更多...
收起
This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene consists of three direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. An aberrant form of this protein has been detected in patients with Alzheimer's disease and Down syndrome. Pseudogenes of this gene are located on chromosomes 1, 2, 13, and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
[中文简述(自动翻译):]  这个基因编码的泛素,已知的最保守的蛋白之一。泛素具有由26S蛋白酶体靶向细胞蛋白降解主要作用。它也参与维持染色质结构,基因表达的调节,与应激反应。泛素是合成的由任一多聚泛素链或稠合到一个不相关的蛋白质的单遍在蛋白部分的前体蛋白。该基因组成的泛素编码序列无间隔序列三个直接重复。因此,该蛋白被表达为与最后的重复后的最终氨基酸多聚遍前体。这种蛋白质的异常形式已在患者的阿尔茨海默氏病和唐氏综合征被检测到。该基因的假基因位于染色体1 2,第13,并在多个转录变异体17选择性剪接的结果。 [由RefSeq的,2013年8月提供]
UBB基因(以及对应的蛋白质)的细胞分布位置:
UBB基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Cleft Palate, Isolated, And Mental Retardation | 0.12 | 0 | 0 | CTD_human |
| Alzheimer's Disease | 0.00680591 | 6 | 0 | BeFree_LHGDN |
| Multiple System Atrophy | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Myositis | 0.00272435 | 1 | 0 | LHGDN |
| Tauopathies | 0.001900093 | 7 | 0 | BeFree |
| Down Syndrome | 0.000814326 | 3 | 0 | BeFree |
| Progressive supranuclear palsy | 0.000814326 | 3 | 0 | BeFree |
| Neurofibrillary degeneration (morphologic abnormality) | 0.000814326 | 3 | 0 | BeFree |
| Neurodegenerative Disorders | 0.000814326 | 3 | 0 | BeFree |
| Senile Plaques | 0.000542884 | 2 | 0 | BeFree |
| Bronchopneumonia | 0.000271442 | 1 | 0 | BeFree |
| Malignant tumor of cervix | 0.000271442 | 1 | 0 | BeFree |
| Diabetes Insipidus | 0.000271442 | 1 | 0 | BeFree |
| Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Shy-Drager Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Memory impairment | 0.000271442 | 1 | 0 | BeFree |
| Pick Disease of the Brain | 0.000271442 | 1 | 0 | BeFree |
| Inclusion Body Myositis (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
| multiple pathologies | 0.000271442 | 1 | 0 | BeFree |
| Central Diabetes Insipidus | 0.000271442 | 1 | 0 | BeFree |
| Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Inclusion Body Myopathy, Sporadic | 0.000271442 | 1 | 0 | BeFree |
| Lewy Body Disease | 0.000271442 | 1 | 0 | BeFree |
| MYOTILINOPATHY | 0.000271442 | 1 | 0 | BeFree |
| Plaque, Amyloid | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。