CREBBP Gene (Protein Coding)

CREB Binding Protein

GC16M003726
GIFtS:
53
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 f... See more...

Aliases for CREBBP Gene

Aliases for CREBBP Gene

  • CREB Binding Protein 2 3 5
  • CBP 2 3 4
  • Histone Lysine Acetyltransferase CREBBP 3 4
  • Protein-Lysine Acetyltransferase CREBBP 3 4
  • CREB-Binding Protein 3 4
  • EC 2.3.1.48 4 51
  • KAT3A 2 3
  • Rubinstein-Taybi Syndrome 2
  • EC 2.3.1.- 4
  • CREBBP 5
  • MKHK1 3
  • RSTS1 3
  • RSTS 3
  • RTS 2

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]

CIViC Summary for CREBBP Gene

GeneCards Summary for CREBBP Gene

CREBBP (CREB Binding Protein) is a Protein Coding gene. Diseases associated with CREBBP include Rubinstein-Taybi Syndrome 1 and Menke-Hennekam Syndrome 1. Among its related pathways are Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors and Notch-mediated HES/HEY network. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is EP300.

UniProtKB/Swiss-Prot Summary for CREBBP Gene

  • Acetylates histones, giving a specific tag for transcriptional activation (PubMed:24616510). Also acetylates non-histone proteins, like DDX21, FBL, IRF2, MAFG, NCOA3, POLR1E/PAF53 and FOXO1 (PubMed:10490106, PubMed:11154691, PubMed:12738767, PubMed:12929931, PubMed:9707565, PubMed:24207024, PubMed:28790157, PubMed:30540930). 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 (PubMed:14645221). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Acetylates POLR1E/PAF53, leading to decreased association of RNA polymerase I with the rDNA promoter region and coding region (PubMed:24207024). Acetylates DDX21, thereby inhibiting DDX21 helicase activity (PubMed:28790157). Acetylates FBL, preventing methylation of 'Gln-105' of histone H2A (H2AQ104me) (PubMed:30540930). Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway (PubMed:25514493).

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

Additional gene information for CREBBP Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CREBBP Gene

Genomics for CREBBP Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CREBBP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CREBBP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CREBBP

Top Transcription factor binding sites by QIAGEN in the CREBBP gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • C/EBPalpha
  • p300
  • p53

Genomic Locations for CREBBP Gene

Latest Assembly
chr16:3,725,054-3,880,727
(GRCh38/hg38)
Size:
155,674 bases
Orientation:
Minus strand

Previous Assembly
chr16:3,775,055-3,930,714
(GRCh37/hg19 by Entrez Gene)
Size:
155,660 bases
Orientation:
Minus strand

chr16:3,775,055-3,930,727
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for CREBBP Gene

Proteins for CREBBP Gene

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  • 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 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 with IRF3 (when phosphorylated); forming the dsRNA-activated factor 1 (DRAF1), a complex which activates the transcription of the type I interferon genes (PubMed:27302953). 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 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). Interacts with DHX9 (via N-terminus); this interaction mediates association with RNA polymerase II holoenzyme and stimulates CREB-dependent transcriptional activation (PubMed:9323138). Interacts with SMAD4; negatively regulated by ZBTB7A (PubMed:25514493). Interacts with DUX4 (via C-terminus) (PubMed:26951377). Forms a complex with KMT2A and CREB1 (PubMed:23651431). Interacts with DDX3X; this interaction may facilitate HNF4A acetylation (PubMed:28128295).
    • (Microbial infection) Interacts with HTLV-1 Tax, p30II and HBZ.
    • (Microbial infection) Interacts with human herpes virus 8/HHV-8 protein vIRF-1; this interaction inhibits CREBBP binding to IRF3.
    • (Microbial infection) Interacts with HIV-1 Tat.
    SequenceCaution:
    • Sequence=BAE06125.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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

Protein Expression for CREBBP Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CREBBP Gene

