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CREBBP CREB binding protein [ Homo sapiens (human) ]

Gene ID: 1387, updated on 29-Mar-2020

Summary

Official Symbol
CREBBPprovided by HGNC
Official Full Name
CREB binding proteinprovided by HGNC
Primary source
HGNC:HGNC:2348
See related
Ensembl:ENSG00000005339 MIM:600140
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CBP; RSTS; KAT3A; MKHK1; RSTS1
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]
Expression
Ubiquitous expression in testis (RPKM 12.8), bone marrow (RPKM 12.2) and 25 other tissues See more
Orthologs

Genomic context

See CREBBP in Genome Data Viewer
Location:
16p13.3
Exon count:
33
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (3725054..3880727, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3775055..3930121, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371060 Neighboring gene SLX4 structure-specific endonuclease subunit Neighboring gene deoxyribonuclease 1 Neighboring gene TNF receptor associated protein 1 Neighboring gene long intergenic non-protein coding RNA 2861 Neighboring gene adenylate cyclase 9

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Menke-Hennekam syndrome 1
MedGen: CN258217 OMIM: 618332 GeneReviews: Not available
Compare labs
Rubinstein-Taybi syndrome 1
MedGen: C4551859 OMIM: 180849 GeneReviews: Rubinstein-Taybi Syndrome
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2019-10-23)

ClinGen Genome Curation PagePubMed
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2019-10-23)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.
NHGRI GWA Catalog
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
NHGRI GWA Catalog
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Binding of HIV-1 Tat to p300 induces a conformational change in the CBP/p300 complex such that it can acquire and bind better to basal transcription factors, indicating Tat helps CBP/p300 recruit new partners to the transcription machinery PubMed
tat HIV-1 Tat recruits the CBP/p300 complex, as well as other known cellular acetyltransferases, to the HIV-1 LTR promoter, an effect involved in the acetylation of histones H3 and H4, and HIV-1 transcriptional activation PubMed
tat HIV-1 Tat binding peaks in Tat expression Jurkat cells are associated with specific cellular factors (CBP and ETS) and chromatin marks (H3K4me3 and H3K27me3) in Jurkat cells PubMed
tat HIV-1 Tat treatment of hematopoietic progenitor cells upregulates CBP gene expression (7- to 9-fold) and protein levels (5- to 7-fold) within 6-12 hours after stimulation PubMed
tat The N-terminal 24 amino acids of HIV-1 Tat mediate its binding to the KIX domain (amino acids 589-679) of CBP PubMed
tat HIV-1 Tat regulates the activity of CBP by inhibiting CBP acetylation of histones, but not CBP acetylation of p53 or MyoD, indicating Tat induces a substrate selectivity for CBP PubMed
tat HIV-1 Tat inhibits the histone acetyltransferase and transcriptional activation activities of CBP, an effect mediated by amino acids 86-101 of Tat PubMed
tat HIV-1 Tat induces CBP to complex with NFkappaB p65 and bind to the IL-8 promoter leading to an upregulation of IL-8 expression PubMed
tat Acetylation of the p50 subunit of NFkappaB by CBP/p300 is regulated by HIV-1 Tat PubMed
tat HIV-1 Tat binds to the minimal histone acetyltransferase domain of the CBP/p300 complex (amino acids 1253-1710 of p300) and E1a binding domain (amino acids 1542-1710) of p300, an effect mediated by the basic domain (amino acids 48-57) of Tat PubMed
tat Acetylation of HIV-1 Tat by the p300/CBP complex at Lys50 regulates Tat binding to cyclin T1 and HIV-1 TAR RNA, as well as Tat-mediated transactivation of the HIV-1 LTR promoter, by allowing Tat to dissociate from TAR RNA PubMed
tat HIV-1 Tat is acetylated by the p300/CBP complex on Lys50 and Lys51 PubMed
tat HIV-1 Tat induces the polyubiquitination and degradation of Tip60 through p300/CBP-associated E4-type ubiquitin-ligase activity, which results in a dramatic impairment of the Tip60-dependent apoptotic cell response to DNA damage PubMed
Vpr vpr HIV-1 Vpr binds directly to the CBP co-activator to induce transcription of the HIV-1 LTR and glucocorticoid-responsive promoters PubMed
integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that CREBBP gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with CREBBP PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
MRF binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II activating transcription factor binding TAS
Traceable Author Statement
more info
PubMed 
RNA polymerase II transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
acetyltransferase activity EXP
Inferred from Experiment
more info
PubMed 
acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
damaged DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
histone acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
histone acetyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
p53 binding IPI
Inferred from Physical Interaction
more info
PubMed 
peptide-lysine-N-acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator activity IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
N-terminal peptidyl-lysine acetylation IDA
Inferred from Direct Assay
more info
PubMed 
Notch signaling pathway TAS
Traceable Author Statement
more info
 
