CREBBP Gene

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CREBBP Gene

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CREBBP Gene

Introduction

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">CREBBP Gene</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>CREBBP</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>CREB Binding Protein</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>16p13.3</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>1387</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>600140</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000105383</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>Q92793 (CREBBP)</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/amyotrophic-lateral-sclerosis" style="color:#ef9a9a">Amyotrophic Lateral Sclerosis</a>, <a href="/wiki/cancer" style="color:#ef9a9a">Cancer</a>, <a href="/wiki/carcinoma" style="color:#ef9a9a">Carcinoma</a>, <a href="/wiki/colorectal-cancer" style="color:#ef9a9a">Colorectal Cancer</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">374 edges</a></td>
</tr>
</table>

Crebbp Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

...

CREBBP Gene

Introduction

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">CREBBP Gene</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>CREBBP</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>CREB Binding Protein</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>16p13.3</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>1387</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>600140</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000105383</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>Q92793 (CREBBP)</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/amyotrophic-lateral-sclerosis" style="color:#ef9a9a">Amyotrophic Lateral Sclerosis</a>, <a href="/wiki/cancer" style="color:#ef9a9a">Cancer</a>, <a href="/wiki/carcinoma" style="color:#ef9a9a">Carcinoma</a>, <a href="/wiki/colorectal-cancer" style="color:#ef9a9a">Colorectal Cancer</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">374 edges</a></td>
</tr>
</table>

Crebbp Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

CREBBP (CREB Binding Protein) is a transcriptional coactivator that acetylates histones and transcription factors. It plays essential roles in learning, memory, and neuronal survival. Mutations cause Rubinstein-Taybi syndrome and implicate the gene in Alzheimer's and Huntington's diseases. [@kalkhoven2004]

Gene Information

Normal Function

CREBBP encodes a histone acetyltransferase (HAT) that:

Acetylates histones H3/H4 to open chromatin
Acetylates transcription factors (p53, [NF-κB](/entities/nf-kb), CREB)
Functions as transcriptional coactivator
Essential for:
Learning and memory
Synaptic plasticity
Neuronal survival
Embryonic development
Interacts with CBP (they are the same protein)

Disease Associations

Alzheimer's Disease

CREBBP/CBP levels decline in AD brain
Essential for memory consolidation
Acetylates [tau](/proteins/tau) and reduces aggregation
May be therapeutic target

Huntington's Disease

Mutant [huntingtin](/proteins/huntingtin-protein) sequesters CREBBP
Contributes to transcriptional dysregulation
Restoring CREBBP function is therapeutic strategy

Rubinstein-Taybi Syndrome

Heterozygous CREBBP mutations cause RTS
Intellectual disability, distinctive features
Haploinsufficiency

Expression

CREBBP is expressed in:

Brain: [Cortex](/brain-regions/cortex), [hippocampus](/brain-regions/hippocampus), cerebellum
Ubiquitously in peripheral tissues
Nuclear localization

Therapeutic Implications

[HDAC](/entities/hdac-enzymes) inhibitors: Increase histone acetylation
CBP activators: Under development
Gene therapy: AAV-CREBBP for neuroprotection

Expression Pattern

CREBBP shows broad expression across tissues:

Brain: High in cerebral cortex, hippocampus (CA1-CA3), cerebellum (Purkinje cells)
[Neurons](/entities/neurons): Expressed in most neuronal subtypes including pyramidal cells, interneurons
Glia: Present in [astrocytes](/entities/astrocytes) and [microglia](/entities/microglia)
Peripheral: Liver (highest), kidney, heart, lung, skeletal muscle

Molecular Function

CREBBP (CREB-binding protein) is a master transcriptional coactivator:

Histone Acetyltransferase (HAT) Activity:

Acetylates histone H3K27, H3K9
Remodels chromatin for transcription
HAT activity required for learning/memory

Transcriptional Coactivator:

Interacts with CREB, p53, NF-κB, HIF-1α
Bridges transcription factors to basal machinery
Essential for activity-dependent gene expression

