TP73是p53基因家族的重要成员,该家族还包括TP53和TP63,它们共同编码转录因子,参与细胞周期调控、DNA修复和凋亡等关键生物学过程。TP73基因通过选择性剪接产生多种异构体(如TAp73和ΔNp73),其中TAp73具有抑癌功能,能激活下游靶基因(如p21、BAX)诱导细胞周期停滞或凋亡;而ΔNp73作为显性负调控因子,会抑制TAp73和p53的功能。TP73在神经系统发育、免疫调节和生殖系统中发挥重要作用,其表达具有组织特异性,例如在脑和睾丸中较高。TP73突变或表达异常与多种癌症相关,过表达TAp73可能增强抗癌效应,但ΔNp73过表达会促进肿瘤进展(如神经母细胞瘤、卵巢癌)。降低TP73表达可能导致发育缺陷或削弱DNA损伤应答。该基因的启动子甲基化或拷贝数变异也会影响其功能。p53家族基因的共性是均含DNA结合结构域,通过四聚化发挥作用,但各自又有独特功能:TP53主攻应激响应,TP63侧重上皮发育,TP73则更多参与神经分化。需要注意的是,TP73的某些异构体(如TAp73β)还能调控代谢相关基因(如GLUT1)。目前"异构体"(isoform)和"显性负调控"(dominant-negative)等术语的中文翻译存在争议,部分文献仍保留英文原词。
This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011]
该基因编码的p53家族参与向应力和发展细胞应答的转录因子的成员。它映射到对染色体1p36区域是神经母细胞瘤等肿瘤频繁删除,并认为含有多肿瘤抑制基因。该基因是monoallelically表示的示范(可能从母体等位基因),支持的概念,它是对神经母细胞瘤的候选基因。从选择性剪接和/或使用替代型启动子的导致许多转录物的变体已被发现对于此基因,但生物有效性和某些变体的全长性质尚未确定。 [由RefSeq的,2011年2月提供]
TP73基因(以及对应的蛋白质)的细胞分布位置:
TP73基因的本体(GO)信息:
名称 |
---|
4390 Hippo signaling pathway [PATH:hsa04390] |
4115 p53 signaling pathway [PATH:hsa04115] |
4722 Neurotrophin signaling pathway [PATH:hsa04722] |
5162 Measles [PATH:hsa05162] |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Alveolar rhabdomyosarcoma | 0.12 | 1 | 0 | CTD_human |
Small cell carcinoma of lung | 0.12 | 0 | 0 | ORPHANET |
Adult T-Cell Lymphoma/Leukemia | 0.12 | 1 | 0 | CTD_human |
Neurologic Manifestations | 0.08 | 1 | 0 | CTD_mouse |
Congenital neurologic anomalies | 0.08 | 1 | 0 | CTD_mouse |
OTITIS MEDIA, SUSCEPTIBILITY TO (finding) | 0.08 | 0 | 0 | MGD |
Squamous cell carcinoma | 0.024066026 | 16 | 0 | BeFree_GAD_LHGDN |
Malignant neoplasm of lung | 0.023279326 | 21 | 1 | BeFree_GAD |
Carcinogenesis | 0.016557954 | 61 | 2 | BeFree |
Neuroblastoma | 0.011681932 | 33 | 0 | BeFree_LHGDN |
关注微信订阅号,实时查看信息,关注医学生物学动态。