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人UBE3A(NM_130838)ORF克隆
人UBE3A(NM_130838)ORF克隆
会员等级价V
已售 3 件 | 评价 0 人次 | 关注度 260
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  • 商品货号:F112361
  • accession:NM_130838
  • 基因别名:UBE3A
  • 基因描述:Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 1, mRNA.
  • 载体: 现货载体
  • CDS区长度:2559
  • 翻译后氨基酸长度:852
  • TranscriptVariant:This variant (1) uses a downstream in-frame start codon, as compared to variant 2. An additional exon at the 5' end containing a stop codon has been described, but its full length sequence has not been reported. Isoform 1 is 23 aa shorter than isoform 2.
  • 基因简介: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]
  • 载体信息:自有图片地址
  • 规格:10ul 质粒
CDS区参考序列: 点击查看序列
翻译后氨基酸参数序列: 点击查看序列