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CREBBP Gene

protein-coding   GIFtS: 74
GCID: GC16M003775

CREB Binding Protein

(Previous name: Rubinstein-Taybi syndrome)
(Previous symbol: RSTS)
Microbiology & Infectious Diseases Congress
  See related diseases
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
CREB Binding Protein1 2     Rubinstein-Taybi Syndrome1
RSTS1 2 5     KAT3A2
CBP2 3 5     CREB-Binding Protein2
EC 2.3.1.483 8     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CREBBP Gene:
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)

GeneCards Summary for CREBBP Gene:
CREBBP (CREB binding protein) is a protein-coding gene. Diseases associated with CREBBP include crebbp-related rubinstein-taybi syndrome, and rubinstein-taybi syndrome. GO annotations related to this gene include transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is BRDT.

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) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NT_010393.17  NC_018927.2  
Regulatory elements:
   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 plasmidCREBBP promoter sequence
   Search Chromatin IP Primers for CREBBP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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 activity via recruitment of HDAC2 to DAXX (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. Interacts with human herpes virus 8/HHV-8 protein vIRF-1; this interaction inhibits CREBBP binding to
IRF3
Sequence caution: Sequence=BAE06125.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Selected PDB 3D structures from and Proteopedia for CREBBP (see all 32):
1JSP (3D)        1LIQ (3D)        1RDT (3D)        1WO3 (3D)        1WO4 (3D)        1WO5 (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

Explore proteomics data for CREBBP at MOPED

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
  • Ubiquitination2 at Lys2102
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for CREBBP (Q92793)
     LIGYLEY  VYHEILIGYL 


    See CREBBP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001073315.1  NP_004371.2  

    ENSEMBL proteins: 
     ENSP00000262367   ENSP00000371502   ENSP00000460474   ENSP00000461002   ENSP00000459490  
     ENSP00000458254  
    Reactome Protein details: Q92793

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    Novus Biologicals CREBBP Protein
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    Cloud-Clone Corp. Proteins for CREBBP

    CREBBP Antibody Products:

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    LSBio Antibodies in human, mouse, rat for CREBBP

    CREBBP Assay Products:

    EMD Millipore Kits and Assays for the Analysis of CREBBP
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    Cloud-Clone Corp. ELISAs for CREBBP
    Cloud-Clone Corp. CLIAs for CREBBP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KAT: Chromatin-modifying enzymes / K-acetyltransferases

    Selected InterPro protein domains (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 domains:
    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


    CREBBP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000987core promoter proximal region sequence-specific DNA binding IDA--
    GO:0001078RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA--
    GO:0001085RNA polymerase II transcription factor binding IPI--
    GO:0001102RNA polymerase II activating transcription factor binding TAS11001584
    GO:0001105RNA polymerase II transcription coactivator activity TAS11001584
         
    CREBBP for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for CREBBP:
     High actin ratio cells  Increased homologous recombina  Upregulation of Wnt/beta-caten 

         Selected 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/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  mortality/aging 

    CREBBP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CREBBP: Crebbptm1Sis Crebbptm1Dli Crebbptm1.1Ltz Crebbptm2Pkb

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CREBBP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CREBBP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CREBBP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CREBBP

    miRNA
    Products:
        
    miRTarBase miRNAs that target CREBBP:
    hsa-mir-100-5p (MIRT048558), hsa-mir-935 (MIRT036676), hsa-let-7e-5p (MIRT051673), hsa-mir-125b-5p (MIRT045961), hsa-mir-769-5p (MIRT039168), hsa-mir-1301-3p (MIRT035967), hsa-mir-324-3p (MIRT004683)

    Block miRNA regulation of human, mouse, rat CREBBP using miScript Target Protectors
    Selected qRT-PCR 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 plasmidCREBBP 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CREBBP
    Predesigned siRNA for gene silencing in human, mouse, rat CREBBP

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CREBBP

    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CREBBP (NM_004380)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CREBBP
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CREBBP

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CREBBP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CBP_HUMAN, Q92793: Cytoplasm. Nucleus. Note=Recruited to nuclear bodies by SS18L1/CREST. In the presence of
    ALX1 relocalizes from the cytoplasm to the nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000123histone acetyltransferase complex IEA--
    GO:0000790nuclear chromatin IDA--
    GO:0000940condensed chromosome outer kinetochore IEA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--

