Functions and Diseases

RBP Type Canonical_RBPs
Diseases Disease
Drug Drug
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzymeE3 ligase
Localizations Stress granucle
BulkPerturb-seq

Description

Ensembl ID ENSG00000005339 Gene ID 1387 Accession 2348
Symbol CREBBP Alias CBP;RSTS;KAT3A;MKHK1;RSTS1 Full Name CREB binding protein
Status Confidence Length 155660 bases Strand Minus strand
Position 16 : 3725054 - 3880713 RNA binding domain Creb_binding
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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number
ENSP00000371502 Creb_binding PF09030 3e-32 1
ENSP00000262367 Creb_binding PF09030 3.1e-32 1

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal
27536004 The bromodomain protein BRD4 regulates splicing during heat shock. Michelle Hussong 2017-01-09 Nucleic acids research
31312255 Is an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses? Shaobin Lin 2019-01-01 Molecular cytogenetics
32086317 Splicing of enhancer-associated lincRNAs contributes to enhancer activity. Y Jennifer Tan 2020-04-01 Life science alliance
35015755 The activity of human enhancers is modulated by the splicing of their associated lncRNAs. Yihong Jennifer Tan 2022-01-01 PLoS computational biology
34759793 Interconnected Gene Networks Underpin the Clinical Overlap of HNRNPH1-Related and Rubinstein-Taybi Intellectual Disability Syndromes. Lidia Larizza 2021-01-01 Frontiers in neuroscience

Transcripts

Name Transcript ID bp Protein Translation ID
CREBBP-201 ENST00000262367 10790 2442aa ENSP00000262367
CREBBP-202 ENST00000382070 7598 2404aa ENSP00000371502
CREBBP-219 ENST00000637492 100 33aa ENSP00000490244
CREBBP-204 ENST00000571763 548 No protein -
CREBBP-212 ENST00000576720 3578 No protein -
CREBBP-203 ENST00000570939 3316 1105aa ENSP00000461002
CREBBP-210 ENST00000574740 523 No protein -
CREBBP-208 ENST00000573517 718 196aa ENSP00000460474
CREBBP-207 ENST00000572569 553 No protein -
CREBBP-216 ENST00000635919 100 No protein -
CREBBP-220 ENST00000638158 97 No protein -
CREBBP-209 ENST00000573672 922 No protein -
CREBBP-205 ENST00000571826 627 181aa ENSP00000459490
CREBBP-206 ENST00000572134 846 254aa ENSP00000458254
CREBBP-211 ENST00000575237 403 No protein -
CREBBP-213 ENST00000634839 339 No protein -
CREBBP-217 ENST00000636002 84 No protein -
CREBBP-214 ENST00000635753 100 No protein -
CREBBP-215 ENST00000635899 100 No protein -
CREBBP-218 ENST00000636895 100 No protein -

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
2771Body Weights and Measures2.45314842894787E-617903300
2781Body Weights and Measures2.66366128675991E-617903300
73283Electrocardiography9E-623459443
80632Insulin-Like Growth Factor Binding Protein 39E-623251661
87112Neurofibrillary Tangles4E-625188341
88260Cleft Lip9E-1225775280
88261Cleft Palate9E-1225775280
94069Electrocardiography4E-1024952745
100278Cleft Lip1E-1028232668
100279Cleft Palate1E-1028232668

