FBXW7 (F-box and WD repeat domain containing 7)
- symbol:
- FBXW7
- locus group:
- protein-coding gene
- location:
- 4q31.3
- gene_family:
- WD repeat domain containing|F-box and WD repeat domain containing
- alias symbol:
- AGO|FLJ11071|SEL-10|SEL10|FBW7|FBX30|CDC4|FBXW6
- alias name:
- archipelago homolog (Drosophila)
- entrez id:
- 55294
- ensembl gene id:
- ENSG00000109670
- ucsc gene id:
- uc003imt.4
- refseq accession:
- NM_001013415
- hgnc_id:
- HGNC:16712
- approved reserved:
- 2001-12-20
FBXW7（F-box and WD repeat domain containing 7）是一个重要的抑癌基因，属于F-box蛋白家族，该家族成员通常作为SCF（Skp1-Cul1-F-box protein）泛素连接酶复合物的组成部分，负责识别并标记特定底物蛋白进行泛素化降解（泛素化是一种给蛋白质打上“销毁标签”的生化过程）。FBXW7的主要功能是通过调控多种关键蛋白的稳定性来参与细胞周期、细胞生长、分化和凋亡等过程。其典型作用位点是靶向降解原癌蛋白如c-Myc、Cyclin E、Notch和mTOR等，这些蛋白若过度积累会导致细胞异常增殖和癌症发生。FBXW7突变常见于多种癌症（如结直肠癌、乳腺癌、白血病），突变会导致其丧失对底物蛋白的降解能力，从而促进肿瘤发展。该基因的过表达通常增强抑癌作用，但可能干扰正常细胞周期；而表达降低则会导致致癌蛋白积累，增加肿瘤风险。FBXW7属于F-box基因家族，该家族共性是通过WD40重复结构域（一种蛋白相互作用模块）特异性识别磷酸化底物，介导SCF复合物的底物选择性。此外，FBXW7还通过调控Notch信号通路影响发育过程，其功能异常可能与神经系统疾病相关。研究表明，FBXW7单核苷酸多态性（SNP，即DNA序列单个碱基的变异）可能影响个体对化疗药物的敏感性。
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
该基因编码在F-box蛋白家族，其特征是一个约40个氨基酸基序，在F-盒的成员。在F-box蛋白组成四个亚基蛋白泛素连接酶复合体称为SCFS（SKP1-滞-F-箱）中的其中一个功能的磷酸化依赖泛素化。在F-box蛋白被分为3类：Fbws含WD-40结构域，含有Fbls富含亮氨酸的重复序列，以及含有任一不同的蛋白质 - 蛋白质相互作用的模块或没有可识别的图案Fbxs。由该基因编码的蛋白质是以前称作FBX30，和属于Fbws类;除了一架F-中，这种蛋白质含有7串联WD40重复。这种蛋白直接结合cyclin E的，可能它面向泛素介导的降解cyclin E的。在这个基因的突变在卵巢癌和乳腺癌细胞系中被检测到，在人类癌症的发病机制暗示该基因的潜在作用。已发现该基因编码不同亚型的多个抄本变形。 [由RefSeq的，2012年3月提供]
基因本体信息
FBXW7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
FBXW7基因的本体（GO）信息：
| 名称 |
|---|
| 4120 Ubiquitin mediated proteolysis [PATH:hsa04120] |
| 名称 |
|---|
| Adaptive Immune System |
| Antigen processing: Ubiquitination & Proteasome degradation |
| Association of TriC/CCT with target proteins during biosynthesis |
| Chaperonin-mediated protein folding |
| Class I MHC mediated antigen processing & presentation |
| Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants |
| Constitutive Signaling by NOTCH1 PEST Domain Mutants |
| Disease |
| Diseases of signal transduction |
| FBXW7 Mutants and NOTCH1 in Cancer |
| Immune System |
| Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling |
| Metabolism of proteins |
| NOTCH1 Intracellular Domain Regulates Transcription |
| Protein folding |
| Signal Transduction |
| Signaling by NOTCH |
| Signaling by NOTCH1 |
| Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer |
| Signaling by NOTCH1 in Cancer |
| Signaling by NOTCH1 PEST Domain Mutants in Cancer |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.137806881 | 25 | 0 | BeFree_CTD_human_GAD |
| Glioma | 0.126534468 | 4 | 0 | BeFree_CTD_human_LHGDN |
| Mammary Neoplasms | 0.122995792 | 2 | 0 | BeFree_CTD_human_LHGDN |
| Squamous cell carcinoma of esophagus | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Genomic Instability | 0.12 | 1 | 0 | CTD_human |
| Adenoid Cystic Carcinoma | 0.12 | 1 | 0 | CTD_human |
| Endometrial Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Carcinogenesis | 0.006786047 | 25 | 1 | BeFree |
| Malignant neoplasm of breast | 0.005352893 | 11 | 0 | BeFree_GAD |
| Pancreatic Neoplasm | 0.005091382 | 2 | 0 | GAD_LHGDN |
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