beta-catenin-TCF complex assembly TAS
Traceable Author Statement
more info
 
cellular response to UV IDA
Inferred from Direct Assay
more info
PubMed 
embryonic digit morphogenesis TAS
Traceable Author Statement
more info
PubMed 
histone acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone glutamine methylation IDA
Inferred from Direct Assay
more info
PubMed 
homeostatic process NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of Notch signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
positive regulation of transcription of Notch receptor target TAS
Traceable Author Statement
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of type I interferon production TAS
Traceable Author Statement
more info
 
protein acetylation IDA
Inferred from Direct Assay
more info
PubMed 
protein acetylation TAS
Traceable Author Statement
more info
PubMed 
protein destabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
regulation of apoptotic process TAS
Traceable Author Statement
more info
 
regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
regulation of lipid metabolic process TAS
Traceable Author Statement
more info
 
regulation of myeloid cell differentiation TAS
Traceable Author Statement
more info
 
regulation of smoothened signaling pathway TAS
Traceable Author Statement
more info
PubMed 
regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
Traceable Author Statement
more info
 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
response to hypoxia TAS
Traceable Author Statement
more info
PubMed 
rhythmic process IEA
Inferred from Electronic Annotation
more info
 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
stimulatory C-type lectin receptor signaling pathway TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
histone acetyltransferase complex IEA
Inferred from Electronic Annotation
more info
 
host cell nucleus IEA
Inferred from Electronic Annotation
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IC
Inferred by Curator
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
CREB-binding protein
Names
histone lysine acetyltransferase CREBBP
protein-lysine acetyltransferase CREBBP
NP_001073315.1
NP_004371.2
XP_005255181.1
XP_005255182.1
XP_006720911.1
XP_011520683.1
XP_011520684.1
XP_016878433.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009873.2 RefSeqGene

    Range
    5001..160660
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001079846.1NP_001073315.1  CREB-binding protein isoform b

    See identical proteins and their annotated locations for NP_001073315.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AB210043, AC006111, U85962
    Consensus CDS
    CCDS45399.1
    UniProtKB/Swiss-Prot
    Q92793
    Related
    ENSP00000371502.3, ENST00000382070.7
    Conserved Domains (10) summary
    cd05495
    Location:10491156
    Bromo_cbp_like; Bromodomain, cbp_like subfamily. Cbp (CREB binding protein or CREBBP) is an acetyltransferase acting on histone, which gives a specific tag for transcriptional activation and also acetylates non-histone proteins. CREBBP binds specifically to ...
    smart00551
    Location:17281806
    ZnF_TAZ; TAZ zinc finger, present in p300 and CBP
    cd02337
    Location:16671707
    ZZ_CBP; Zinc finger, ZZ type. Zinc finger present in CBP/p300 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. CREB-binding protein (CBP) is a large multidomain protein that ...
    pfam09606
    Location:19482375
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cd15802
    Location:11681240
    RING_CBP-p300; atypical RING domain found in CREB-binding protein and p300 histone acetyltransferases
    cd15557
    Location:12421273
    PHD_CBP_p300; PHD finger found in CREB-binding protein (CBP) and histone acetyltransferase p300
    pfam02135
    Location:363405
    zf-TAZ; TAZ zinc finger
    pfam02172
    Location:549629
    KIX; KIX domain
    pfam08214
    Location:13041611
    HAT_KAT11; Histone acetylation protein
    pfam09030
    Location:19962073
    Creb_binding; Creb binding
  2. NM_004380.3NP_004371.2  CREB-binding protein isoform a

