General description
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)
Immunogen
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
Biochem/physiol Actions
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.
Physical form
Solution in phosphate buffered saline, pH 7.4
Legal Information
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Disclaimer
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.
| biological source | mouse |
| Quality Segment | 100 |
| conjugate | unconjugated |
| antibody form | purified immunoglobulin |
| antibody product type | primary antibodies |
| clone | 2F6, monoclonal |
| form | buffered aqueous solution |
| species reactivity | human |
| technique(s) | immunohistochemistry (formalin-fixed, paraffin-embedded sections): suitable,indirect ELISA: suitable,indirect immunofluorescence: suitable,western blot: 1-5 μg/mL |
| isotype | IgG2aκ |
| GenBank accession no. | BC009271 |
| UniProt accession no. | Q05086 |
| shipped in | dry ice |
| storage temp. | −20°C |
| target post-translational modification | unmodified |
| Gene Information | human ... UBE3A(7337) |
