CREBBP基因详情-基因数据库-基因云馆

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CREBBP (CREB binding protein)

symbol:: CREBBP
locus group:: protein-coding gene
location:: 16p13.3
gene_family:: K(lysine) acetyltransferases
alias symbol:: RTS|CBP|KAT3A
alias name:: None
entrez id:: 1387
ensembl gene id:: ENSG00000005339
ucsc gene id:: uc002cvv.4
refseq accession:: NM_004380
hgnc_id:: HGNC:2348
approved reserved:: 1995-01-10

16p13.3

CREBBP（CREB结合蛋白）基因位于人类16号染色体上，属于CBP/p300基因家族。这个家族的特点是编码具有组蛋白乙酰转移酶（HAT）活性的转录共激活因子，能够通过乙酰化组蛋白和其他转录因子来调节基因表达。CREBBP蛋白含有多个功能域，包括与CREB（cAMP反应元件结合蛋白）相互作用的KIX结构域、HAT结构域和溴结构域，这些结构域使其能够参与多种信号通路的调控。CREBBP在细胞分化、增殖、凋亡以及学习和记忆等神经功能中发挥关键作用。它通过与多种转录因子（如p53、NF-κB和STAT）相互作用，调控下游靶基因的表达。CREBBP突变会导致其功能丧失或异常，与多种疾病相关，如Rubinstein-Taybi综合征（RSTS），患者表现为智力障碍、面部特征异常和生长发育迟缓。此外，CREBBP突变也与某些癌症（如急性髓系白血病和淋巴瘤）的发生有关，因为这些突变可能影响其作为肿瘤抑制因子的功能。当CREBBP过表达时，可能增强其转录共激活功能，促进细胞增殖和存活，甚至在某些情况下促进肿瘤发生。相反，降低CREBBP表达可能导致转录调控失衡，影响正常细胞功能，如神经发育和免疫反应。CREBBP与CBP/p300家族的其他成员（如EP300）在功能上有部分冗余，但各自也有独特的调控靶点和生物学作用。该基因家族的共性包括参与表观遗传调控、整合多种信号通路以及广泛影响发育和疾病过程。

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]

该基因普遍表达，并参与许多不同的转录因子的转录共激活。首先分离出结合于cAMP反应元件结合蛋白（CREB）的核蛋白，该基因是目前已知由染色质重塑耦合到转录因子的识别来在胚胎发育，生长控制和平衡的关键角色。由该基因编码的蛋白质具有固有的组蛋白乙酰转移酶活性和也用作脚手架以稳定与转录复合额外的蛋白质的相互作用。这种蛋白乙酰化既组蛋白和非组蛋白。这种蛋白共享很高的序列相似性的区域，在其布罗莫蛋白P300，富含半胱氨酸 - 组氨酸区域和组蛋白乙酰转移域。突变这个基因导致鲁宾斯坦 - 泰必氏综合症（RTS）。涉及该基因的染色体易位已与急性骨髓性白血病有关。在多个转录剪接变异体导致编码不同亚型。 [由RefSeq的，2009年2月提供]

OMIM数据库中对CREBBP基因的介绍 Wikipedia数据库中对CREBBP基因的介绍

CREBBP基因的碱基序列：[NCBI]

Loading Gene Browser...

CREBBP基因的碱基突变：仅显示部分snp

rs9392 rs121648 rs129962 rs129963 rs129964 rs129965 rs129966 rs129967 rs129968 rs129970 rs129971 rs129972 rs129973 rs129974 rs129975 rs129976 rs129977

CREBBP基因在不同组织中的表达： [UniProt]