Q92793:
  • VYHEILIGYL
  • LIGYLEY

Post-translational modifications for CREBBP Gene

  • 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.
  • Autoacetylation is required for binding to protein substrates, such as acetylated histones and acetylated TP53/p53.
  • Ubiquitination at Lys2102
  • Modification sites at PhosphoSitePlus

Other Protein References for CREBBP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

Domains & Families for CREBBP Gene

Gene Families for CREBBP Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CREBBP Gene

InterPro:
Blocks:
  • Bromodomain signature
  • Zn-finger, ZZ type
  • TAZ finger
  • Coactivator CBP, KIX
  • Transcriptional coactivation
ProtoNet:

Suggested Antigen Peptide Sequences for CREBBP Gene

GenScript: Design optimal peptide antigens:
  • CREBBP (B5A210_HUMAN)
  • CREBBP (B5A211_HUMAN)
  • CREBBP (B5A212_HUMAN)
  • CREBBP (B5A213_HUMAN)
  • CREBBP (B5A214_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92793

UniProtKB/Swiss-Prot:

CBP_HUMAN :
  • The KIX domain mediates binding to HIV-1 Tat.
Domain:
  • The KIX domain mediates binding to HIV-1 Tat.
genes like me logo Genes that share domains with CREBBP: view

Function for CREBBP Gene

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Molecular function for CREBBP Gene

UniProtKB/Swiss-Prot Function:
Acetylates histones, giving a specific tag for transcriptional activation (PubMed:24616510). Also acetylates non-histone proteins, like DDX21, FBL, IRF2, MAFG, NCOA3, POLR1E/PAF53 and FOXO1 (PubMed:10490106, PubMed:11154691, PubMed:12738767, PubMed:12929931, PubMed:9707565, PubMed:24207024, PubMed:28790157, PubMed:30540930). 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 (PubMed:14645221). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Acetylates POLR1E/PAF53, leading to decreased association of RNA polymerase I with the rDNA promoter region and coding region (PubMed:24207024). Acetylates DDX21, thereby inhibiting DDX21 helicase activity (PubMed:28790157). Acetylates FBL, preventing methylation of 'Gln-105' of histone H2A (H2AQ104me) (PubMed:30540930). Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway (PubMed:25514493).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone]; Xref=Rhea:RHEA:21992, Rhea:RHEA-COMP:9845, Rhea:RHEA-COMP:11338, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:61930; EC=2.3.1.48; Evidence={ECO:0000269|PubMed:24616510};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + L-lysyl-[protein] = CoA + H(+) + N(6)-acetyl-L-lysyl-[protein]; Xref=Rhea:RHEA:45948, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:10731, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:61930; Evidence={ECO:0000269|PubMed:11154691, ECO:0000269|PubMed:12738767, ECO:0000269|PubMed:24207024, ECO:0000269|PubMed:24939902, ECO:0000269|PubMed:30540930};.
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)

Enzyme Numbers (IUBMB) for CREBBP Gene

Phenotypes From GWAS Catalog for CREBBP Gene

Gene Ontology (GO) - Molecular Function for CREBBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001085 RNA polymerase II transcription factor binding IBA,IPI 21539536
GO:0001102 RNA polymerase II activating transcription factor binding TAS 11001584
GO:0002039 p53 binding IPI 9194565
GO:0003682 chromatin binding IDA 24939902
GO:0003684 damaged DNA binding IDA 24939902
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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CREBBP

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CREBBP gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CREBBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IBA 21873635
GO:0000785 chromatin IDA 21539536
GO:0005634 nucleus IEA,IDA 12929931
GO:0005654 nucleoplasm IDA,TAS --
GO:0005667 transcription factor complex IBA 21873635
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

