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Aliases for CREBBP Gene

Aliases for CREBBP Gene

  • CREB Binding Protein 2 3 5
  • EC 2.3.1.48 4 61
  • CBP 3 4
  • Rubinstein-Taybi Syndrome 2
  • CREB-Binding Protein 3
  • KAT3A 3
  • RSTS 3

External Ids for CREBBP Gene

Previous HGNC Symbols for CREBBP Gene

  • RSTS

Previous GeneCards Identifiers for CREBBP Gene

  • GC16M003805
  • GC16M003776
  • GC16M003716
  • GC16M003775

Summaries for CREBBP Gene

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 Rubinstein-Taybi Syndrome and Acute Myeloid Leukemia With T(8;16)(P11;P13) Translocation. Among its related pathways are HIF Repressor Pathways and NFAT and Cardiac Hypertrophy. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is MIR1281.

UniProtKB/Swiss-Prot for CREBBP Gene

  • 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. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers. Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902).

Tocris Summary for CREBBP Gene

  • Bromodomains (BRDs) are epigenetic reader domains that selectively recognize acetylated lysine residues on the tails of histone proteins, and are the only known protein modules that can target acetylated lysine residues.

Gene Wiki entry for CREBBP Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CREBBP Gene

Genomics for CREBBP Gene

Regulatory Elements for CREBBP Gene

Enhancers for CREBBP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around CREBBP on UCSC Golden Path with GeneCards custom track

Promoters for CREBBP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for CREBBP Gene

Chromosome:
16
Start:
3,725,054 bp from pter
End:
3,880,726 bp from pter
Size:
155,673 bases
Orientation:
Minus strand

Genomic View for CREBBP Gene

Genes around CREBBP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CREBBP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CREBBP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CREBBP Gene

Proteins for CREBBP Gene

  • Protein details for CREBBP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92793-CBP_HUMAN
    Recommended name:
    CREB-binding protein
    Protein Accession:
    Q92793
    Secondary Accessions:
    • D3DUC9
    • O00147
    • Q16376
    • Q4LE28

    Protein attributes for CREBBP Gene

    Size:
    2442 amino acids
    Molecular mass:
    265351 Da
    Quaternary structure:
    • 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. Interacts with NPAS2, CLOCK and ARNTL/BMAL1. Interacts with ASF1A and ASF1B; this promotes histone acetylation. Interacts with acetylated TP53/p53 and with the acetylated histones H3 and H4. Interacts (via transactivation domain and C-terminus) with PCNA; the interaction occurs on chromatin in UV-irradiated damaged cells (PubMed:24939902).
    SequenceCaution:
    • Sequence=BAE06125.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CREBBP Gene

    Alternative splice isoforms for CREBBP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CREBBP Gene

Selected DME Specific Peptides for CREBBP Gene

Post-translational modifications for CREBBP Gene

  • Autoacetylation is required for binding to protein substrates, such as acetylated histones and acetylated TP53/p53.
  • 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).
  • 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-B.
  • Sumoylation negatively regulates transcriptional activity via the recruitment of DAAX.
  • Ubiquitination at Lys 2102
  • Modification sites at PhosphoSitePlus

Domains & Families for CREBBP Gene

Gene Families for CREBBP Gene

Suggested Antigen Peptide Sequences for CREBBP Gene

Graphical View of Domain Structure for InterPro Entry

Q92793

UniProtKB/Swiss-Prot:

CBP_HUMAN :
  • The KIX domain mediates binding to HIV-1 Tat.
  • Contains 2 TAZ-type zinc fingers.
Domain:
  • The KIX domain mediates binding to HIV-1 Tat.
  • Contains 1 bromo domain.
  • Contains 1 CBP/p300-type HAT (histone acetyltransferase) domain.
  • Contains 1 KIX domain.
Similarity:
  • Contains 2 TAZ-type zinc fingers.
  • Contains 1 ZZ-type zinc finger.
genes like me logo Genes that share domains with CREBBP: view

Function for CREBBP Gene

Molecular function for CREBBP Gene

GENATLAS Biochemistry:
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)
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + [histone] = CoA + acetyl-[histone].
UniProtKB/Swiss-Prot 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. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers. Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902).

