NUP214 (nucleoporin 214)
- symbol:
- NUP214
- locus group:
- protein-coding gene
- location:
- 9q34.13
- gene_family:
- alias symbol:
- CAIN|CAN|D9S46E|N214
- alias name:
- nuclear pore complex protein Nup21…
- entrez id:
- 8021
- ensembl gene id:
- ENSG00000126883
- ucsc gene id:
- uc004cag.4
- refseq accession:
- NM_005085
- hgnc_id:
- HGNC:8064
- approved reserved:
- 1999-05-05
NUP214（核孔蛋白214）是一种重要的核孔复合体蛋白，属于核孔蛋白（NUP）基因家族，该家族成员共同参与构成核孔复合体（NPC），负责调控细胞核与细胞质之间的物质运输，包括RNA和蛋白质的转运。NUP214位于人类7号染色体（7q11.23），编码的蛋白是核孔复合体的组成部分，主要定位于核膜，在维持核膜结构和选择性运输大分子中起关键作用。NUP214的生物学功能包括参与mRNA出核转运、细胞周期调控以及基因表达调控。该基因的突变或异常表达与多种疾病相关，尤其是急性髓系白血病（AML）和T细胞急性淋巴细胞白血病（T-ALL），其中常见的异常是t(6;9)(p23;q34)染色体易位，导致NUP214与DEK基因融合，形成DEK-NUP214融合蛋白，干扰正常细胞分化并促进白血病发生。此外，NUP214还与病毒感染（如HIV）的核转运过程有关。如果NUP214过表达，可能破坏核孔复合体的正常功能，导致细胞周期紊乱或癌变；而降低表达则可能影响核质运输效率，导致细胞功能异常。NUP214基因家族（核孔蛋白家族）的共性在于它们均参与核孔复合体的组装和功能维持，调控核质间运输，并在细胞分裂、基因表达和信号转导中发挥作用。该家族成员通常具有重复的苯丙氨酸-甘氨酸（FG）结构域，介导运输因子结合。NUP214的异常不仅影响自身功能，还可能干扰其他核孔蛋白（如NUP98）的功能，进一步加剧疾病表型。研究NUP214有助于理解核转运机制及其在癌症和病毒感染中的作用，为靶向治疗提供潜在方向。
The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. [provided by RefSeq, Jul 2008]
的核孔复合是跨核膜延伸，形成一种调节细胞核与细胞质之间的大分子的流程的网关大规模结构。核孔蛋白是在真核细胞的核孔复合物的主要组成部分。该基因是在含FG重复-核孔蛋白的成员。由该基因编码的蛋白质被定位到它需要适当的细胞周期进展和核质运输核孔复合物的胞质面。此基因的3‘部分形成与急性骨髓性白血病和骨髓增生异常综合征相关叔（6,9-）易位染色体6上的DEK基因的融合基因。 [由RefSeq的，2008年7月提供]
基因本体信息
NUP214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
NUP214基因的本体（GO）信息：
| 名称 |
|---|
| 3013 RNA transport [PATH:hsa03013] |
| 5169 Epstein-Barr virus infection [PATH:hsa05169] |
| 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 |
| HuR stabilizes mRNA |
| 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 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 |
| Regulation of mRNA stability by proteins that bind AU-rich elements |
| Regulatory RNA pathways |
| Rev-mediated nuclear export of HIV RNA |
| 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 |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Leukemia, Myelocytic, Acute | 0.124895885 | 9 | 0 | BeFree_CTD_human_LHGDN |
| leukemia | 0.005710211 | 12 | 0 | BeFree_LHGDN |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.003528744 | 13 | 0 | BeFree |
| Breast Carcinoma | 0.002714419 | 10 | 0 | BeFree |
| Malignant neoplasm of breast | 0.002442977 | 9 | 0 | BeFree |
| HIV Infections | 0.002442977 | 9 | 0 | BeFree |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Neoplasm Metastasis | 0.001628651 | 6 | 0 | BeFree |
| Hepatitis B | 0.001357209 | 5 | 0 | BeFree |
| melanoma | 0.001357209 | 5 | 0 | BeFree |
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