Aliases for CREBBP Gene
Aliases for CREBBP Gene
External Ids for CREBBP Gene
- HGNC: 2348
- Entrez Gene: 1387
- Ensembl: ENSG00000005339
- OMIM: 600140
- UniProtKB: Q92793
Previous HGNC Symbols for CREBBP Gene
- RSTS
Previous GeneCards Identifiers for CREBBP Gene
- GC16M003805
- GC16M003776
- GC16M003716
- GC16M003775
Summaries 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 1 and Chromosome 16P13.3 Deletion Syndrome, Proximal. Among its related pathways are Gene Expression and CD209 (DC-SIGN) signaling. 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 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).
-
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.
Additional gene information for CREBBP Gene
- Monarch Initiative
- Search for CREBBP at DataMed
- Search for CREBBP at HumanCyc
No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CREBBP Gene
Genomics for CREBBP Gene
GeneHancer (GH) Regulatory Elements for CREBBP Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CREBBP gene promoter:
-
- AP-2alphaA
- AP-2alpha isoform 4
- AP-2alpha isoform 3
- AP-2alpha isoform 2
- AP-2alpha
- AP-1
- C/EBPalpha
- p53
- p300
Regulatory Element Products
Genomic Locations for CREBBP Gene
Genomic Locations for CREBBP Gene
- chr16:3,725,054-3,880,726
- (GRCh38/hg38)
- Size:
- 155,673 bases
- Orientation:
- Minus strand
- chr16:3,775,055-3,930,727
- (GRCh37/hg19)
- 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:
-
- 16p13.3 by Entrez Gene
- 16p13.3 by HGNC
- 16p13.3 by Ensembl
CREBBP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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). Interacts with DHX9 (via N-terminus); this interaction mediates association with RNA polymerase II holoenzyme and stimulates CREB-dependent transcriptional activation (PubMed:9323138).
- 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
Protein Expression for CREBBP Gene
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 posLast=21022102
- Modification sites at PhosphoSitePlus
Other Protein References for CREBBP Gene
Antibody Products
- R&D Systems Antibodies for CREBBP (CBP)
-
Custom Antibody ServicesOriGene Antibodies for CREBBP
- Novus Biologicals Antibodies for CREBBP
-
Abcam antibodies for CREBBP
- Invitrogen Antibodies for CREBBP
- antibodies-online: Search results for 145 available CBP Antibodies ranked by validation data
- Compare Top CBP Antibodies
-
Recommended
- 84 WB Antibodies (anti-human)
- 18 IHC (p) Antibodies (anti-human)
- 8 IHC Antibodies (anti-human)
- 3 IP Antibodies (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 49 WB Antibodies (anti-mouse)
- 11 IHC (p) Antibodies (anti-mouse)
- 3 IHC Antibodies (anti-mouse)
- 2 IP Antibodies (anti-mouse)
- 32 WB Antibodies (anti-rat)
- 11 IHC (p) Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- GeneTex CREBBP Antibody for CREBBP
-
Santa Cruz Biotechnology (SCBT) Antibodies for CREBBP
- Sino Biological Antibodies for CREBBP
Protein Products
-
OriGene Purified Proteins for CREBBP
- Search Origene for MassSpec and Protein Over-expression Lysates for CREBBP
- Origene Custom Protein Services for CREBBP
- Novus Biologicals proteins for CREBBP
- Search GeneTex for Proteins for CREBBP
-
ProSci Proteins for CREBBP
-
Abcam proteins for CREBBP
Assay Products
No data available for DME Specific Peptides for CREBBP Gene
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for CREBBP Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q92793- Domain:
-
- The KIX domain mediates binding to HIV-1 Tat.
Function for CREBBP Gene
Molecular function for CREBBP Gene
- 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).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Acetyl-CoA + [protein]-L-lysine = CoA + [protein]-N(6)-acetyl-L-lysine.
