UBE3A Antibody

1. UBE3A regulates an imprinted gene network involving DNA methylation and H2A.Z deposition. PMID: 28925810
2. ANCR overexpression inhibited NSCLC cell migration and invasion and downregulated TGF-beta1 expression, while TGF-beta1 treatment showed no significant effects on ANCR expression but promoted NSCLC cell migration and invasion. PMID: 30154397
3. Results from a study on gene expression variability markers in early-stage human embryos shows that UBE3A is a putative expression variability marker for the 3-day, 8-cell embryo stage. PMID: 26288249
4. The divergence of E6 proteins from either MAML1 or E6AP binding preference is a major event in papillomavirus evolution. PMID: 29281732
5. Data report the establishment and thorough characterization of a new iPSC line from a patient with Angelman syndrome, harboring a defined three-base pair deletion within the maternally inherited UBE3A allele. Using computer modeling of the mutant protein, a local destabilization around the catalytic cleft of UBE3A was proposed, likely impairing the binding of substrates. PMID: 27484051
6. We demonstrate that E6AP regulates p27 expression by inhibiting its transcription in an E2F1-dependent manner. Concomitant knockdown of E6AP and p27 partially restores PC cell growth, supporting the contribution of p27 to the overall effect of E6AP on prostate tumorigenesis. PMID: 28477016
7. novel IVS15-1G>C and c.2540 C>T mutations of the UBE3A gene probably underlie the AS in the two families PMID: 29188609
8. Findings show neuronal overexpression of Ube3a isoform 2 causes phenotypes translatable to neurodevelopmental disorders. PMID: 29016856
9. This study demonstrate the importance of the N-terminal domain of full length E6AP for diubiquitin chain specificity. PMID: 29288669
10. our data demonstrates that E6AP facilitates ubiquitination and subsequent degradation of G-CSFR leading to attenuation of its downstream signaling and inhibition of granulocytic differentiation. PMID: 28578910
11. Novel intragenic deletions within the UBE3A gene have been reported in two unrelated patients with Angelman syndrome. PMID: 29162042
12. Data suggest ordered binding of UBCH7-ubiquitin to E6AP Site 1 (for E6AP-Cys820/ubiquitin thioester formation) and E6AP Site 2 (for subsequent chain elongation); proximal indexation accounts for symmetric structure of E6AP, requirement for oligomerization in polyubiquitin chain formation, and mechanistic rationale for Cys820-ubiquitin thioester as platform in chain assembly. (UBCH7 = ubiquitin-conjugating enzyme UBCH7) PMID: 28924046
13. E6AP (UBE3A) abundance is down-regulated in a proportion of NSCLC (non-small cell lung cancer) patients, and this correlates with low p16INK4a in tumors and worse overall survival. PMID: 28074012
14. study has broad implications for human disorders associated with UBE3A gain or loss of function and suggests that dysfunctional UBE3A might affect additional proteins and pathways that are sensitive to proteasome activity PMID: 28559284
15. We found that KD of E6AP attenuates cancer cell growth by promoting cellular senescence in vivo, which correlates with restoration of tumor suppression by PML. PMID: 27641331
16. HCV core protein inhibits E6AP expression via DNA methylation to protect itself from ubiquitin-dependent proteasomal degradation and stimulate virus propagation. PMID: 27317649
17. E6AP suppresses breast cancer metastasis by regulating actin cytoskeleton remodeling through the control of ECT2 and Rho GTPase activity. PMID: 27231202
18. Dube3a is neither imprinted nor preferentially expressed from the maternal allele in fly neurons. PMID: 27599063
19. The ubiquitylation of beta-catenin by E6AP was dependent on its E3 ubiquitin ligase activity, but it was proteasome-independent and did not require HPV16-E6. PMID: 27902311
20. All patients with Angelman syndrome based on a deletion had epilepsy. Epilepsy was present in 3/4 children with UBE3A mutation. Laughter-induced postural muscle tone loss occurred only among deletion cases PMID: 27323320
21. The results of Trans-well and cell scratch tests showed that when ANCR expression was decreased, the invasion and migration abilities of SW620 cells significantly declined (both P < 0.05). In conclusion, these results suggest that lncRNA-ANCR could influence the invasion and migration of CRC cells by specifically binding to EZH2. PMID: 27983539
22. There were total 55 molecularly confirmed Angelman syndrome(AS) between January 1995 to September 2015 for review. 65.5% of them were caused by maternal microdeletion, 10.9% by paternal uniparental disomy, 3.6% by imprinting center defect and 14.5% by UBE3A gene mutation PMID: 27174604
23. The observation of Dup15q syndrome in individuals with maternally but not paternally inherited duplications of chromosome 15q11-q13, suggest that UBE3A drives the Angelman syndrome phenotype in this disorder. (Review) PMID: 26585570