Enzyme Numbers (IUBMB) for CREBBP Gene

Gene Ontology (GO) - Molecular Function for CREBBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000987 core promoter proximal region sequence-specific DNA binding IDA 21539536
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 21539536
GO:0001085 RNA polymerase II transcription factor binding IPI 21539536
GO:0001102 RNA polymerase II activating transcription factor binding TAS 11001584
GO:0001105 RNA polymerase II transcription coactivator activity TAS 11001584
genes like me logo Genes that share ontologies with CREBBP: view
genes like me logo Genes that share phenotypes with CREBBP: view

Human Phenotype Ontology for CREBBP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CREBBP Gene

MGI Knock Outs for CREBBP:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CREBBP Gene

Localization for CREBBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CREBBP Gene

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
Jensen Localization Image for CREBBP Gene COMPARTMENTS Subcellular localization image for CREBBP gene
Compartment Confidence
nucleus 5
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CREBBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IEA --
GO:0000790 nuclear chromatin IDA 21539536
GO:0005634 nucleus IDA 12929931
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with CREBBP: view

Pathways & Interactions for CREBBP Gene

genes like me logo Genes that share pathways with CREBBP: view

Pathways by source for CREBBP Gene

SIGNOR curated interactions for CREBBP Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CREBBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 21539536
GO:0001666 response to hypoxia TAS 15261140
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0006355 regulation of transcription, DNA-templated TAS 15261140
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with CREBBP: view

Drugs & Compounds for CREBBP Gene

(57) Drugs for CREBBP Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE Experimental Pharma Target 0
MOCETINOSTAT Pharma 18
Garcinol Pharma PCAF/p300 inhibitor; anticancer 0
I-CBP 112 Pharma CBP/EP300 bromodomain inhibitor, Selective CBP/p300 BRD inhibitor 0

(28) Additional Compounds for CREBBP Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9

(4) ApexBio Compounds for CREBBP Gene

Compound Action Cas Number
Garcinol 78824-30-3
I-CBP 112 CBP/EP300 bromodomain inhibitor
L002 321695-57-2
SGC-CBP30 Inhibitor of CREBBP/EP300 bromodomain,potent 1613695-14-9
genes like me logo Genes that share compounds with CREBBP: view

Drug Products

Transcripts for CREBBP Gene

Unigene Clusters for CREBBP Gene

CREB binding protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CREBBP Gene

No ASD Table

Relevant External Links for CREBBP Gene

GeneLoc Exon Structure for
CREBBP
ECgene alternative splicing isoforms for
CREBBP

Expression for CREBBP Gene

mRNA expression in normal human tissues for CREBBP Gene

Protein differential expression in normal tissues from HIPED for CREBBP Gene

This gene is overexpressed in Adrenal (17.1), Monocytes (8.2), and Peripheral blood mononuclear cells (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CREBBP Gene



Protein tissue co-expression partners for CREBBP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CREBBP Gene:

CREBBP

SOURCE GeneReport for Unigene cluster for CREBBP Gene:

Hs.459759
genes like me logo Genes that share expression patterns with CREBBP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CREBBP Gene

Orthologs for CREBBP Gene

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

Orthologs for CREBBP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CREBBP 34
  • 90.23 (n)
  • 94.98 (a)
CREBBP 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CREBBP 34
  • 91.25 (n)
  • 95.28 (a)
CREBBP 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Crebbp 34
  • 89.65 (n)
  • 95.9 (a)
Crebbp 16
Crebbp 35
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CREBBP 34
  • 99.78 (n)
  • 99.96 (a)
CREBBP 35
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Crebbp 34
  • 89.93 (n)
  • 95.78 (a)
oppossum
(Monodelphis domestica)
Mammalia CREBBP 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CREBBP 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves CREBBP 34
  • 81.69 (n)
  • 89.43 (a)
CREBBP 35
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CREBBP 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia crebbp 34
  • 71.82 (n)
  • 77.31 (a)
Str.16673 34
African clawed frog
(Xenopus laevis)
Amphibia crebbp-A 34
zebrafish
(Danio rerio)
Actinopterygii Dr.10005 34
LOC101884291 34
  • 72.42 (n)
  • 78.64 (a)
CREBBP (1 of 3) 35
  • 68 (a)
OneToMany
crebbpa 35
  • 66 (a)
OneToMany
crebbpb 35
  • 66 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta nej 36
  • 67 (a)
CG13597 35
  • 23 (a)
ManyToMany
CG30417 35
  • 35 (a)
ManyToMany
CG7229 35
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F40F12.7 36
  • 63 (a)
C29F9.5 35
  • 35 (a)
OneToMany
C49F5.5 35
  • 34 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BDF1 35
  • 22 (a)
ManyToMany
BDF2 35
  • 24 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8744 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToOne
Species where no ortholog for CREBBP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CREBBP Gene

