WH0007337M1
Monoclonal Anti-UBE3A antibody produced in mouse
clone 2F6, purified immunoglobulin, buffered aqueous solution
别名:
Anti-ANCR, Anti-AS, Anti-E6AP, Anti-EPVE6AP, Anti-HPVE6A, Anti-ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome)
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About This Item
推荐产品
生物源
mouse
共軛
unconjugated
抗體表格
purified immunoglobulin
抗體產品種類
primary antibodies
無性繁殖
2F6, monoclonal
形狀
buffered aqueous solution
物種活性
human
技術
immunohistochemistry (formalin-fixed, paraffin-embedded sections): suitable
indirect ELISA: suitable
indirect immunofluorescence: suitable
western blot: 1-5 μg/mL
同型
IgG2aκ
GenBank登錄號
UniProt登錄號
運輸包裝
dry ice
儲存溫度
−20°C
目標翻譯後修改
unmodified
基因資訊
human ... UBE3A(7337)
一般說明
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)
免疫原
UBE3A (AAH09271, 51 a.a. ~ 150 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Sequence
ETFQQLITYKVISNEFNSRNLVNDDDAIVAASKCLKMVYYANVVGGEVDTNHNEEDDEEPIPESSELTLQELLGEERRNKKGPRVDPLETELGVKTLDCR
Sequence
ETFQQLITYKVISNEFNSRNLVNDDDAIVAASKCLKMVYYANVVGGEVDTNHNEEDDEEPIPESSELTLQELLGEERRNKKGPRVDPLETELGVKTLDCR
生化/生理作用
The ubiquitin protein ligase E3A (UBE3A) functions as E3 ligase in the ubiquitin-proteasome pathway and act as transcriptional coactivator of steroid hormone receptors such as progesterone, estrogen and other hormone receptors. During papilloma virus infection, ubiquitin protein ligase E3A (UBE3A), along with E6 viral protein, plays a vital role in degradation of the cell cycle regulatory protein p53. Anomalistic degradation of p53 can cause cervical cancer. Inactivation or deletion of UBE3A gene leads to the neurodevelopmental disorder Angelman syndrome (AS), while overexpression of maternal UBE3A gene is associated with autism pathogenesis. Therefore UBE3A level has to be properly controlled for normal brain development.
外觀
Solution in phosphate buffered saline, pH 7.4
法律資訊
GenBank is a registered trademark of United States Department of Health and Human Services
免責聲明
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
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儲存類別代碼
10 - Combustible liquids
閃點(°F)
Not applicable
閃點(°C)
Not applicable
個人防護裝備
Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.
Human Molecular Genetics, 17(1), 111-118 (2008)
Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.
Epigenomics, 7(7), 1213-1228 (2015)
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.
Nature Genetics, 15(1), 74-77 (1997)
Catalytically Important Residues of E6AP Ubiquitin Ligase Identified Using Acid-Cleavable Photo-Cross-Linkers.
Biochemistry, 54(29), 4411-4414 (2015)
An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.
Cell, 162(4), 795-807 (2015)
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