24. our results indicate that CSN6 is a positive regulator of E6AP and is important for cervical cancer development. PMID: 26318036
25. Stable over-expression of E6-AP increases the proliferation and invasion of prostate tumor cells. PMID: 26261538
26. Impairments in both synaptic plasticity and fear conditioning memory in UBE3A-deficient mice are significantly ameliorated by blocking SK2. These results elucidate a mechanism by which UBE3A directly influences cognitive function. PMID: 26166566
27. Study describes an upstream regulatory mechanism for UBE3A and provides a comprehensive understanding of how missense mutations linked to Angelman syndrome and autism affect UBE3A protein function. PMID: 26255772
28. The miR-375-UBE3A axis is important in modulating radiosensitivity of HR-HPV (+) cervical cancer. PMID: 26224081
29. UBE3A dampens ERK pathway signalling in HPV E6 transformed HeLa cells PMID: 25815718
30. crystal structure of a ternary complex comprising full-length human papilloma virus type 16 (HPV-16) E6, the LxxLL motif of E6AP and the core domain of p53 PMID: 26789255
31. UBE3A may regulate the expression of annexin A2, resulting in promotion of proliferation and invasion and suppression of apoptosis in breast cancer cells. PMID: 25816213
32. The activity of E6AP is controlled by noncovalent interactions with ubiquitin and allosteric activators such as the HPV E6 oncoprotein. PMID: 26216987
33. E6-AP Lys(847) is required for the formation of Lys(48)-linked polyubiquitin chains. PMID: 26161728
34. Mutated catalytically inactive forms of UBE3A may cause defects in overall proteasome function. PMID: 25633294
35. Semirhythmic myoclonus is common in patients with Angelman syndrome caused by UBE3A mutations, and such myoclonic events are often life disabling PMID: 24796722
36. study identifies E6AP and PML as potential prognostic markers in localized prostate carcinoma and supports a role for E6AP in driving the downregulation or loss of PML expression in prostate carcinomas PMID: 25231954
37. 111 (4.41%) probands had a nucleotide change classified as pathogenic or strongly favored to be pathogenic, 29 (1.15%) had a VUS, and 126 (5.0%) had a UBE3A nucleotide change classified as benign or strongly favored to be benign PMID: 25212744
38. Identification of 50 proteins in the Drosophila brain that respond to changes in expression levels of the Drosophila ortholog of UBE3A, Dube3a, in neurons. Some of these genes responded at the transcription level. PMID: 23626758
39. Since maternal interstitial duplications result in ASD but paternals do not consistently cause ASD this study implicates the maternally expressed UBE3A gene as the driving force behind the ASD phenotype in 15q Duplication syndrome. PMID: 23495136
40. This study identified E6AP as a novel regulator of the Wnt signaling pathway, capable of cooperating with E6 in stimulating or augmenting Wnt/beta-catenin signaling, thereby possibly contributing to HPV carcinogenesis. PMID: 25262469
41. Within all subgroups, expressive language performance was significantly reduced when compared to the receptive performance. PMID: 24656292
42. The data suggest that UBE3A imprinting in neurons only requires UBE3A-ATS expression, and no other neuron-specific factors. PMID: 24363065
43. In this review, a role for E6AP is defined in the pathobiology of neuro-developmental and neuro-aging diseases. PMID: 24091829
44. The results of this study indicate the efficiency of the data integration and the significant interrelation between Ube3a and p53 in myocardial cells during apoptosis. PMID: 24337433
45. DAta indicate that E6-associated protein (E6AP)/UBE3A oligomerization is required for polyubiquitin degradation signal assembly and that changes in oligomerization regulates such activity. PMID: 24273172
46. pro-IL-1beta is degraded in a proteasome-dependent manner in E6-positive cells which is mediated via the ubiquitin ligase E6-AP and p53. PMID: 23935506
47. This study screening UBE3A was performed in 43 patients who were referred for Angelman Syndrome but whom previous molecular diagnostic tests failed to provide a diagnosis. PMID: 23416059
48. E6AP targeted C/EBPalpha protein degradation may provide a possible explanation for both loss of expression and/or functional inactivation of C/EBPalpha in myeloid leukemia. PMID: 23598402
49. E6AP is an important regulator of ROS-mediated cellular senescence and cell death. PMID: 22986523
50. Arc protein levels are controlled by E6AP at the transcriptional rather than at the posttranslational level. PMID: 23671107

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HGNC: 12496

OMIM: 105830

KEGG: hsa:7337

STRING: 9606.ENSP00000381045

UniGene: Hs.598862