TOP1 (DNA topoisomerase I)
- symbol:
- TOP1
- locus group:
- protein-coding gene
- location:
- 20q12
- gene_family:
- alias symbol:
- None
- alias name:
- Scl-70 antigen
- entrez id:
- 7150
- ensembl gene id:
- ENSG00000198900
- ucsc gene id:
- uc002xjl.4
- refseq accession:
- NM_003286
- hgnc_id:
- HGNC:11986
- approved reserved:
- 1989-02-23
TOP1（拓扑异构酶I，Topoisomerase I）是一种关键的DNA代谢酶，属于拓扑异构酶家族（Topoisomerase family），该家族通过暂时切断DNA链以调节其超螺旋状态，从而参与DNA复制、转录和修复等过程。TOP1的主要功能是催化DNA单链的断裂和重新连接，通过形成短暂的“切割复合物”来释放DNA的扭转应力，确保遗传信息的准确传递。其作用位点集中在DNA的磷酸二酯键，尤其活跃于转录活跃区域或复制叉附近。若TOP1发生突变（如活性位点突变），可能导致DNA断裂无法修复，引发基因组不稳定，甚至与癌症（如结直肠癌）或神经退行性疾病相关。TOP1的过表达常见于多种肿瘤，因其促进癌细胞快速增殖所需的DNA解旋，但也会增加化疗药物（如伊立替康）的靶向性，这类药物通过稳定TOP1-DNA复合物导致癌细胞凋亡。相反，TOP1表达降低可能影响正常细胞的DNA修复能力，导致发育缺陷或加速衰老。TOP1家族成员（如TOP2）均具有相似的DNA解旋机制，但TOP1仅作用于单链，而TOP2切割双链。该家族共性为依赖酪氨酸残基暂时与DNA共价结合，形成可逆的“酶-DNA中间体”。此外，TOP1的活性受细胞内氧化状态及表观遗传修饰（如乙酰化）调控，其异常表达还可能干扰其他基因（如p53）的功能，间接影响细胞周期或凋亡通路。
This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008]
Gene Ontology
Subcellular localization of TOP1 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for TOP1:
| Interacting Gene | Interaction | Source/Score |
| Disease | Score | NofPmids | NofSnps | Source |
| Adverse reaction to drug | 0.12 | 1 | 0 | CTD_human |
| Glioblastoma | 0.003538676 | 3 | 0 | BeFree_LHGDN |
| Carcinosarcoma | 0.00272435 | 1 | 0 | LHGDN |
| Lung Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Osteosarcoma | 0.00272435 | 1 | 0 | LHGDN |
| Cessation of life | 0.00272435 | 1 | 0 | LHGDN |
| Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Infection | 0.00272435 | 1 | 0 | LHGDN |
| Squamous Cell Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
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