    CREBBP for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CREBBP About   (see all 118)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Notch signaling pathway (KEGG)
    Notch signaling pathway0.84
    Notch Signaling Pathway0.84
    2Immune response IFN gamma signaling pathway
    IFN-gamma pathway0.43
    Immune response IFN gamma signaling pathway0.43
    3Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants0.79
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH1 in Cancer0.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    Signaling by NOTCH10.79
    NOTCH1 Intracellular Domain Regulates Transcription0.68
    4Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    Transcriptional Regulation of White Adipocyte Differentiation0.38
    5Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for CREBBP
        Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    Selected 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

    Selected BioSystems Pathways for CREBBP (see all 36)
        Angiogenesis
    TGF Beta Signaling Pathway
    Wnt Signaling Pathway and Pluripotency
    Hedgehog Signaling Pathway
    SIDS Susceptibility Pathways

    Selected Reactome Pathways for CREBBP (see all 23)
        NOTCH1 Intracellular Domain Regulates Transcription
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
    Transcriptional regulation of white adipocyte differentiation
    HATs acetylate histones
    LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production

    1 PharmGKB Pathway for CREBBP
        Glucocorticoid Pathway (Peripheral Tissue), Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for CREBBP) (see all 23):
        HIF-1 signaling pathway
    FoxO signaling pathway
    Cell cycle
    Wnt signaling pathway
    Notch signaling pathway


    CREBBP for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for CREBBP

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

    Selected Interacting proteins for CREBBP (Q927931, 2, 3 ENSP000002623674) via UniProtKB, MINT, STRING, and/or I2D (see all 641)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=2 STRING: ENSP00000352980
    HIST1H4LP628053, ENSP000003482584I2D: score=2 STRING: ENSP00000348258
    HIST4H4P628053, ENSP000003507674I2D: score=2 STRING: ENSP00000350767
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA--
    GO:0001666response to hypoxia TAS15261140
    GO:0006325chromatin organization TAS--
    GO:0006355regulation of transcription, DNA-templated TAS15261140
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--

    CREBBP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for CREBBP
      Browse compounds at ApexBio 

    Browse Tocris compounds for CREBBP (CBP)

    1 HMDB Compound for CREBBP    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    1 DrugBank Compound for CREBBP    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE-- --target--10592235

    Selected Novoseek inferred 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)



    CREBBP for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Selected qRT-PCR 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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    GenScript: all cDNA clones in your preferred vector (see all 2): CREBBP (NM_004380)
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      QuantiTect SYBR Green Assays in human, mouse, rat CREBBP
      QuantiFast Probe-based Assays in human, mouse, rat CREBBP

    Additional mRNA sequence: 

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

    Selected 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 

    Selected AceView cDNA sequences (see all 380):

    AA233875 BU687259 BI058800 AI359766 BM129508 Z41163 AI657021 BM129644 
    AI051629 BF115361 BM905201 AK124320 CA843501 AI240560 AW514183 BQ029925 
    AA908664 BQ003528 CA843751 H88363 W72543 AW369376 BQ882270 CD679501 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CREBBP expression in normal human tissues (normalized intensities)      CREBBP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAGCGCTCT
    CREBBP Expression
    About this image


    CREBBP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 3 entries
             Secondary Oocyte Antral Follicle
             Oviduct
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
     
     Gonad (Reproductive System)    fully expand to see all 2 entries
             Testis Somatic Cells Primitive Gonad
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    CREBBP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CREBBP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.459759
        Pathway & Disease-focused RT2 Profiler 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

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CREBBP

    (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

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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CREBBP gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Crebbp1 , 5 CREB binding protein1, 5 89.65(n)1
    95.9(a)1
      16 (2.40 cM)5
    129141  NM_001025432.11  NP_001020603.11 
     40840485 
    chicken
    (Gallus gallus)
    Aves CREBBP1 CREB binding protein 81.69(n)
    89.43(a)
      416667  XM_004945389.1  XP_004945446.1 
    lizard
    (Anolis carolinensis)
    Reptilia CREBBP6
    CREB binding protein
    74(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)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BDF26
    BDF16
    Protein involved in transcription initiation at TA...
    Protein involved in transcription initiation at TA...
    24(a)
    22(a)
    many ↔ many
    many ↔ many
    IV(331024-332940) YDL070W
    XII(919536-921596) YLR399C


    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)
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    Paralogs for CREBBP gene
    BRDT2  BRD42  BRD22  EP3002  BRD32  
    9 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    BRD4