CRD Complex (CBP/p300):

Forms heterodimers with p300
Multiple domains for protein interactions
Bromodomain recognizes acetyl-lysine

Signal Integration:

Integrates cAMP, calcium, growth factor signals
Coordinates transcriptional responses
Dysregulation affects neuroplasticity

Role in Neurodegeneration

[Alzheimer's Disease](/diseases/alzheimers-disease): Reduced CBP in neurons, therapeutic potential
Huntington's Disease: Mutant [HTT](/genes/htt) sequesters CBP
FTD/ALS: [TDP-43](/proteins/tdp-43) affects CBP function

Animal Models

Key findings from model systems:

Heterozygous knockout mice: Viable, model for Rubinstein-Taybi syndrome
Neuron-specific knockouts: Severe memory deficits, impaired [LTP](/mechanisms/long-term-potentiation)
Conditional knockouts: Reversible deficits
Knock-in models: Disease-causing mutations recapitulate phenotype
Rescue studies: Demonstrate CBP haploinsufficiency role

Therapeutic Implications

CREBBP is a therapeutic target:

HDAC inhibitors: Increase histone acetylation, may compensate
Small molecule activators: HAT activity enhancers in development
Gene therapy: AAV-CREBBP delivery being explored
Combination approaches: With neurotrophic factors

Key Publications

Rouaux C, et al. (2004) CBP loss induces transcriptional dysregulation in Huntington's disease. EMBO J 23:3143-3153. PMID: 15241480(https://pubmed.ncbi.nlm.nih.gov/15241480/)

Valor LM, et al. (2013) Selective contributions of CBP and p300 to Huntington's disease. Nat Neurosci 16:1291-1300. PMID: 23911789(https://pubmed.ncbi.nlm.nih.gov/23911789/)

External Links

[NCBI Gene: CREBBP](https://www.ncbi.nlm.nih.gov/gene/1387)
[UniProt: CREBBP](https://www.uniprot.org/uniprot/Q92793)

Background

The study of Crebbp Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

References

[@goodman2000]: Goodman RH, Smolik S. (2000). CBP/p300 in cell growth, transformation, and development. Genes Dev. 14(13):1553-1577. PMID: 10859150(https://pubmed.ncbi.nlm.nih.gov/10859150/)

[@kalkhoven2004]: Kalkhoven E. (2004). CBP and p300: HATs for different occasions. Biochem Pharmacol. 68(6):1145-1155. PMID: 15313432(https://pubmed.ncbi.nlm.nih.gov/15313432/)

[@veitia2003]: Veitia RA. (2003). Balancing acts: the role of transcriptional coactivators in disease. Trends Genet. 19(5):263-268. PMID: 12711215(https://pubmed.ncbi.nlm.nih.gov/12711215/)

Pathway Diagram

Mermaid diagram (expand to render)

Pathway Diagram

The following diagram shows the key molecular relationships involving CREBBP Gene discovered through SciDEX knowledge graph analysis:

Mermaid diagram (expand to render)

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Related Entities

CREBBP

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kg_node_id	CREBBP
entity_type	gene
origin_type	v1_polymorphic_backfill
source_table	wiki_pages
wiki_page_id	wp-d93742f80864
__merged_from	{'merged_at': '2026-05-13', 'unprefixed_id': 'genes-crebbp'}
_schema_version	1

📊 Evidence Profile Foundational

Evidence Balance

+0%

Certainty

100%

Debates

0

Incoming

32

Outgoing

32

0 supporting 0 contradicting 0 neutral

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📗 Cite This Artifact

CREBBP Gene

CREBBP Gene

Introduction

CREBBP Gene

Introduction

Overview

Gene Information

Normal Function

Disease Associations

Alzheimer's Disease

Huntington's Disease

Rubinstein-Taybi Syndrome

Expression

Therapeutic Implications

Expression Pattern

Molecular Function

Role in Neurodegeneration

Animal Models

Therapeutic Implications

Key Publications

External Links

See Also

Background

References

Pathway Diagram

Pathway Diagram

💬 Discussion