正向引物序列

正向Tm值

反向引物序列

反向Tm值

评分

ATGTTCAACAATGCCTGGC

CAAACTGATCCTCTGCAAGC

TGAGACCTCCAAATGGACC

GGACAGAGTGGTTCATTGG

ACATAAACAAGGCATCTTGGG

GAATTCATCCTTGGAGGTCTC

CCAGGTCTGAGATGATGGAG

CTGATTTCTGCTCTGCTATGTC

AAACCAACAAACCATCCTGG

AGAAGTGGCATTCTGTTGC

AACCAAAGCTCTGTTTGCT

GTCACATACCTCGTGTTTGG

AATTCAGTGCTAAGAGGCTG

CAAACCGTGACTTCATCCC

GGATCATCCATGACTACAAGG

ATTGGGCCAGAAATCACCT

CGTTGTGGGTACATTTACAGG

AAGGAGAAATGGCCATCCC

GATGAAGTCACGGTATGTGAC

TTGTACCACTCCTGCAGTC

转录因子

影响基因

影响类型

参考文献链接（PubMed）

CIITA

CREBBP

Unknown

9858618

CREBBP

ALOX15

Activation

12517954

CREBBP

BRCA1

Unknown

23285190

CREBBP

CCK

Unknown

15030385

CREBBP

CDKN1A

Activation

15286705

CREBBP

CREB1

Activation

19564345

CREBBP

CSF2

Unknown

20439113

CREBBP

EGFR

Unknown

21464950

CREBBP

EP300

Unknown

15154850

CREBBP

EZH2

Unknown

25088689

CREBBP基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

质膜
细胞质
细胞外
高尔基体
囊泡
细胞骨架
内质网
细胞核
内体
溶酶体
线粒体

CREBBP基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0003712

I3L0Q1 (UniProtKB)

IEA

GO:0006355

I3L0Q1 (UniProtKB)

IEA

GO:0003712

I3L293 (UniProtKB)

IEA

GO:0006355

I3L293 (UniProtKB)

IEA

GO:0004402

I3L3I5 (UniProtKB)

IEA

GO:0006355

I3L3I5 (UniProtKB)

IEA

GO:0016573

I3L3I5 (UniProtKB)

IEA

GO:0003712

I3L466 (UniProtKB)

IEA

GO:0004402

I3L466 (UniProtKB)

IEA

GO:0006355

I3L466 (UniProtKB)

IEA

GO:0016573

I3L466 (UniProtKB)

IEA

GO:0000122

Q92793 (UniProtKB)

IDA

GO:0000123

Q92793 (UniProtKB)

IEA

GO:0000790

Q92793 (UniProtKB)

IDA

GO:0000987

Q92793 (UniProtKB)

IDA

GO:0001078

Q92793 (UniProtKB)

IDA

GO:0001085

Q92793 (UniProtKB)

IPI

GO:0001102

Q92793 (UniProtKB)

TAS

GO:0001105

Q92793 (UniProtKB)

TAS

GO:0001191

Q92793 (UniProtKB)

IDA

GO:0001666

Q92793 (UniProtKB)

TAS

GO:0002039

Q92793 (UniProtKB)

IPI

GO:0002223

Q92793 (UniProtKB)

TAS

GO:0003682

Q92793 (UniProtKB)

IDA

GO:0003684

Q92793 (UniProtKB)

IDA

GO:0003700

Q92793 (UniProtKB)

TAS

GO:0003713

Q92793 (UniProtKB)

IDA

GO:0003713

Q92793 (UniProtKB)

IDA

GO:0003713

Q92793 (UniProtKB)

IDA

GO:0003713

Q92793 (UniProtKB)

IDA

GO:0003713

Q92793 (UniProtKB)

IPI

GO:0004402

Q92793 (UniProtKB)

IDA

GO:0004871

Q92793 (UniProtKB)

TAS

GO:0004871

Q92793 (UniProtKB)

TAS

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005515

Q92793 (UniProtKB)

IPI

GO:0005634

Q92793 (UniProtKB)

GO:0005634

Q92793 (UniProtKB)

IDA

GO:0005654

Q92793 (UniProtKB)

IDA

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005654

Q92793 (UniProtKB)

TAS

GO:0005667

Q92793 (UniProtKB)

IEA

GO:0005737

Q92793 (UniProtKB)

