更多...
收起
This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  这个基因编码的E3泛素 - 蛋白质连接酶,泛素蛋白降解系统的一部分。此印迹基因在脑母系表达和在其它组织biallelically表达。该基因的母系遗传缺失导致安琪儿综合征,其特点是严重的运动和智力发育迟缓,共济失调,肌张力低下,癫痫,无语音和特点相。蛋白质还与人乳头瘤病毒16型和18的E6蛋白相互作用,导致泛素化和肿瘤蛋白的p53蛋白水解。在三个转录本基因导致选择性剪接变异体编码三种亚型具有不同的N端。额外转录变体进行了说明,但它们的全长性质尚未确定。 [由RefSeq的,2008年7月提供]
UBE3A基因(以及对应的蛋白质)的细胞分布位置:
UBE3A基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Angelman Syndrome | 0.366118831 | 114 | 112 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD |
Autistic Disorder | 0.132182547 | 13 | 0 | BeFree_CTD_human_GAD |
Epilepsy | 0.121628651 | 7 | 0 | BeFree_CTD_human |
Craniofacial Abnormalities | 0.12 | 1 | 0 | CTD_human |
Prader-Willi Syndrome | 0.005971721 | 22 | 0 | BeFree |
Tuberculosis | 0.005362824 | 2 | 0 | BeFree_GAD_LHGDN |
Mammary Neoplasms | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Infection | 0.00272435 | 1 | 0 | LHGDN |
Cardiomegaly | 0.002367032 | 1 | 1 | GAD |
Malignant tumor of cervix | 0.001628651 | 6 | 0 | BeFree |
Cervix carcinoma | 0.001628651 | 6 | 0 | BeFree |
Carcinogenesis | 0.001357209 | 5 | 0 | BeFree |
Neurodevelopmental Disorders | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of breast | 0.001085767 | 4 | 0 | BeFree |
nervous system disorder | 0.001085767 | 4 | 0 | BeFree |
Breast Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Autism Spectrum Disorders | 0.001085767 | 4 | 0 | BeFree |
Rett Syndrome | 0.000814326 | 3 | 0 | BeFree |
Atrial Septal Defects | 0.000542884 | 2 | 0 | BeFree |
Mental Retardation | 0.000542884 | 2 | 0 | BeFree |
Ataxia | 0.000271442 | 1 | 0 | BeFree |
Absence Epilepsy | 0.000271442 | 1 | 0 | BeFree |
Failure to Thrive | 0.000271442 | 1 | 0 | BeFree |
Huntington Disease | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia | 0.000271442 | 1 | 0 | BeFree |
Muscle hypotonia | 0.000271442 | 1 | 0 | BeFree |
Papilloma | 0.000271442 | 1 | 0 | BeFree |
Severe mental retardation (I.Q. 20-34) | 0.000271442 | 1 | 0 | BeFree |
Hypopigmentation disorder | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Alkalemia | 0.000271442 | 1 | 0 | BeFree |
Trembling | 0.000271442 | 1 | 0 | BeFree |
High-Grade Squamous Intraepithelial Lesions | 0.000271442 | 1 | 0 | BeFree |
Developmental delay (disorder) | 0.000271442 | 1 | 0 | BeFree |
Fragile X chromosome | 0.000271442 | 1 | 0 | BeFree |
Neurodegenerative Disorders | 0.000271442 | 1 | 0 | BeFree |
invasive cancer | 0.000271442 | 1 | 0 | BeFree |
cerebellar function | 0.000271442 | 1 | 0 | BeFree |
Chromosome 15q, trisomy | 0.000271442 | 1 | 0 | BeFree |
Low Grade Squamous Intraepithelial Neoplasia | 0.000271442 | 1 | 0 | BeFree |
Mammary Tumorigenesis | 0.000271442 | 1 | 0 | BeFree |
Mowat-Wilson syndrome | 0.000271442 | 1 | 0 | BeFree |
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT | 0.000271442 | 1 | 0 | BeFree |
Cerebral cortex myoclonus | 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。