    See identical proteins and their annotated locations for NP_004371.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform a).
    Source sequence(s)
    AB210043, AC006111, U85962
    Consensus CDS
    CCDS10509.1
    UniProtKB/Swiss-Prot
    Q92793
    Related
    ENSP00000262367.5, ENST00000262367.10
    Conserved Domains (10) summary
    cd05495
    Location:10871194
    Bromo_cbp_like; Bromodomain, cbp_like subfamily. Cbp (CREB binding protein or CREBBP) is an acetyltransferase acting on histone, which gives a specific tag for transcriptional activation and also acetylates non-histone proteins. CREBBP binds specifically to ...
    smart00551
    Location:17661844
    ZnF_TAZ; TAZ zinc finger, present in p300 and CBP
    cd02337
    Location:17051745
    ZZ_CBP; Zinc finger, ZZ type. Zinc finger present in CBP/p300 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. CREB-binding protein (CBP) is a large multidomain protein that ...
    pfam09606
    Location:19862413
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cd15802
    Location:12061278
    RING_CBP-p300; atypical RING domain found in CREB-binding protein and p300 histone acetyltransferases
    cd15557
    Location:12801311
    PHD_CBP_p300; PHD finger found in CREB-binding protein (CBP) and histone acetyltransferase p300
    pfam02135
    Location:363430
    zf-TAZ; TAZ zinc finger
    pfam02172
    Location:587667
    KIX; KIX domain
    pfam08214
    Location:13421649
    HAT_KAT11; Histone acetylation protein
    pfam09030
    Location:20342111
    Creb_binding; Creb binding

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    3725054..3880727 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255124.4XP_005255181.1  CREB-binding protein isoform X2

    Conserved Domains (10) summary
    cd05495
    Location:10721179
    Bromo_cbp_like; Bromodomain, cbp_like subfamily. Cbp (CREB binding protein or CREBBP) is an acetyltransferase acting on histone, which gives a specific tag for transcriptional activation and also acetylates non-histone proteins. CREBBP binds specifically to ...
    smart00551
    Location:17511829
    ZnF_TAZ; TAZ zinc finger, present in p300 and CBP
    cd02337
    Location:16901730
    ZZ_CBP; Zinc finger, ZZ type. Zinc finger present in CBP/p300 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. CREB-binding protein (CBP) is a large multidomain protein that ...
    pfam09606
    Location:19712398
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cd15802
    Location:11911263
    RING_CBP-p300; atypical RING domain found in CREB-binding protein and p300 histone acetyltransferases
    cd15557
    Location:12651296
    PHD_CBP_p300; PHD finger found in CREB-binding protein (CBP) and histone acetyltransferase p300
    pfam02135
    Location:363430
    zf-TAZ; TAZ zinc finger
    pfam02172
    Location:587667
    KIX; KIX domain
    pfam08214
    Location:13271634
    HAT_KAT11; Histone acetylation protein
    pfam09030
    Location:20192096
    Creb_binding; Creb binding
  2. XM_005255125.4XP_005255182.1  CREB-binding protein isoform X4

    Conserved Domains (10) summary
    cd05495
    Location:9481055
    Bromo_cbp_like; Bromodomain, cbp_like subfamily. Cbp (CREB binding protein or CREBBP) is an acetyltransferase acting on histone, which gives a specific tag for transcriptional activation and also acetylates non-histone proteins. CREBBP binds specifically to ...
    smart00551
    Location:16271705
    ZnF_TAZ; TAZ zinc finger, present in p300 and CBP
    cd02337
    Location:15661606
    ZZ_CBP; Zinc finger, ZZ type. Zinc finger present in CBP/p300 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. CREB-binding protein (CBP) is a large multidomain protein that ...
    pfam09606
    Location:18212274
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cd15802
    Location:10671139
    RING_CBP-p300; atypical RING domain found in CREB-binding protein and p300 histone acetyltransferases
    cd15557
    Location:11411172
    PHD_CBP_p300; PHD finger found in CREB-binding protein (CBP) and histone acetyltransferase p300
    pfam02135
    Location:363430
    zf-TAZ; TAZ zinc finger
    pfam02172
    Location:587667
    KIX; KIX domain
    pfam08214
    Location:12031510
    HAT_KAT11; Histone acetylation protein
    pfam09030
    Location:18951972
    Creb_binding; Creb binding
  3. XM_017022944.1XP_016878433.1  CREB-binding protein isoform X1

