TFDP1(转录因子Dp-1)属于E2F转录因子家族中的DP亚家族,该家族成员(如TFDP1和TFDP2)通常与E2F蛋白形成异源二聚体,共同调控细胞周期相关基因的表达。E2F/DP复合物是细胞周期进程的核心调控因子,主要作用于G1/S期转换,通过结合特定DNA序列激活或抑制下游靶基因(如Cyclin E、CDK2等),从而影响细胞增殖、分化和凋亡。TFDP1的生物学功能依赖于与E2F的结合,其表达产物本身不具备DNA结合能力,但能增强E2F的稳定性和转录活性。 若TFDP1发生突变(如错义突变或缺失),可能导致E2F/DP复合物功能异常,进而扰乱细胞周期调控。例如,某些癌症中TFDP1的扩增或过表达会过度激活E2F靶基因,促进细胞不受控增殖;而TFDP1表达降低则可能阻碍细胞进入S期,导致发育缺陷或组织再生障碍。该基因与多种疾病相关,包括视网膜母细胞瘤(与RB1-E2F通路失调有关)、肺癌和乳腺癌(常伴随TFDP1拷贝数增加)。 在基因家族层面,DP亚家族的共性包括:含有保守的DNA结合域和二聚化域,依赖与E2F合作调控靶基因,且成员间存在功能冗余(例如TFDP2可部分补偿TFDP1缺失)。过表达TFDP1可能通过增强E2F活性加速肿瘤发生,而敲低其表达或使用抑制剂(如小分子干扰E2F/DP相互作用)已成为抗癌策略的研究方向。需注意的是,TFDP1的功能高度依赖细胞类型和上下文,例如在某些干细胞中它对维持静息状态至关重要。术语方面,"异源二聚体"(heterodimer)指由两种不同蛋白组成的复合物,"拷贝数增加"(copy number gain)表示基因在基因组中重复导致过量表达。
This gene encodes a member of a family of transcription factors that heterodimerize with E2F proteins to enhance their DNA-binding activity and promote transcription from E2F target genes. The encoded protein functions as part of this complex to control the transcriptional activity of numerous genes involved in cell cycle progression from G1 to S phase. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1, 15, and X.[provided by RefSeq, Jan 2009]
该基因编码一个家族的与E2F蛋白异源二聚体,以提高它们的DNA结合活性和从E2F靶基因促进转录的转录因子的成员。所编码的蛋白质的功能,因为这复杂的控制参与细胞周期进展从G1期进入S期众多基因的转录活性的一部分。选择性剪接结果在多个抄本变形。该基因的假基因在染色体15 1,发现和X. [由RefSeq的,2009年1月提供]
TFDP1基因(以及对应的蛋白质)的细胞分布位置:
TFDP1基因的本体(GO)信息:
名称 |
---|
4350 TGF-beta signaling pathway [PATH:hsa04350] |
4110 Cell cycle [PATH:hsa04110] |
名称 |
---|
Activation of BH3-only proteins |
Activation of NOXA and translocation to mitochondria |
Activation of PUMA and translocation to mitochondria |
Apoptosis |
Cell Cycle |
Cell Cycle, Mitotic |
Cellular responses to stress |
Cellular Senescence |
Cyclin D associated events in G1 |
E2F mediated regulation of DNA replication |
G0 and Early G1 |
G1 Phase |
G1/S Transition |
G1/S-Specific Transcription |
Gene Expression |
Generic Transcription Pathway |
Inhibition of replication initiation of damaged DNA by RB1/E2F1 |
Intrinsic Pathway for Apoptosis |
Mitotic G1-G1/S phases |
Oncogene Induced Senescence |
Oxidative Stress Induced Senescence |
Pre-NOTCH Expression and Processing |
Pre-NOTCH Transcription and Translation |
Programmed Cell Death |
Signaling by NOTCH |
Signaling by TGF-beta Receptor Complex |
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription |
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Juvenile arthritis | 0.12 | 1 | 0 | CTD_human |
Liver carcinoma | 0.006534468 | 4 | 0 | BeFree_LHGDN |
Lymphoma, Non-Hodgkin | 0.00272435 | 1 | 0 | LHGDN |
Malignant neoplasm of ovary | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
Carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of lung | 0.000542884 | 2 | 0 | BeFree |
Squamous cell carcinoma | 0.000542884 | 2 | 0 | BeFree |
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