    CREBBP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CREBBP (see all 3670)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289373151,2,,4
    CRubinstein-Taybi syndrome 1 (RSTS1)4 pathogenic13743774(-) AGTCTA/GTAAGT 4 Y C mis1 ese30--------
    VAR_0155784
    Rubinstein-Taybi syndrome 1 (RSTS1)4--see VAR_0155782 R P mis40--------
    VAR_0350804
    Rubinstein-Taybi syndrome 1 (RSTS1)4--see VAR_0350802 E K mis40--------
    VAR_0350844
    Rubinstein-Taybi syndrome 1 (RSTS1)4--see VAR_0350842 R H mis40--------
    VAR_0350824
    Rubinstein-Taybi syndrome 1 (RSTS1)4--see VAR_0350822 Y H mis40--------
    VAR_0350814
    Rubinstein-Taybi syndrome 1 (RSTS1)4--see VAR_0350812 T I mis40--------
    VAR_0350834
    Rubinstein-Taybi syndrome 1 (RSTS1)4--see VAR_0350832 H R mis40--------
    rs1468719831,2
    --3710519(+) CTGCCC/TGCCTC 2 -- ds50010--------
    rs1407486211,2
    --3710646(+) ATCCCA/GGCTCA 2 -- ds50010--------
    rs620378521,2
    F--3710659(+) GCAACT/CTCCGC 2 -- ds50011Minor allele frequency- C:0.00NA 2

    HapMap Linkage Disequilibrium report for CREBBP (3775055 - 3930727 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CREBBP:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2750419CNV Deletion23290073
    esv2656605CNV Deletion23128226
    esv9178CNV Loss19470904
    nsv833129CNV Loss17160897
    nsv833130CNV Gain17160897
    nsv827526CNV Gain20364138
    esv21490CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): CREBBP
    Locus Specific Mutation Databases (LSDB): CREBBP

    Selected Site Specific Mutation Identification with PCR Assays for CREBBP (see all 8):
    Cosmic IdAA Change
    88749p.R1446C
    96443p.Q1500P
    88738p.R1446L
    96444p.S1887*
    88748p.R1446H
    SeqTarget long-range PCR primers for resequencing CREBBP
    DNA2.0 Custom Variant and Variant Library Synthesis for CREBBP

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

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    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 KMT2A/MLL1; translocation t(10;16)(q22;p13)
    with KAT6B. KAT6A-CREBBP may induce leukemia by inhibiting RUNX1-mediated transcription
  • Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]: A disorder characterized by craniofacial abnormalities,
    postnatal growth deficiency, broad thumbs, broad big toes, mental retardation and a propensity for development of
    malignancies. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for CREBBP (see all 102):    About MalaCards
    crebbp-related rubinstein-taybi syndrome    rubinstein-taybi syndrome    rubinstein-taybi syndrome due to 16p13.3 microdeletion    neonatal leukemia
    acute myeloid leukemia with t(8;16)(p11;p13) translocation    floating-harbor syndrome    alpha-thalassemia/mental retardation syndrome    retroperitoneal sarcoma
    acute monocytic leukemia    melanoma of soft part    myeloid leukemia    epidermal nevus
    monocytic leukemia    alpha thalassemia    machado-joseph disease    meningoencephalitis
    acute myeloid leukemia    chronic myelomonocytic leukemia    thalassemia    motor neuron disease

    4 diseases from the University of Copenhagen DISEASES database for CREBBP:
    Rubinstein-Taybi syndrome     Intellectual disability     Huntington's disease     Leukemia

    CREBBP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred 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
    GeneReviews: CREBBP
    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)
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    PubMed articles for CREBBP gene, integrated from 10 sources (see all 1136):
    (articles sorted by number of sources associating them with CREBBP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Hum. Mol. Genet. 2001)
    2. 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. (Mol. Cell 2007)
    3. 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. (Cell Growth Differ. 2002)
    4. 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. (Hum. Mol. Genet. 2003)
    5. Requirement of two NFATc4 transactivation domains for CBP potentiation. (PubMed id 11514544)1, 2, 9 Yang T.T.C.... Chow C.-W. (J. Biol. Chem. 2001)
    6. 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. (Hum. Mol. Genet. 2001)
    7. 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. (Mol. Cell. Biol. 1998)
    8. 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. (J. Biol. Chem. 2004)
    9. 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. (J. Biol. Chem. 1999)
    10. An essential role for p300/CBP in the cellular response to hypoxia. (PubMed id 8917528)1, 2, 9 Arany Z.... Livingston D.M. (Proc. Natl. Acad. Sci. U.S.A. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    Entrez Gene: 1387 HGNC: 2348 AceView: CREBBP Ensembl:ENSG00000005339 euGenes: HUgn1387
    ECgene: CREBBP Kegg: 1387 H-InvDB: CREBBP

    (According to HUGE)
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      --

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

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    NameDescription
    PharmGKB entry for CREBBP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CREBBP Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CREBBP[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/P300/CBP

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CREBBP gene:
    Search GeneIP for patents involving CREBBP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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