Homo sapiens Gene: CREBBP
Summary
InnateDB Gene IDBG-12340.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CREBBP
Gene Name CREB binding protein
Synonyms CBP; KAT3A; RSTS
Species Homo sapiens
Ensembl Gene ENSG00000005339
Encoded Proteins
CREB binding protein
CREB binding protein
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:3725054-3880726
Strand Reverse strand
Band p13.3
Transcripts
ENST00000262367 ENSP00000262367
ENST00000382070 ENSP00000371502
ENST00000575237
ENST00000573672
ENST00000571826 ENSP00000459490
ENST00000573517 ENSP00000460474
ENST00000571763
ENST00000574740
ENST00000572134 ENSP00000458254
ENST00000576720
ENST00000570939 ENSP00000461002
ENST00000572569
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 497 experimentally validated interaction(s) in this database.
They are also associated with 51 interaction(s) predicted by orthology.
Experimentally validated
Total 497 [view]
Protein-Protein 435 [view]
Protein-DNA 42 [view]
Protein-RNA 0
DNA-DNA 20 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 51 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000987 core promoter proximal region sequence-specific DNA binding
GO:0001078 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0001085 RNA polymerase II transcription factor binding
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0001105 RNA polymerase II transcription coactivator activity
GO:0001191 RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription
GO:0002039 p53 binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003712 transcription cofactor activity
GO:0003713 transcription coactivator activity
GO:0004402 histone acetyltransferase activity
GO:0004871 signal transducer activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0008270 zinc ion binding
GO:0016407 acetyltransferase activity
GO:0043426 MRF binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001666 response to hypoxia
GO:0006325 chromatin organization
GO:0006355 regulation of transcription, DNA-templated
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0006461 protein complex assembly
GO:0007165 signal transduction
GO:0007219 Notch signaling pathway
GO:0008589 regulation of smoothened signaling pathway
GO:0010467 gene expression
GO:0016032 viral process
GO:0016573 histone acetylation
GO:0018076 N-terminal peptidyl-lysine acetylation
GO:0030718 germ-line stem cell maintenance
GO:0032481 positive regulation of type I interferon production
GO:0042592 homeostatic process
GO:0042733 embryonic digit morphogenesis
GO:0044255 cellular lipid metabolic process
GO:0044281 small molecule metabolic process
GO:0045087 innate immune response
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048511 rhythmic process
GO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia
GO:0071456 cellular response to hypoxia
Cellular Component
GO:0000123 histone acetyltransferase complex
GO:0000790 nuclear chromatin
GO:0000940 condensed chromosome outer kinetochore
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0016604 nuclear body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
AndrogenReceptor pathway
TGF_beta_Receptor pathway
TNFalpha pathway
Hedgehog pathway
TCR pathway
IL4 pathway
IL6 pathway
Prolactin pathway
REACTOME
TRAF6 mediated IRF7 activation pathway
TRAF3-dependent IRF activation pathway pathway
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways pathway
Factors involved in megakaryocyte development and platelet production pathway
NOTCH1 Intracellular Domain Regulates Transcription pathway
Pre-NOTCH Transcription and Translation pathway
PPARA activates gene expression pathway
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) pathway
Activation of gene expression by SREBF (SREBP) pathway
Regulation of cholesterol biosynthesis by SREBP (SREBF) pathway
Fatty acid, triacylglycerol, and ketone body metabolism pathway
RORA activates circadian gene expression pathway
BMAL1:CLOCK,NPAS2 activates circadian gene expression pathway
REV-ERBA represses gene expression pathway
Circadian Clock pathway
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
YAP1- and WWTR1 (TAZ)-stimulated gene expression pathway
Notch-HLH transcription pathway pathway
Generic Transcription Pathway pathway
Transcriptional regulation of white adipocyte differentiation pathway
Regulation of gene expression by Hypoxia-inducible Factor pathway
HATs acetylate histones pathway
Cellular responses to stress pathway
Transmembrane transport of small molecules pathway
Organelle biogenesis and maintenance pathway
Developmental Biology pathway
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
Metabolism of lipids and lipoproteins pathway
LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production pathway
misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling pathway
Signaling by WNT in cancer pathway
Pre-NOTCH Expression and Processing pathway
Signaling by Wnt pathway
Signaling by NOTCH1 in Cancer pathway
Mitochondrial biogenesis pathway
Innate Immune System pathway
Attenuation phase pathway
FBXW7 Mutants and NOTCH1 in Cancer pathway
Signal Transduction pathway
Orphan transporters pathway
Regulation of Hypoxia-inducible Factor (HIF) by oxygen pathway
Immune System pathway
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
Cellular response to hypoxia pathway
HSF1-dependent transactivation pathway
TCF dependent signaling in response to WNT pathway
Transcriptional activation of mitochondrial biogenesis pathway
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
Chromatin organization pathway
Signaling by NOTCH pathway
Cellular response to heat stress pathway
Chromatin modifying enzymes pathway
Signaling by NOTCH1 pathway
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
RNF mutants show enhanced WNT signaling and proliferation pathway
formation of the beta-catenin:TCF transactivating complex pathway
Metabolism pathway
XAV939 inhibits tankyrase, stabilizing AXIN pathway
Cytosolic sensors of pathogen-associated DNA pathway
Gene Expression pathway
Disease pathway
Hemostasis pathway
KEGG
Wnt signaling pathway pathway
TGF-beta signaling pathway pathway
Cell cycle pathway
Renal cell carcinoma pathway
Notch signaling pathway pathway
Adherens junction pathway
Long-term potentiation pathway
Prostate cancer pathway
Jak-STAT signaling pathway pathway
Melanogenesis pathway
Huntington's disease pathway
Pathways in cancer pathway
INOH
Wnt signaling pathway pathway
LIF signaling pathway
Notch signaling pathway pathway
TGF-beta signaling pathway
BMP2 signaling pathway
PID NCI
Presenilin action in Notch and Wnt signaling
IL12 signaling mediated by STAT4
Notch-mediated HES/HEY network
C-MYB transcription factor network
Signaling events mediated by Stem cell factor receptor (c-Kit)
Signaling events mediated by TCPTP
Hedgehog signaling events mediated by Gli proteins
Posttranslational regulation of adherens junction stability and dissassembly
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.459759 Hs.595172 Hs.600458 Hs.708378
RefSeq NM_001079846 NM_004380
HUGO
OMIM
CCDS CCDS10509 CCDS45399
HPRD 02534
IMGT
EMBL
GenPept
RNA Seq Atlas