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000122involved_in negative regulation of transcription by RNA polymerase II1IDAHomo_sapiens(9606)Process
GO:0000123part_of histone acetyltransferase complex1IBAHomo_sapiens(9606)Component
GO:0000785part_of chromatin1IDAHomo_sapiens(9606)Component
GO:0001223enables transcription coactivator binding1IPIHomo_sapiens(9606)Function
GO:0001666involved_in response to hypoxia1TASHomo_sapiens(9606)Process
GO:0002039enables p53 binding1IPIHomo_sapiens(9606)Function
GO:0002223involved_in stimulatory C-type lectin receptor signaling pathway1TASHomo_sapiens(9606)Process
GO:0003682enables chromatin binding1IDAHomo_sapiens(9606)Function
GO:0003684enables damaged DNA binding1IDAHomo_sapiens(9606)Function
GO:0003713enables transcription coactivator activity4IBA,IDA,IPI,TASHomo_sapiens(9606)Function
GO:0003714enables transcription corepressor activity1IDAHomo_sapiens(9606)Function
GO:0004402enables histone acetyltransferase activity3IBA,IDA,TASHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005634located_in nucleus2IC,IDAHomo_sapiens(9606)Component
GO:0005654located_in nucleoplasm2IDA,TASHomo_sapiens(9606)Component
GO:0005667part_of transcription regulator complex1IBAHomo_sapiens(9606)Component
GO:0005737is_active_in cytoplasm2IDAHomo_sapiens(9606)Component
GO:0005829located_in cytosol1TASHomo_sapiens(9606)Component
GO:0006338involved_in chromatin remodeling1IEAHomo_sapiens(9606)Process
GO:0006351involved_in DNA-templated transcription1IEAHomo_sapiens(9606)Process
GO:0006355involved_in regulation of DNA-templated transcription1TASHomo_sapiens(9606)Process
GO:0006473involved_in protein acetylation2IDA,TASHomo_sapiens(9606)Process
GO:0007165involved_in signal transduction1NASHomo_sapiens(9606)Process
GO:0008270enables zinc ion binding1IEAHomo_sapiens(9606)Function
GO:0008589involved_in regulation of smoothened signaling pathway1TASHomo_sapiens(9606)Process
GO:0016407enables acetyltransferase activity2EXP,IDAHomo_sapiens(9606)Function
GO:0016479involved_in negative regulation of transcription by RNA polymerase I1IDAHomo_sapiens(9606)Process
GO:0016573involved_in histone acetylation1IBAHomo_sapiens(9606)Process
GO:0016604located_in nuclear body1IDAHomo_sapiens(9606)Component
GO:0018076involved_in N-terminal peptidyl-lysine acetylation1IDAHomo_sapiens(9606)Process
GO:0030511involved_in positive regulation of transforming growth factor beta receptor signaling pathway1IMPHomo_sapiens(9606)Process
GO:0031490enables chromatin DNA binding1IBAHomo_sapiens(9606)Function
GO:0031648involved_in protein destabilization1IMPHomo_sapiens(9606)Process
GO:0031669involved_in cellular response to nutrient levels1IDAHomo_sapiens(9606)Process
GO:0034212enables peptide N-acetyltransferase activity1TASHomo_sapiens(9606)Function
GO:0034644involved_in cellular response to UV1IDAHomo_sapiens(9606)Process
GO:0038061involved_in NIK/NF-kappaB signaling1IDAHomo_sapiens(9606)Process
GO:0042592involved_in homeostatic process1NASHomo_sapiens(9606)Process
GO:0042733involved_in embryonic digit morphogenesis1TASHomo_sapiens(9606)Process
GO:0043426enables MRF binding1IDAHomo_sapiens(9606)Function
GO:0045893involved_in positive regulation of DNA-templated transcription2IDA,ISSHomo_sapiens(9606)Process
GO:0045944involved_in positive regulation of transcription by RNA polymerase II2IBA,IDAHomo_sapiens(9606)Process
GO:0048511involved_in rhythmic process1IEAHomo_sapiens(9606)Process
GO:0061629enables RNA polymerase II-specific DNA-binding transcription factor binding2IPI,TASHomo_sapiens(9606)Function
GO:0061733enables peptide-lysine-N-acetyltransferase activity2EXP,IDAHomo_sapiens(9606)Function
GO:0065003involved_in protein-containing complex assembly1TASHomo_sapiens(9606)Process
GO:0140297enables DNA-binding transcription factor binding1IPIHomo_sapiens(9606)Function
GO:1900034involved_in regulation of cellular response to heat1TASHomo_sapiens(9606)Process
GO:1900182involved_in positive regulation of protein localization to nucleus1IDAHomo_sapiens(9606)Process

Expression