1 Sino Biological pathway for CREBBP Gene
13 GeneGo (Thomson Reuters) pathways for CREBBP Gene
  • Development Ligand-dependent activation of the ESR1/AP-1 pathway
  • Development Ligand-independent activation of ESR1 and ESR2
  • Development Prolactin receptor signaling
  • Development_Glucocorticoid receptor signaling
  • Development_TGF-beta receptor signaling
43 Qiagen pathways for CREBBP Gene
  • Activation of cAMP-Dependent PKA
  • Activation of NF-KappaB by PKR
  • Activation of PKA through GPCR
  • Androgen Signaling
  • BMP Pathway
2 Cell Signaling Technology pathways for CREBBP Gene
4 GeneTex pathways for CREBBP Gene

SIGNOR curated interactions for CREBBP Gene

Activates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for CREBBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II 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 IEA,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

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(62) 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 Investigational Pharma 23
Coenzyme A Investigational Nutra 0
Histone Deacetylase Inhibitors Pharma 669

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
 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 for research

Transcripts for CREBBP Gene

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mRNA/cDNA for CREBBP Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CREBBP

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

No ASD Table

Relevant External Links for CREBBP Gene

GeneLoc Exon Structure for
CREBBP

Expression for CREBBP Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CREBBP Gene

mRNA expression in normal human tissues for CREBBP Gene
mRNA expression by GTEx for CREBBP GenemRNA expression by BioGPS 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, MaxQB, and MOPED for CREBBP Gene



Protein tissue co-expression partners for CREBBP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CREBBP

SOURCE GeneReport for Unigene cluster for CREBBP Gene:

Hs.459759

Evidence on tissue expression from TISSUES for CREBBP Gene

  • Nervous system(4.8)
  • Liver(4.6)
  • Muscle(3.3)
  • Intestine(3.2)
  • Kidney(3.1)
  • Skin(2.9)
  • Heart(2.8)
  • Blood(2.8)
  • Lung(2.8)
  • Bone marrow(2.7)
  • Spleen(2.5)
  • Lymph node(2.5)
  • Thyroid gland(2.5)
  • Adrenal gland(2.4)
  • Stomach(2.3)
  • Pancreas(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CREBBP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lacrimal apparatus
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • scalp
  • skull
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • spleen
Pelvis:
  • ovary
  • pelvis
  • penis
  • placenta
  • rectum
  • testicle
  • urethra
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CREBBP: view

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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
Chimpanzee
(Pan troglodytes)
 Mammalia CREBBP 30 31
  • 99.78 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CREBBP 30 31
  • 91.25 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CREBBP 30 31
  • 90.23 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CREBBP 31
  • 90 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Crebbp 30
  • 89.93 (n)
Mouse
(Mus musculus)
 Mammalia Crebbp 30 17 31
  • 89.65 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CREBBP 31
  • 84 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CREBBP 30 31
  • 81.69 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CREBBP 31
  • 74 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia crebbp 30
  • 71.82 (n)
Str.16673 30
African clawed frog
(Xenopus laevis)
 Amphibia crebbp-A 30
Zebrafish
(Danio rerio)
 Actinopterygii LOC101884291 30
  • 72.42 (n)
CREBBP (1 of 3) 31
  • 68 (a)
 OneToMany
crebbpb 31
  • 66 (a)
 OneToMany
crebbpa 31
  • 66 (a)
 OneToMany
Dr.10005 30
Fruit Fly
(Drosophila melanogaster)
 Insecta nej 32
  • 67 (a)
CG30417 31
  • 35 (a)
 ManyToMany
CG13597 31
  • 23 (a)
 ManyToMany
CG7229 31
  • 20 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea F40F12.7 32
  • 63 (a)
C29F9.5 31
  • 35 (a)
 OneToMany
C49F5.5 31
  • 34 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes BDF2 31
  • 24 (a)
 ManyToMany
BDF1 31
  • 22 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 45 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.8744 30
Species where no ortholog for CREBBP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for CREBBP: view image

Paralogs for CREBBP Gene

Paralogs for CREBBP Gene

(9) SIMAP similar genes for CREBBP Gene using alignment to 47 proteins:

