UBE2C (ubiquitin conjugating enzyme E2 C)
- symbol:
- UBE2C
- locus group:
- protein-coding gene
- location:
- 20q13.12
- gene_family:
- Ubiquitin-conjugating enzymes E2
- alias symbol:
- UBCH10
- alias name:
- None
- entrez id:
- 11065
- ensembl gene id:
- ENSG00000175063
- ucsc gene id:
- uc002xpm.4
- refseq accession:
- NM_007019
- hgnc_id:
- HGNC:15937
- approved reserved:
- 2001-07-31
UBE2C（泛素结合酶E2C）属于泛素-蛋白酶体系统（UPS）中的泛素结合酶（E2）家族，该家族成员负责将泛素分子（一种小蛋白标记）转移到靶蛋白上，介导蛋白质的降解或功能调控。UBE2C特异性参与细胞周期调控，主要通过与后期促进复合物（APC/C）协同作用，促进周期蛋白（如cyclin B1）的泛素化降解，确保有丝分裂的正常退出。其作用位点集中在细胞分裂相关的蛋白复合物上，尤其在纺锤体检查点（spindle checkpoint）功能中起关键作用。若UBE2C发生功能丧失性突变，会导致周期蛋白异常积累，引发染色体分离错误和多倍体化，与多种癌症（如乳腺癌、结直肠癌）的发生密切相关；而某些错义突变可能削弱其与APC/C的结合能力，造成有丝分裂延迟。该基因过表达常见于恶性肿瘤，会加速周期蛋白降解，破坏细胞周期检查点，促进基因组不稳定性及肿瘤增殖；反之，表达降低可能导致有丝分裂阻滞或细胞凋亡。UBE2C所属的UBE2基因家族（含约40个成员）均具有保守的泛素结合酶活性核心结构域（UBC domain），但各成员在底物特异性、组织分布及调控机制上存在差异。目前针对UBE2C的抑制剂（如小分子TZ9）正在研发中，旨在通过干扰其与APC/C的相互作用来抑制肿瘤生长。术语解释：泛素化（ubiquitination）指泛素分子共价结合靶蛋白的过程，通常标记该蛋白被蛋白酶体降解；纺锤体检查点（spindle checkpoint）是细胞分裂时确保染色体正确附着的监控机制。需注意"后期促进复合物"（APC/C, anaphase-promoting complex/cyclosome）的中文译名尚未完全统一，部分文献直译为"促后期复合物"。
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is required for the destruction of mitotic cyclins and for cell cycle progression, and may be involved in cancer progression. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been defined on chromosomes 4, 14, 15, 18, and 19. [provided by RefSeq, Aug 2013]
与泛素蛋白的修饰是降解目标异常或短命的蛋白质一种重要的细胞机制。泛素化涉及至少三类酶：泛素激活酶，泛素结合酶，和泛素 - 蛋白连接酶。这个基因编码的E2泛素结合酶家族的一个成员。所编码的蛋白质所需的有丝分裂细胞周期蛋白的破坏和对细胞周期进程，并可能参与癌症进展。已发现该基因编码不同亚型的多个抄本变形。该基因的假已经定义上，18条染色体4 14 15，和19 [由RefSeq的，2013年8月提供]
基因本体信息
UBE2C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
UBE2C基因的本体（GO）信息：
| 名称 |
|---|
| 4120 Ubiquitin mediated proteolysis [PATH:hsa04120] |
| 名称 |
|---|
| Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins |
| Adaptive Immune System |
| Antigen processing: Ubiquitination & Proteasome degradation |
| APC-Cdc20 mediated degradation of Nek2A |
| APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint |
| APC/C-mediated degradation of cell cycle proteins |
| APC/C:Cdc20 mediated degradation of Cyclin B |
| APC/C:Cdc20 mediated degradation of mitotic proteins |
| APC/C:Cdc20 mediated degradation of Securin |
| APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1 |
| Autodegradation of Cdh1 by Cdh1:APC/C |
| Cdc20:Phospho-APC/C mediated degradation of Cyclin A |
| Cell Cycle |
| Cell Cycle Checkpoints |
| Cell Cycle, Mitotic |
| Cellular responses to stress |
| Cellular Senescence |
| Class I MHC mediated antigen processing & presentation |
| Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase |
| Inactivation of APC/C via direct inhibition of the APC/C complex |
| Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components |
| M Phase |
| Mitotic Anaphase |
| Mitotic Metaphase and Anaphase |
| Mitotic Spindle Checkpoint |
| Phosphorylation of the APC/C |
| Regulation of APC/C activators between G1/S and early anaphase |
| Regulation of mitotic cell cycle |
| Senescence-Associated Secretory Phenotype (SASP) |
| Separation of Sister Chromatids |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Neoplasm Metastasis | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Adenocarcinoma | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Liver carcinoma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Thyroid Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
| Colonic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Breast Carcinoma | 0.002714419 | 10 | 0 | BeFree |
| Malignant neoplasm of breast | 0.002442977 | 9 | 0 | BeFree |
| Carcinogenesis | 0.002171535 | 8 | 0 | BeFree |
| Colorectal Carcinoma | 0.001357209 | 5 | 0 | BeFree |
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