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This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011]
[中文简述(自动翻译):]  该基因编码一个包含相关基因1(BRCA1)C端结构域相互作用乳腺癌的核蛋白。所编码的蛋白质与BOP1和WDR12相互作用形成的PeBoW络合物,起着通过rRNA的预处理和60S核糖体亚基成熟细胞增殖至关重要的作用。这个基因的表达可能在乳腺癌细胞增殖和致瘤性具有重要作用。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。该基因的假基因都位于4号染色体长臂和9号染色体短臂[由RefSeq的,2011年8月提供]
PES1基因(以及对应的蛋白质)的细胞分布位置:
PES1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
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