NUP133 (nucleoporin 133)
- symbol:
- NUP133
- locus group:
- protein-coding gene
- location:
- 1q42.13
- gene_family:
- minor histocompatibility antigens
- alias symbol:
- FLJ10814
- alias name:
- None
- entrez id:
- 55746
- ensembl gene id:
- ENSG00000069248
- ucsc gene id:
- uc001htn.4
- refseq accession:
- NM_018230
- hgnc_id:
- HGNC:18016
- approved reserved:
- 2002-01-18
NUP133是核孔复合体（NPC）的重要组成部分，属于核孔蛋白（Nups）基因家族，具体属于Nup107-160亚复合体。核孔复合体是镶嵌在核膜上的大型蛋白质复合物，负责调控细胞核与细胞质之间的物质运输，包括RNA、蛋白质和其他大分子的双向转运。NUP133与其他核孔蛋白共同维持核孔的结构完整性，并参与有丝分裂过程中纺锤体的组装和核膜的重建。NUP133的突变或表达异常可能导致核转运功能障碍，影响基因表达调控和细胞周期进程。研究发现，NUP133的突变与某些遗传性疾病相关，如肾小球病和早发性心房颤动，这可能与其在维持核膜结构和功能中的作用有关。NUP133过表达可能导致核孔复合体组装异常，影响核质运输效率，进而干扰细胞正常的信号传导和基因表达；而降低表达则可能破坏核孔复合体的稳定性，导致细胞分裂缺陷和基因组不稳定。NUP133所属的Nup107-160亚复合体在进化上高度保守，其成员在核孔复合体的组装、锚定和功能中发挥核心作用，共同参与维持核膜完整性和物质运输的精确调控。该基因家族成员通常具有多个蛋白相互作用域，能够与其他核孔蛋白或转运因子结合，协同完成核质运输任务。NUP133的功能研究不仅有助于理解核孔复合体的工作机制，也为相关疾病的诊断和治疗提供了潜在靶点。
The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]
核膜创建不同的核和真核细胞的细胞质车厢。它由通过核孔穿孔两个同心膜中，形成水性通道大蛋白质复合物以调节细胞核与细胞质之间的大分子的流动。这些配合物是由至少100个不同的多肽亚基，其中许多属于核孔蛋白家族。由该基因显示编码的核孔蛋白的蛋白质进化上保守的与其他核孔蛋白相互作用。该蛋白质，这在相间定位于核孔复合的两侧上，仍然有丝分裂期间的复杂关联的，并定位于早期阶段重整核膜。这种蛋白质也定位于有丝分裂细胞的着丝粒。 [由RefSeq的，2008年7月提供]
基因本体信息
NUP133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
NUP133基因的本体（GO）信息：
| 名称 |
|---|
| 3013 RNA transport [PATH:hsa03013] |
| 名称 |
|---|
| Antiviral mechanism by IFN-stimulated genes |
| Cell Cycle |
| Cell Cycle, Mitotic |
| Cellular response to heat stress |
| Cellular responses to stress |
| Cytokine Signaling in Immune system |
| Disease |
| Export of Viral Ribonucleoproteins from Nucleus |
| Gene Expression |
| Glucose transport |
| Hexose transport |
| HIV Infection |
| HIV Life Cycle |
| Host Interactions of HIV factors |
| Immune System |
| Infectious disease |
| Influenza Infection |
| Influenza Life Cycle |
| Influenza Viral RNA Transcription and Replication |
| Interactions of Rev with host cellular proteins |
| Interactions of Vpr with host cellular proteins |
| Interferon Signaling |
| ISG15 antiviral mechanism |
| Late Phase of HIV Life Cycle |
| M Phase |
| Metabolism of carbohydrates |
| Metabolism of non-coding RNA |
| Metabolism of proteins |
| Mitotic Anaphase |
| Mitotic Metaphase and Anaphase |
| Mitotic Prometaphase |
| Mitotic Prophase |
| NEP/NS2 Interacts with the Cellular Export Machinery |
| Nuclear Envelope Breakdown |
| Nuclear import of Rev protein |
| Nuclear Pore Complex (NPC) Disassembly |
| Post-translational protein modification |
| Processing of Capped Intron-Containing Pre-mRNA |
| Regulation of Glucokinase by Glucokinase Regulatory Protein |
| Regulation of HSF1-mediated heat shock response |
| Regulatory RNA pathways |
| 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 |
| SLC-mediated transmembrane transport |
| snRNP Assembly |
| SUMO E3 ligases SUMOylate target proteins |
| SUMOylation |
| SUMOylation of DNA damage response and repair proteins |
| Transcriptional regulation by small RNAs |
| Transmembrane transport of small molecules |
| Transport of Mature mRNA derived from an Intron-Containing Transcript |
| Transport of Mature mRNA Derived from an Intronless Transcript |
| Transport of Mature mRNAs Derived from Intronless Transcripts |
| Transport of Mature Transcript to Cytoplasm |
| Transport of Ribonucleoproteins into the Host Nucleus |
| Transport of the SLBP Dependant Mature mRNA |
| Transport of the SLBP independent Mature mRNA |
| Viral Messenger RNA Synthesis |
| Vpr-mediated nuclear import of PICs |
联系方式
山东省济南市章丘区文博路2号 齐鲁师范学院 genelibs生信实验室
山东省济南市高新区舜华路750号大学科技园北区F座4单元2楼
电话： 0531-88819269
E-mail: product@genelibs.com
微信公众号
关注微信订阅号，实时查看信息，关注医学生物学动态。
版权所有 © 2025.Genelibs 济南弘晖生物技术有限公司 鲁ICP备13024435号-2
