EP300(也称为p300)是一种重要的转录辅激活因子,属于CREB结合蛋白(CBP)/p300基因家族。这个家族的成员在调控基因表达、染色质重塑和细胞信号转导中发挥核心作用。EP300通过其组蛋白乙酰转移酶(HAT)活性修饰染色质结构,促进转录因子与DNA的结合,从而激活多种基因的表达。它参与多种生物学过程,包括细胞增殖、分化、凋亡、DNA修复和免疫反应。EP300与多种转录因子(如p53、NF-κB和STAT3)相互作用,调控细胞周期和应激反应。EP300的突变或功能异常与多种疾病相关,包括癌症(如结直肠癌、乳腺癌和白血病)、神经发育障碍(如Rubinstein-Taybi综合征)和心血管疾病。突变可能导致其HAT活性丧失或与转录因子的结合能力下降,从而影响基因表达调控。EP300过表达可能促进肿瘤发生,因其可激活促增殖和抗凋亡基因;而表达降低可能导致发育缺陷或免疫功能障碍,因其参与胚胎发育和免疫细胞活化。EP300与CBP功能高度相似,两者在胚胎发育中部分冗余,但某些特定功能不可替代。该基因家族成员均含有多个功能域,如HAT域、溴结构域和蛋白相互作用域,介导其广泛的调控作用。
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EP300基因(以及对应的蛋白质)的细胞分布位置:
EP300基因的本体(GO)信息:
| 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 |
|---|
| Attenuation phase |
| BMAL1:CLOCK,NPAS2 activates circadian gene expression |
| C-type lectin receptors (CLRs) |
| CD209 (DC-SIGN) signaling |
| Cell Cycle |
| Cell Cycle, Mitotic |
| 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 |
| G2/M Transition |
| 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 |
| Mitotic G2-G2/M phases |
| NOTCH1 Intracellular Domain Regulates Transcription |
| NOTCH2 intracellular domain regulates transcription |
| Polo-like kinase mediated events |
| PPARA activates gene expression |
| Pre-NOTCH Expression and Processing |
| Pre-NOTCH Transcription and Translation |
| 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 NOTCH2 |
| Signaling by Wnt |
| TCF dependent signaling in response to WNT |
| TRAF3-dependent IRF activation pathway |
| TRAF6 mediated IRF7 activation |
| Transcriptional regulation of white adipocyte differentiation |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| RUBINSTEIN-TAYBI SYNDROME 2 | 0.24 | 0 | 5 | CLINVAR_ORPHANET |
| Rubinstein-Taybi Syndrome | 0.129248887 | 14 | 0 | BeFree_CTD_human_LHGDN |
| Mammary Neoplasms | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
| Endometrial Neoplasms | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
| Colon Carcinoma | 0.120814326 | 3 | 2 | BeFree_CLINVAR |
| melanoma | 0.120271442 | 1 | 0 | BeFree_CTD_human |
| Carcinoma, Transitional Cell | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Obesity | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Stevens-Johnson Syndrome | 0.12 | 1 | 0 | CTD_human |
| Squamous cell carcinoma of esophagus | 0.12 | 2 | 0 | CTD_human |
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