  • CBP_HUMAN
  • B5A210_HUMAN
  • B5A211_HUMAN
  • B5A212_HUMAN
  • B5A213_HUMAN
  • B5A214_HUMAN
  • B5A215_HUMAN
  • B5A216_HUMAN
  • B5A217_HUMAN
  • B5A218_HUMAN
  • B5A219_HUMAN
  • B5A220_HUMAN
  • B5A221_HUMAN
  • B5A222_HUMAN
  • B5A223_HUMAN
  • B5A224_HUMAN
  • B5A225_HUMAN
  • B5A226_HUMAN
  • B5A227_HUMAN
  • B5A228_HUMAN
  • B5A229_HUMAN
  • B5A230_HUMAN
  • B5A231_HUMAN
  • B5A232_HUMAN
  • B5A233_HUMAN
  • B5A234_HUMAN
  • B5A235_HUMAN
  • B5A236_HUMAN
  • B5A237_HUMAN
  • B5A238_HUMAN
  • B5A239_HUMAN
  • B5A240_HUMAN
  • B5A241_HUMAN
  • B5A242_HUMAN
  • B5A243_HUMAN
  • B5A244_HUMAN
  • B5A246_HUMAN
  • B5A248_HUMAN
  • B5A249_HUMAN
  • B5A250_HUMAN
  • B5A252_HUMAN
  • B5A253_HUMAN
  • I3L0Q1_HUMAN
  • I3L293_HUMAN
  • I3L3I5_HUMAN
  • I3L466_HUMAN
  • Q4G0V0_HUMAN
genes like me logo Genes that share paralogs with CREBBP: view

Variants for CREBBP Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CREBBP Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
620027 Likely Pathogenic: Rubinstein-Taybi syndrome 1 3,757,906(-) G/C
NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg) 		MISSENSE
833980 Benign: Rubinstein-Taybi syndrome 3,731,926(-) G/A
NM_004380.3(CREBBP):c.4740C>T (p.Gly1580=) 		SYNONYMOUS
841522 Uncertain Significance: Rubinstein-Taybi syndrome 3,850,820(-) C/T
NM_004380.3(CREBBP):c.275G>A (p.Ser92Asn) 		MISSENSE
842619 Pathogenic: Rubinstein-Taybi syndrome 3,850,527(-) TG/T
NM_004380.3(CREBBP):c.567del (p.Asn190fs) 		FRAMESHIFT
846543 Pathogenic: Rubinstein-Taybi syndrome 3,770,655(-) GT/G
NM_004380.3(CREBBP):c.2794del (p.Thr932fs) 		FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CREBBP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CREBBP Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for CREBBP Gene

MalaCards: The human disease database

(83) MalaCards diseases for CREBBP Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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:24616510, ECO:0000269 PubMed:25388907}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Menke-Hennekam syndrome 1 (MKHK1) [MIM:618332]: A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. {ECO:0000269 PubMed:27311832, ECO:0000269 PubMed:29460469, ECO:0000269 PubMed:30737887}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CREBBP

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

No data available for Genatlas for CREBBP Gene

Publications for CREBBP Gene

  1. Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome. (PMID: 11331617) Murata T … Hayashi Y (Human molecular genetics 2001) 3 4 23 74
  2. CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. (PMID: 27311832) Menke LA … Hennekam RC (American journal of medical genetics. Part A 2016) 3 4 74
  3. 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 CA … Press MF (BMC cancer 2009) 3 23 41
  4. Phosphorylation of CBP by IKKalpha promotes cell growth by switching the binding preference of CBP from p53 to NF-kappaB. (PMID: 17434128) Huang WC … Chen CC (Molecular cell 2007) 3 4 23
  5. 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. (PMID: 15075319) Wang H … Oettgen P (The Journal of biological chemistry 2004) 3 4 23

ExternalLinks

View latest publications for CREBBP gene in Mastermind

Products for CREBBP Gene