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000987 | proximal promoter sequence-specific DNA binding | IDA | 21539536 |
| GO:0001078 | transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA 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:0001191 | transcriptional repressor activity, RNA polymerase II transcription factor binding | IDA | 21539536 |
Phenotypes for CREBBP Gene
- MGI mutant phenotypes for CREBBP:
-
inferred from 11 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- limbs/digits/tail phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- neoplasm
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- craniofacial phenotype
- liver/biliary system phenotype
- skeleton phenotype
- embryo phenotype
- normal phenotype
- adipose tissue phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for CREBBP:
-
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased homologous recombination repair frequency
- Decreased hepcidin::fluc mRNA expression
- Increased viability
- Lamellipodia cells
Animal Models for CREBBP Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CREBBP
-
CRISPR Products
-
OriGene CRISPR knockouts for CREBBP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CREBBP
- genomics-online: gRNA clones - Search results for 96 available CBP gene related products
- Overview of 96 available CBP gene related products
- Applied Biological Materials CRISPR for CREBBP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CREBBP
- GenScript: Design CRISPR guide RNA sequences for CREBBP
miRNA for CREBBP Gene
- miRTarBase miRNAs that target CREBBP
-
- hsa-mir-324-3p (MIRT004683)
- hsa-mir-1301-3p (MIRT035967)
- hsa-mir-935 (MIRT036676)
- hsa-mir-769-5p (MIRT039168)
- hsa-mir-125b-5p (MIRT045961)
- hsa-mir-100-5p (MIRT048558)
- hsa-let-7e-5p (MIRT051673)
- hsa-mir-543 (MIRT343552)
- hsa-mir-4635 (MIRT369299)
- hsa-mir-218-5p (MIRT440879)
- hsa-mir-33a-3p (MIRT447719)
- hsa-mir-1264 (MIRT447720)
- hsa-mir-6507-3p (MIRT447721)
- hsa-mir-4684-5p (MIRT500143)
- hsa-mir-3143 (MIRT500144)
- hsa-mir-601 (MIRT500145)
- hsa-mir-4765 (MIRT500146)
- hsa-mir-942-5p (MIRT500147)
- hsa-mir-1251-5p (MIRT500148)
- hsa-mir-517-5p (MIRT500149)
- hsa-mir-325 (MIRT500150)
- hsa-mir-628-3p (MIRT500151)
- hsa-mir-6729-3p (MIRT500152)
- hsa-mir-8079 (MIRT500153)
- hsa-mir-1245a (MIRT500154)
- hsa-mir-5586-3p (MIRT500155)
- hsa-mir-802 (MIRT500156)
- hsa-mir-2681-5p (MIRT548736)
- hsa-mir-302c-5p (MIRT548737)
- hsa-mir-5681b (MIRT548738)
- hsa-mir-571 (MIRT548739)
- hsa-mir-5680 (MIRT548740)
- hsa-mir-6512-5p (MIRT548741)
- hsa-mir-338-5p (MIRT548742)
- hsa-mir-4517 (MIRT548743)
- hsa-mir-1252-3p (MIRT548744)
- hsa-mir-219a-1-3p (MIRT548745)
- hsa-mir-4268 (MIRT641514)
- hsa-mir-4641 (MIRT641515)
- hsa-mir-4264 (MIRT641516)
- hsa-mir-4797-3p (MIRT641517)
- hsa-mir-6769b-3p (MIRT641518)
- hsa-mir-4723-3p (MIRT641519)
- hsa-mir-3183 (MIRT641520)
- hsa-mir-660-3p (MIRT641521)
- hsa-mir-5193 (MIRT641522)
- hsa-mir-4328 (MIRT641523)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CREBBP
- Browse OriGene Inhibitory RNA Products For CREBBP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CREBBP
- genomics-online: shRNA clones - Search results for 96 available CBP gene related products
- Overview of 96 available CBP gene related products
Clone Products
- Sino Biological Human cDNA Clone for CREBBP
- VectorBuilder custom plasmid, inducible vectors for CREBBP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CREBBP
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CREBBP
- Applied Biological Materials Clones for CREBBP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 1 |
| extracellular | 1 |
| peroxisome | 1 |
| cytosol | 1 |
- Nuclear bodies (4)
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000123 | histone acetyltransferase complex | IEA | -- |
| GO:0000790 | nuclear chromatin | IDA | 21539536 |
| GO:0005634 | nucleus | TAS,IDA | 12929931 |
| GO:0005654 | nucleoplasm | TAS,IDA | -- |
| GO:0005737 | cytoplasm | TAS,IDA | 12929931 |
Pathways & Interactions for CREBBP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Signaling by NOTCH1 | ||
| 2 | Activation of cAMP-Dependent PKA |
.77
|
.56
|
| 3 | BMAL1-CLOCK,NPAS2 activates circadian gene expression |
.68
|
|
| 4 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
| 5 | CREB Pathway |
.68
.68
|
|
Pathways by source for CREBBP Gene
4 GeneTex pathways for CREBBP Gene
36 BioSystems pathways for CREBBP Gene
63 Reactome pathways for CREBBP Gene
1 PharmGKB pathway for CREBBP Gene
27 KEGG pathways for CREBBP Gene
13 GeneGo (Thomson Reuters) pathways for CREBBP Gene
4 R&D Systems pathways for CREBBP Gene
43 Qiagen pathways for CREBBP Gene
2 Cell Signaling Technology pathways for CREBBP Gene
Interacting Proteins for CREBBP Gene
Selected Interacting proteins:
Q92793-CBP_HUMAN
ENSP00000262367
for CREBBP Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CREBBP
SIGNOR curated interactions 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:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA,TAS | 15261140 |
Drugs & Compounds for CREBBP Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| acetyl-coa |
|
72-89-9 |
(4) ApexBio Compounds for CREBBP Gene
Transcripts for CREBBP Gene
mRNA/cDNA for CREBBP Gene
- (8) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (380) Selected AceView cDNA sequences:
- (20) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000262367 10803 bps (uc002cvv.4)
- ENST00000382070 7598 bps (uc002cvw.4)
- ENST00000637492 100 bps
- ENST00000571763 548 bps (uc059qbp.1)
- ENST00000576720 3578 bps (uc059qbq.1)
Unigene Clusters for CREBBP Gene
CRISPR Products
-
OriGene CRISPR knockouts for CREBBP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CREBBP
- genomics-online: gRNA clones - Search results for 96 available CBP gene related products