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

Paralogs for CREBBP Gene

Paralogs for CREBBP Gene

genes like me logo Genes that share paralogs with CREBBP: view

Variants for CREBBP Gene

Sequence variations from dbSNP and Humsavar for CREBBP Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs121434626 Rubinstein-Taybi syndrome 1 (RSTS1) 3,740,399(-) GTCAC(C/G)GTCAG reference, missense
rs130015 - 3,739,618(+) TTGGA(C/T)GTGCA intron-variant, reference, missense
rs267606752 Rubinstein-Taybi syndrome 1 (RSTS1) 3,749,631(-) ACCCC(A/G)AACCG reference, missense
VAR_035081 Rubinstein-Taybi syndrome 1 (RSTS1)
VAR_035082 Rubinstein-Taybi syndrome 1 (RSTS1)

Structural Variations from Database of Genomic Variants (DGV) for CREBBP Gene

Variant ID Type Subtype PubMed ID
dgv1288n106 CNV deletion 24896259
dgv4877n54 CNV gain 21841781
dgv4878n54 CNV gain 21841781
esv21490 CNV gain+loss 19812545
esv2656605 CNV deletion 23128226
esv2750419 CNV deletion 23290073
esv3553027 CNV deletion 23714750
esv3581943 CNV loss 25503493
esv3637675 CNV loss 21293372
esv3637676 CNV loss 21293372
esv9178 CNV loss 19470904
nsv1051657 CNV gain 25217958
nsv1070739 CNV deletion 25765185
nsv1121905 CNV deletion 24896259
nsv1134492 CNV deletion 24896259
nsv1140310 OTHER inversion 24896259
nsv571261 CNV loss 21841781
nsv571262 CNV gain 21841781
nsv827526 CNV gain 20364138
nsv833130 CNV gain 17160897
nsv958207 CNV deletion 24416366
nsv974750 CNV duplication 23825009

Variation tolerance for CREBBP Gene

Residual Variation Intolerance Score: 0.217% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.97; 59.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CREBBP Gene

Human Gene Mutation Database (HGMD)
CREBBP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CREBBP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CREBBP Gene

Disorders for CREBBP Gene

MalaCards: The human disease database

(21) MalaCards diseases for CREBBP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
rubinstein-taybi syndrome
  • rubinstein-taybi syndrome 1
acute myeloid leukemia with t(8;16)(p11;p13) translocation
  • aml with t(8;16)(p11;p13) translocation
crebbp-related rubinstein-taybi syndrome
  • crebbp-related broad thumbs-hallux syndrome
chromosome 16p13.3 deletion syndrome, proximal
  • proximal chromosome 16p13.3 deletion syndrome
neonatal leukemia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CBP_HUMAN
  • 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. {ECO:0000269 PubMed:11331617, ECO:0000269 PubMed:12114483, ECO:0000269 PubMed:12566391, ECO:0000269 PubMed:15706485, ECO:0000269 PubMed:20684013, ECO:0000269 PubMed:25388907}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CREBBP

Genetic Association Database (GAD)
CREBBP
Human Genome Epidemiology (HuGE) Navigator
CREBBP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CREBBP
genes like me logo Genes that share disorders with CREBBP: view

No data available for Genatlas for CREBBP Gene

Publications for CREBBP Gene

  1. Screening and association testing of common coding variation in steroid hormone receptor co-activator and co-repressor genes in relation to breast cancer risk: the Multiethnic Cohort. (PMID: 19183483) Haiman C.A. … Press M.F. (BMC Cancer 2009) 3 22 46 65
  2. Phosphorylation of CBP by IKKalpha promotes cell growth by switching the binding preference of CBP from p53 to NF-kappaB. (PMID: 17434128) Huang W.C. … Chen C.C. (Mol. Cell 2007) 3 4 22 65
  3. Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. (PMID: 12566391) Kalkhoven E. … Peters D.J.M. (Hum. Mol. Genet. 2003) 3 4 22 65
  4. Interaction between the hematopoietic Ets transcription factor Spi-B and the coactivator CREB-binding protein associated with negative cross-talk with c-Myb. (PMID: 11864910) Yamamoto H. … Oikawa T. (Cell Growth Differ. 2002) 3 4 22 65
  5. Structural basis for Hif-1 alpha /CBP recognition in the cellular hypoxic response. (PMID: 11959977) Dames S.A. … Wright P.E. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4 22 65

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