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UBE3A Antibody (N-term) Blocking Peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
| Primary Accession | Q05086 |
|---|---|
| Clone Names | 100430196 |
| Gene ID | 7337 |
|---|---|
| Other Names | Ubiquitin-protein ligase E3A, 632-, E6AP ubiquitin-protein ligase, Human papillomavirus E6-associated protein, Oncogenic protein-associated protein E6-AP, Renal carcinoma antigen NY-REN-54, UBE3A, E6AP, EPVE6AP, HPVE6A |
| Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
| Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
| Precautions | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
| Name | UBE3A (HGNC:12496) |
|---|---|
| Function | E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and transfers it to its substrates (PubMed:10373495, PubMed:16772533, PubMed:19204938, PubMed:19233847, PubMed:19325566, PubMed:19591933, PubMed:22645313, PubMed:24273172, PubMed:24728990, PubMed:30020076). Several substrates have been identified including the BMAL1, ARC, LAMTOR1, RAD23A and RAD23B, MCM7 (which is involved in DNA replication), annexin A1, the PML tumor suppressor, and the cell cycle regulator CDKN1B (PubMed:10373495, PubMed:19204938, PubMed:19325566, PubMed:19591933, PubMed:22645313, PubMed:24728990, PubMed:30020076). Additionally, may function as a cellular quality control ubiquitin ligase by helping the degradation of the cytoplasmic misfolded proteins (PubMed:19233847). Finally, UBE3A also promotes its own degradation in vivo. Plays an important role in the regulation of the circadian clock: involved in the ubiquitination of the core clock component BMAL1, leading to its proteasomal degradation (PubMed:24728990). Acts as transcriptional coactivator of progesterone receptor PGR upon progesterone hormone activation (PubMed:16772533). Acts as a regulator of synaptic development by mediating ubiquitination and degradation of ARC (By similarity). Required for synaptic remodeling in neurons by mediating ubiquitination and degradation of LAMTOR1, thereby limiting mTORC1 signaling and activity-dependent synaptic remodeling (By similarity). Synergizes with WBP2 in enhancing PGR activity (PubMed:16772533). |
| Cellular Location | Cytoplasm {ECO:0000250|UniProtKB:O08759}. Nucleus {ECO:0000250|UniProtKB:O08759} |
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Background
This gene encodes an E3 ubiquitin-protein ligase, part ofthe ubiquitin protein degradation system. This imprinted gene ismaternally expressed in brain and biallelically expressed in othertissues. Maternally inherited deletion of this gene causes AngelmanSyndrome, characterized by severe motor and intellectualretardation, ataxia, hypotonia, epilepsy, absence of speech, andcharacteristic facies. The protein also interacts with the E6protein of human papillomavirus types 16 and 18, resulting inubiquitination and proteolysis of tumor protein p53. Alternativesplicing of this gene results in three transcript variants encodingthree isoforms with different N-termini. Additional transcriptvariants have been described, but their full length nature has notbeen determined.
References
Peters, S.U., et al. Am. J. Med. Genet. A 152A (8), 1994-2001 (2010) :Wang, H., et al. J. Biol. Chem. 285(17):13201-13210(2010)Zaaroor-Regev, D., et al. Proc. Natl. Acad. Sci. U.S.A. 107(15):6788-6793(2010)Sanduja, S., et al. Aging (Albany NY) 1(9):803-817(2009)Matsuoka, S., et al. Science 316(5828):1160-1166(2007)
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