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This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
[中文简述(自动翻译):]  该基因编码的成员HERC泛素连接酶家族。所编码的蛋白质位于细胞质和经由HECT结构域结合泛素。在这种基因突变与结肠直肠癌和胃癌相关联。编码多种亚型选择性剪接的转录物变体已经观察到这种基因。 [由RefSeq的,2012年10月提供]
HERC3基因(以及对应的蛋白质)的细胞分布位置:
HERC3基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Liver neoplasms | 0.12 | 1 | 0 | CTD_human |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
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