- Overview of 96 available CBP gene related products
- Applied Biological Materials CRISPR for CREBBP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CREBBP
- GenScript: Design CRISPR guide RNA sequences for CREBBP
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CREBBP
- Browse OriGene Inhibitory RNA Products For CREBBP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CREBBP
- genomics-online: shRNA clones - Search results for 96 available CBP gene related products
- Overview of 96 available CBP gene related products
Clone Products
- Sino Biological Human cDNA Clone for CREBBP
- VectorBuilder custom plasmid, inducible vectors for CREBBP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CREBBP
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CREBBP
- Applied Biological Materials Clones for CREBBP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CREBBP Gene:
CREBBPSOURCE GeneReport for Unigene cluster for CREBBP Gene:
Hs.459759Evidence on tissue expression from TISSUES for CREBBP Gene
- Nervous system(4.8)
- Liver(4.5)
- Muscle(3)
- Kidney(2.7)
- Intestine(2.6)
- Blood(2.4)
- Heart(2.4)
- Lung(2.4)
- Thyroid gland(2.1)
- Skin(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
Primer Products
-
OriGene qPCR primer pairs for CREBBP
- genomics-online: primer clones - Search results for 96 available CBP gene related products
- Overview of 96 available CBP gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CREBBP 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CREBBP 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CREBBP 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CREBBP 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Crebbp 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Crebbp 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CREBBP 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CREBBP 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CREBBP 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | crebbp 33 |
|
||
| Str.16673 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | crebbp-A 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC101884291 33 |
|
||
| CREBBP (1 of 3) 34 |
|
OneToMany | |||
| crebbpb 34 |
|
OneToMany | |||
| crebbpa 34 |
|
OneToMany | |||
| Dr.10005 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | nej 35 |
|
|
|
| CG30417 34 |
|
ManyToMany | |||
| CG13597 34 |
|
ManyToMany | |||
| CG7229 34 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | F40F12.7 35 |
|
|
|
| C29F9.5 34 |
|
OneToMany | |||
| C49F5.5 34 |
|
OneToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BDF2 34 |
|
ManyToMany | |
| BDF1 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne | |
| Cin.8744 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.8744 33 |
|
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for CREBBP: view image
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
Variants for CREBBP Gene
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057518789 | likely-pathogenic, Global developmental delay, Scoliosis | 3,728,803(-) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, stop_gained | |
| rs1057518844 | likely-pathogenic, Abnormality of the thumb, Glaucoma | 3,757,288(-) | C/T | coding_sequence_variant, missense_variant | |
| rs1057519884 | likely-pathogenic, Uterine cervical neoplasms, Transitional cell carcinoma of the bladder, Medulloblastoma, Adenoid cystic carcinoma, Squamous cell carcinoma of the head and neck, Colorectal Neoplasms, Adenocarcinoma of stomach, Hepatocellular carcinoma, Squamous cell carcinoma of lung, Glioblastoma, Malignant melanoma of skin | 3,738,616(-) | C/A/T | coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant | |
| rs11644721 | pathogenic, Rubinstein-Taybi syndrome | 3,851,010(-) | C/A/T | genic_upstream_transcript_variant, splice_acceptor_variant | |
| rs121434624 | pathogenic, Rubinstein-Taybi syndrome | 3,850,689(-) | G/A/C | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, stop_gained |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CREBBP Gene
Disorders for CREBBP Gene
(25) MalaCards diseases for CREBBP Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| rubinstein-taybi syndrome 1 |
|
|
| chromosome 16p13.3 deletion syndrome, proximal |
|
|
| acute myeloid leukemia with t(8;16)(p11;p13) translocation |
|
|
| neonatal leukemia |
|
|
| floating-harbor syndrome |
|
|
Search CREBBP in MalaCards
View complete list of genes associated with diseases
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 mutations affecting the gene represented in this entry.
- Note=De novo missense mutations in the last part of exon 30 or beginning of exon 31 are associated with growth retardation, craniofacial dysmorphism and additional Rubinstein-Taybi-like features. No patients have broad thumbs. Patients have intellectual disability of variable severity, a marked speech delay, 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}.
Additional Disease Information for CREBBP
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CREBBP Gene
Publications for CREBBP Gene
- 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 22 44 58
- 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 22 58
- Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. (PMID: 12566391) Kalkhoven E … Peters DJ (Human molecular genetics 2003) 3 4 22 58
- Structural basis for Hif-1 alpha /CBP recognition in the cellular hypoxic response. (PMID: 11959977) Dames SA … Wright PE (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4 22 58
- 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 & differentiation : the molecular biology journal of the American Association for Cancer Research 2002) 3 4 22 58
Products for CREBBP Gene
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