWI2 protein family member, SRCAP, which interacts with CREB-binding protein. (PubMed id 10347196)^{1, 2, 9} Johnston H.... Chrivia J. (1999)
An essential role for p300/CBP in the cellular response to hypoxia. (PubMed id 8917528)^{1, 2, 9} Arany Z.... Livingston D.M. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1387	HGNC: 2348	AceView: CREBBP	Ensembl:ENSG00000005339	euGenes: HUgn1387
ECgene: CREBBP	Kegg: 1387	H-InvDB: CREBBP

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CREBBP	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CREBBP	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CREBBP
Wikipedia	http://en.wikipedia.org/wiki/P300/CBP

Intellectual Property for CREBBP gene
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Patent Information for CREBBP gene:
Search GeneIP for patents involving CREBBP

GeneCards and IP:
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for CREBBP gene

Paralogs
for CREBBP gene

Genomic Variants
for CREBBP gene

Disorders / Diseases
for CREBBP gene

Publications
for CREBBP gene

Intellectual Property
for CREBBP gene

Products
for CREBBP gene