IDA

GO:0006355

Q92793 (UniProtKB)

IDA

GO:0006355

Q92793 (UniProtKB)

TAS

GO:0006367

Q92793 (UniProtKB)

TAS

GO:0006461

Q92793 (UniProtKB)

TAS

GO:0006473

Q92793 (UniProtKB)

IDA

GO:0007165

Q92793 (UniProtKB)

NAS

GO:0007219

Q92793 (UniProtKB)

TAS

GO:0008134

Q92793 (UniProtKB)

IPI

GO:0008270

Q92793 (UniProtKB)

IEA

GO:0008283

Q92793 (UniProtKB)

IEA

GO:0008589

Q92793 (UniProtKB)

TAS

GO:0016032

Q92793 (UniProtKB)

IEA

GO:0016407

Q92793 (UniProtKB)

IDA

GO:0016407

Q92793 (UniProtKB)

EXP

GO:0016407

Q92793 (UniProtKB)

EXP

GO:0016407

Q92793 (UniProtKB)

IDA

GO:0016573

Q92793 (UniProtKB)

IDA

GO:0016604

Q92793 (UniProtKB)

IDA

GO:0018076

Q92793 (UniProtKB)

IDA

GO:0032481

Q92793 (UniProtKB)

TAS

GO:0034212

Q92793 (UniProtKB)

TAS

GO:0034644

Q92793 (UniProtKB)

IDA

GO:0042592

Q92793 (UniProtKB)

NAS

GO:0042733

Q92793 (UniProtKB)

TAS

GO:0042975

Q92793 (UniProtKB)

IEA

GO:0042981

Q92793 (UniProtKB)

TAS

GO:0043426

Q92793 (UniProtKB)

IDA

GO:0044255

Q92793 (UniProtKB)

TAS

GO:0045893

Q92793 (UniProtKB)

ISS

GO:0045893

Q92793 (UniProtKB)

IDA

GO:0045944

Q92793 (UniProtKB)

IEA

GO:0046332

Q92793 (UniProtKB)

IEA

GO:0048511

Q92793 (UniProtKB)

IEA

GO:0060355

Q92793 (UniProtKB)

IEA

GO:0061418

Q92793 (UniProtKB)

TAS

GO:0070555

Q92793 (UniProtKB)

IEA

GO:0098609

Q92793 (UniProtKB)

IEA

GO:1900034

Q92793 (UniProtKB)

TAS

GO:1900087

Q92793 (UniProtKB)

IEA

GO:1901224

Q92793 (UniProtKB)

IEA

GO:1904837

Q92793 (UniProtKB)

TAS

GO:0003713

Q92793 (UniProtKB)

IDA

可能调控 CREBBP基因的相关microRNA：

hsa-miR-122 hsa-miR-122* hsa-miR-181a hsa-miR-27b hsa-miR-27b* hsa-let-7e hsa-miR-100 hsa-miR-125b hsa-miR-1301 hsa-miR-324-3p

Reactome

MINT

BioGrid

IntAct

mentha

String

序号	作用方式	资源库来源/分值	基因名称	基因名称

KEGG
Reactomepathway

名称
4310 Wnt signaling pathway [PATH:hsa04310]
4330 Notch signaling pathway [PATH:hsa04330]
4350 TGF-beta signaling pathway [PATH:hsa04350]
4630 Jak-STAT signaling pathway [PATH:hsa04630]
4066 HIF-1 signaling pathway [PATH:hsa04066]
4068 FoxO signaling pathway [PATH:hsa04068]
4024 cAMP signaling pathway [PATH:hsa04024]
4110 Cell cycle [PATH:hsa04110]
4520 Adherens junction [PATH:hsa04520]
4922 Glucagon signaling pathway [PATH:hsa04922]
4919 Thyroid hormone signaling pathway [PATH:hsa04919]
4916 Melanogenesis [PATH:hsa04916]
4720 Long-term potentiation [PATH:hsa04720]
5200 Pathways in cancer [PATH:hsa05200]
5206 MicroRNAs in cancer [PATH:hsa05206]
5203 Viral carcinogenesis [PATH:hsa05203]
5211 Renal cell carcinoma [PATH:hsa05211]
5215 Prostate cancer [PATH:hsa05215]
5016 Huntington's disease [PATH:hsa05016]
5152 Tuberculosis [PATH:hsa05152]
5166 HTLV-I infection [PATH:hsa05166]
5164 Influenza A [PATH:hsa05164]
5161 Hepatitis B [PATH:hsa05161]
5168 Herpes simplex infection [PATH:hsa05168]
5169 Epstein-Barr virus infection [PATH:hsa05169]

