Description: Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA. (from RefSeq NM_004380) RefSeq Summary (NM_004380): 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]. Gencode Transcript: ENST00000262367.10 Gencode Gene: ENSG00000005339.15 Transcript (Including UTRs) Position: hg38 chr16:3,725,054-3,880,713 Size: 155,660 Total Exon Count: 31 Strand: - Coding Region Position: hg38 chr16:3,727,718-3,879,916 Size: 152,199 Coding Exon Count: 31
ID:CBP_HUMAN DESCRIPTION: RecName: Full=CREB-binding protein; EC=126.96.36.199; 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]. SUBUNIT: Found in a complex containing NCOA2; NCOA3; IKKA; IKKB and IKBKG. Probably part of a complex with HIF1A and EP300. Interacts with GATA1; the interaction results in acetylation and enhancement of transcriptional activity of GATA1. Interacts with MAF AND ZCCHC12. Interacts with DAXX; the interaction is dependent on CBP sumoylation and results in suppression of the transcriptional activiy via recruitment of HDAC2 to DAAX (By similarity). Interacts with phosphorylated CREB1. Interacts with CITED4 (C-terminal region). Interacts (via the TAZ-type 1 domain) with HIF1A. Interacts with SRCAP, CARM1, ELF3, MLLT7/FOXO4, N4BP2, NCOA1, NCOA3, NCOA6, PCAF, DDX5, DDX17, PELP1, PML, SMAD1, SMAD2, SMAD3, SPIB and TRERF1. Interacts with HTLV-1 Tax and p30II. Interacts with HIV-1 Tat. Interacts with KLF1; the interaction results in acetylation of KLF1 and enhancement of its transcriptional activity. Interacts with MTDH. Interacts with NFATC4. Interacts with MAFG; the interaction acetylates MAFG in the basic region and stimulates NFE2 transcriptional activity through increasing its DNA-binding activity. Interacts with IRF2; the interaction acetylates IRF2 and regulates its activity on the H4 promoter. Interacts (via N-terminus) with SS18L1/CREST (via C- terminus). Interacts with MECOM. Interacts with CITED1 (via C- terminus). Interacts with FOXO1; the interaction acetylates FOXO1 and inhibits its transcriptional activity. INTERACTION: P10275:AR; NbExp=2; IntAct=EBI-81215, EBI-608057; Q9UER7:DAXX; NbExp=2; IntAct=EBI-81215, EBI-77321; Q12778:FOXO1; NbExp=2; IntAct=EBI-81215, EBI-1108782; P48551:IFNAR2; NbExp=4; IntAct=EBI-81215, EBI-958408; Q14653:IRF3; NbExp=3; IntAct=EBI-81215, EBI-2650369; Q92831:KAT2B; NbExp=3; IntAct=EBI-81215, EBI-477430; Q86UE4:MTDH; NbExp=2; IntAct=EBI-81215, EBI-1046588; P55209:NAP1L1; NbExp=3; IntAct=EBI-81215, EBI-356392; Q14686:NCOA6; NbExp=2; IntAct=EBI-81215, EBI-78670; Q04206:RELA; NbExp=3; IntAct=EBI-81215, EBI-73886; P04637:TP53; NbExp=6; IntAct=EBI-81215, EBI-366083; SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Recruited to nuclear bodies by SS18L1/CREST. In the presence of ALX1 relocalizes from the cytoplasm to the nucleus. DOMAIN: The KIX domain mediates binding to HIV-1 Tat. PTM: 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). PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. 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. PTM: Sumoylation negatively regulates transcriptional activity via the recruitment of DAAX (By similarity). DISEASE: Note=Chromosomal aberrations involving CREBBP may be a cause of acute myeloid leukemias. Translocation t(8;16)(p11;p13) with KAT6A; translocation t(11;16)(q23;p13.3) with MLL/HRX; translocation t(10;16)(q22;p13) with KAT6B. KAT6A-CREBBP may induce leukemia by inhibiting RUNX1-mediated transcription. DISEASE: Defects in CREBBP are a cause of Rubinstein-Taybi syndrome type 1 (RSTS1) [MIM:180849]. RSTS1 is an autosomal dominant disorder characterized by craniofacial abnormalities, broad thumbs, broad big toes, mental retardation and a propensity for development of malignancies. SIMILARITY: Contains 1 bromo domain. SIMILARITY: Contains 1 KIX domain. SIMILARITY: Contains 2 TAZ-type zinc fingers. SIMILARITY: Contains 1 ZZ-type zinc finger. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CBPID42.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CREBBP"; WEB RESOURCE: Name=Wikipedia; Note=P300/CBP entry; URL="http://en.wikipedia.org/wiki/P300/CBP";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q92793
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BioCarta from NCI Cancer Genome Anatomy Project h_pelp1Pathway - Pelp1 Modulation of Estrogen Receptor Activity h_pitx2Pathway - Multi-step Regulation of Transcription by Pitx2 h_wntPathway - WNT Signaling Pathway h_tgfbPathway - TGF beta signaling pathway h_pcafpathway - The information-processing pathway at the IFN-beta enhancer h_pparaPathway - Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) h_il7Pathway - IL-7 Signal Transduction h_HuntingtonPathway - Inhibition of Huntington's disease neurodegeneration by histone deacetylase inhibitors h_pmlPathway - Regulation of transcriptional activity by PML h_RELAPathway - Acetylation and Deacetylation of RelA in The Nucleus h_nthiPathway - NFkB activation by Nontypeable Hemophilus influenzae h_ppargPathway - Role of PPAR-gamma Coactivators in Obesity and Thermogenesis h_CSKPathway - Activation of Csk by cAMP-dependent Protein Kinase Inhibits Signaling through the T Cell Receptor h_carm-erPathway - CARM1 and Regulation of the Estrogen Receptor h_carm1Pathway - Transcription Regulation by Methyltransferase of CARM1 h_nfatPathway - NFAT and Hypertrophy of the heart (Transcription in the broken heart) h_setPathway - Granzyme A mediated Apoptosis Pathway h_vdrPathway - Control of Gene Expression by Vitamin D Receptor