  4. XM_006720848.3XP_006720911.1  CREB-binding protein isoform X3

    Conserved Domains (10) summary
    cd05495
    Location:10871194
    Bromo_cbp_like; Bromodomain, cbp_like subfamily. Cbp (CREB binding protein or CREBBP) is an acetyltransferase acting on histone, which gives a specific tag for transcriptional activation and also acetylates non-histone proteins. CREBBP binds specifically to ...
    smart00551
    Location:16791757
    ZnF_TAZ; TAZ zinc finger, present in p300 and CBP
    cd02337
    Location:16181658
    ZZ_CBP; Zinc finger, ZZ type. Zinc finger present in CBP/p300 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. CREB-binding protein (CBP) is a large multidomain protein that ...
    pfam09606
    Location:18992326
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cd15802
    Location:12061278
    RING_CBP-p300; atypical RING domain found in CREB-binding protein and p300 histone acetyltransferases
    cd15557
    Location:12801311
    PHD_CBP_p300; PHD finger found in CREB-binding protein (CBP) and histone acetyltransferase p300
    pfam02135
    Location:363430
    zf-TAZ; TAZ zinc finger
    pfam02172
    Location:587667
    KIX; KIX domain
    pfam09030
    Location:19472024
    Creb_binding; Creb binding
    cl02120
    Location:13421562
    HAT_KAT11; Histone acetylation protein
  5. XM_011522381.2XP_011520683.1  CREB-binding protein isoform X5

    Conserved Domains (10) summary
    cd05495
    Location:836943
    Bromo_cbp_like; Bromodomain, cbp_like subfamily. Cbp (CREB binding protein or CREBBP) is an acetyltransferase acting on histone, which gives a specific tag for transcriptional activation and also acetylates non-histone proteins. CREBBP binds specifically to ...
    smart00551
    Location:15151593
    ZnF_TAZ; TAZ zinc finger, present in p300 and CBP
    cd02337
    Location:14541494
    ZZ_CBP; Zinc finger, ZZ type. Zinc finger present in CBP/p300 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. CREB-binding protein (CBP) is a large multidomain protein that ...
    pfam09606
    Location:17352162
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cd15802
    Location:9551027
    RING_CBP-p300; atypical RING domain found in CREB-binding protein and p300 histone acetyltransferases
    cd15557
    Location:10291060
    PHD_CBP_p300; PHD finger found in CREB-binding protein (CBP) and histone acetyltransferase p300
    pfam02135
    Location:112179
    zf-TAZ; TAZ zinc finger
    pfam02172
    Location:336416
    KIX; KIX domain
    pfam08214
    Location:10911398
    HAT_KAT11; Histone acetylation protein
    pfam09030
    Location:17831860
    Creb_binding; Creb binding
  6. XM_011522382.3XP_011520684.1  CREB-binding protein isoform X6

    Conserved Domains (4) summary
    cd05495
    Location:10871194
    Bromo_cbp_like; Bromodomain, cbp_like subfamily. Cbp (CREB binding protein or CREBBP) is an acetyltransferase acting on histone, which gives a specific tag for transcriptional activation and also acetylates non-histone proteins. CREBBP binds specifically to ...
    cd15802
    Location:12061278
    RING_CBP-p300; atypical RING domain found in CREB-binding protein and p300 histone acetyltransferases
    pfam02135
    Location:363430
    zf-TAZ; TAZ zinc finger
    pfam02172
    Location:587667
    KIX; KIX domain
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