名称
Activation of gene expression by SREBF (SREBP)
Attenuation phase
BMAL1:CLOCK,NPAS2 activates circadian gene expression
C-type lectin receptors (CLRs)
CD209 (DC-SIGN) signaling
Cellular response to heat stress
Cellular response to hypoxia
Cellular responses to stress
Chromatin modifying enzymes
Chromatin organization
Circadian Clock
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Cytosolic sensors of pathogen-associated DNA
Developmental Biology
Disease
Diseases of signal transduction
Factors involved in megakaryocyte development and platelet production
Fatty acid, triacylglycerol, and ketone body metabolism
formation of the beta-catenin:TCF transactivating complex
Gene Expression
Generic Transcription Pathway
HATs acetylate histones
Hemostasis
HSF1-dependent transactivation
Immune System
Innate Immune System
LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
Metabolism
Metabolism of lipids and lipoproteins
Mitochondrial biogenesis
NICD traffics to nucleus
Notch-HLH transcription pathway
NOTCH1 Intracellular Domain Regulates Transcription
Organelle biogenesis and maintenance
PPARA activates gene expression
Pre-NOTCH Expression and Processing
Pre-NOTCH Transcription and Translation
Regulation of cholesterol biosynthesis by SREBP (SREBF)
Regulation of gene expression by Hypoxia-inducible Factor
Regulation of Hypoxia-inducible Factor (HIF) by oxygen
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
RORA activates gene expression
Signal Transduction
Signaling by NOTCH
Signaling by NOTCH1
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
Signaling by NOTCH1 in Cancer
Signaling by NOTCH1 PEST Domain Mutants in Cancer
Signaling by Wnt
TCF dependent signaling in response to WNT
TRAF3-dependent IRF activation pathway
TRAF6 mediated IRF7 activation
Transcriptional activation of mitochondrial biogenesis
Transcriptional regulation of white adipocyte differentiation
YAP1- and WWTR1 (TAZ)-stimulated gene expression

疾病名称

关系值

NofPmids

NofSnps

来源

疾病名称	关系值	NofPmids	NofSnps	来源
Rubinstein-Taybi Syndrome	0.589289435	52	74	BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT
Lymphoma, Follicular	0.120542884	3	0	BeFree_CTD_human
Prostatic Neoplasms	0.120271442	2	0	BeFree_CTD_human
Squamous cell carcinoma of esophagus	0.120271442	2	0	BeFree_CTD_human
CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL	0.12	0	0	ORPHANET
Bladder Neoplasm	0.12	1	0	CTD_human
Small cell carcinoma of lung	0.12	1	0	CTD_human
Sezary Syndrome	0.12	1	0	CTD_human
Adenoid Cystic Carcinoma	0.12	1	0	CTD_human
Carcinoma, Transitional Cell	0.12	1	0	CTD_human

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更新于2天前

CREBBP (CREB binding protein)

基因基本信息

基因基本信息

基因染色体位置

基因染色体位置

基因简述

基因简述

基因序列

基因序列

基因突变

基因突变

基因表达

基因表达

基因引物

基因引物

转录因子

转录因子

基因本体信息

基因相关microRNA

基因相关microRNA

基因相互作用关系

基因相互作用关系

基因通路

基因通路

基因相关疾病

基因相关疾病

基因相关服务

基因相关服务

联系方式

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