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The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质是在序列相似和可能作用是成视网膜细胞瘤1(RB1)基因的产物。 RB1基因产物是出现是参与细胞周期调控的,因为它在S到M期过渡磷酸,并在细胞周期的G1期被脱磷酸化一种肿瘤抑制蛋白。两者RB1蛋白和该基因的产物可与腺病毒E1A蛋白和SV40大T抗原的复合物,用SV40大T抗原仅绑定到每个蛋白的非磷酸化形式。此外,这两种蛋白质能抑制含有E2F结合在其启动子位点的细胞周期基因的转录。由于该序列和生化相似与RB1蛋白,它被认为是由该基因编码的蛋白质也可以是一种肿瘤抑制。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的,2008年7月提供]
RBL1基因(以及对应的蛋白质)的细胞分布位置:
RBL1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Retinoblastoma | 0.006786047 | 25 | 0 | BeFree |
Adenoma | 0.00272435 | 1 | 0 | LHGDN |
Carcinoma, Papillary | 0.00272435 | 1 | 0 | LHGDN |
Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Mammary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of ovary | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of prostate | 0.000814326 | 3 | 0 | BeFree |
Prostate carcinoma | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of cervix | 0.000271442 | 1 | 0 | BeFree |
Lung Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Cancer of Head and Neck | 0.000271442 | 1 | 0 | BeFree |
Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
Endometrial Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
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