XPO1 (exportin 1)
- symbol:
- XPO1
- locus group:
- protein-coding gene
- location:
- 2p15
- gene_family:
- Exportins
- alias symbol:
- CRM1|CRM-1|emb
- alias name:
- chromosome region maintenance 1 ho…
- entrez id:
- 7514
- ensembl gene id:
- ENSG00000082898
- ucsc gene id:
- uc002sbj.4
- refseq accession:
- NM_003400
- hgnc_id:
- HGNC:12825
- approved reserved:
- 1998-05-12
XPO1（Exportin 1，输出蛋白1）是一种关键的核质转运蛋白，属于karyopherin-β（核转运蛋白β）家族成员，负责将含有核输出信号（NES，nuclear export signal）的蛋白质和RNA从细胞核运输到细胞质。XPO1通过识别并结合货物蛋白上的NES，在RanGTP（一种小GTP酶）的协助下完成转运过程。其表达产物在细胞周期调控、应激反应、免疫功能和肿瘤发生中起重要作用，主要作用位点为核孔复合体（NPC，nuclear pore complex）。XPO1的功能突变（如E571K）会导致其与NES结合能力增强，引发多种癌症相关蛋白（如p53、BRCA1）的异常核输出，促进肿瘤进展。该基因与多种疾病相关，包括白血病、淋巴瘤、实体瘤（如卵巢癌和胶质母细胞瘤）以及自身免疫性疾病（如类风湿关节炎）。XPO1过表达会加速抑癌蛋白的核外排，导致细胞增殖失控和凋亡抑制；而降低表达（如使用抑制剂Selinexor）可恢复抑癌蛋白的核内定位，抑制肿瘤生长，但可能影响正常细胞的RNA转运。XPO1所属的karyopherin-β家族共有约20个成员，共性是通过RanGTPase循环实现双向核质运输，成员间通过识别不同信号序列（如NES或NLS，核定位信号）特异性转运不同底物。目前"Exportin 1"的中文译名存在争议，也有文献称为"染色体区域稳定蛋白1（CRM1）"，但CRM1易与酵母基因混淆，推荐使用XPO1。
This cell-cycle-regulated gene encodes a protein that mediates leucine-rich nuclear export signal (NES)-dependent protein transport. The protein specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellular processes by controlling the localization of cyclin B, MPAK, and MAPKAP kinase 2. This protein also regulates NFAT and AP-1. [provided by RefSeq, Jan 2015]
此细胞周期调节的基因编码介导富含亮氨酸的核输出信号（NES）依赖性蛋白转运的蛋白。该蛋白特异性抑制牧师和U snRNAs的核出口。它是通过控制细胞周期蛋白B，MPAK和MAPKAP激酶2，该蛋白也调节NFAT和AP-1的定位涉及几个细胞过程的控制。 [由RefSeq的，2015年1月提供]
基因本体信息
XPO1基因（以及对应的蛋白质）的细胞分布位置：
- 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
XPO1基因的本体（GO）信息：
| 名称 |
|---|
| 3013 RNA transport [PATH:hsa03013] |
| 3008 Ribosome biogenesis in eukaryotes [PATH:hsa03008] |
| 5166 HTLV-I infection [PATH:hsa05166] |
| 5164 Influenza A [PATH:hsa05164] |
| 5169 Epstein-Barr virus infection [PATH:hsa05169] |
| 名称 |
|---|
| Cell Cycle |
| Cell Cycle, Mitotic |
| Cyclin A/B1 associated events during G2/M transition |
| deactivation of the beta-catenin transactivating complex |
| Disease |
| Downregulation of TGF-beta receptor signaling |
| Export of Viral Ribonucleoproteins from Nucleus |
| G2/M Transition |
| Gene Expression |
| HIV Infection |
| HIV Life Cycle |
| Host Interactions of HIV factors |
| HuR stabilizes mRNA |
| Infectious disease |
| Influenza Infection |
| Influenza Life Cycle |
| Interactions of Rev with host cellular proteins |
| Late Phase of HIV Life Cycle |
| M Phase |
| Mitotic Anaphase |
| Mitotic G2-G2/M phases |
| Mitotic Metaphase and Anaphase |
| Mitotic Prometaphase |
| NEP/NS2 Interacts with the Cellular Export Machinery |
| Regulation of mRNA stability by proteins that bind AU-rich elements |
| Resolution of Sister Chromatid Cohesion |
| Rev-mediated nuclear export of HIV RNA |
| RHO GTPase Effectors |
| RHO GTPases Activate Formins |
| Separation of Sister Chromatids |
| Signaling by Rho GTPases |
| Signaling by TGF-beta Receptor Complex |
| Signaling by Wnt |
| TCF dependent signaling in response to WNT |
| TGF-beta receptor signaling activates SMADs |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Hepatitis B | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Osteosarcoma | 0.00272435 | 1 | 0 | LHGDN |
| Fanconi Anemia | 0.00272435 | 1 | 0 | LHGDN |
| Tuberculosis | 0.002367032 | 1 | 1 | GAD |
| HIV Infections | 0.001357209 | 5 | 0 | BeFree |
| Leukemia, Myelocytic, Acute | 0.001085767 | 4 | 0 | BeFree |
| melanoma | 0.000814326 | 3 | 0 | BeFree |
| Ovarian Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.000814326 | 3 | 0 | BeFree |
| Chronic Lymphocytic Leukemia | 0.000814326 | 3 | 0 | BeFree |
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