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Validated All-in-One™ qPCR Primer for UBE3A(NM_000462.4) Search again
Product ID:
HQP018388
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ANCR, AS, E6-AP, EPVE6AP, HPVE6A, PIX1
Gene Description:
ubiquitin protein ligase E3A
Target Gene Accession:
NM_000462.4(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
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].
Gene References into function
- evaluation for 22 clinical variables-- including growth parameters, acquisition of motor skills, and history of seizures--and molecular and cytogenetic analyses are used to assign a molecular class (I-V) to patients for genotype-phenotype correlations
- A borderline significant association with a 7 bp deletion in UBE3A (P = 0.01) was found. This polymorphism was then evaluated further in a larger series of families with tuberculosis, including 44 Guinean families and 57 families from South Africa.
- Imprinted so that the maternal allele is preferentially expressed.
- VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A
- TIP120A functions as a negative regulator of SCF E3 ubiquitin ligases and may modulate other cullin ligases in a similar fashion.
- degrades p53 in the presence of HPV16 E6 protein
- Inherited mutation at the UBE3A gene (5.4%)in diagnosis of Angelman syndrome.
- By combining our data with those of the literature, we demonstrate statistically that the frequency of UBE3A mutations is significantly higher in the familial than sporadic subsets of AS (angelman syndrome).
- UBE3A gene mutations are associated with Angelman syndrome
- Reduced expression of UBE3A is associated with Rett, Angelman and autism
- E6AP ubiquitin ligase is required for transactivation of the hTERT promoter by the human papillomavirus E6 oncoprotein
- E6AP mediates a broad spectrum of E6 functions, including virtually all functions that impact on the transcriptional program of HPV-positive cell lines.
- E6AP is a component of estrogen receptor degradation via the ubiquitin-proteasome pathway; Ca(2+)/calmodulin modulates this degradation mechanism
- data revealed that E6AP is extensively involved in the ubiquitin-mediated degradation of human papillomavirus E6-dependent substrates as a cellular E3 ubiquitin-protein ligase
- These findings suggest that the silencing of astrin induce a p53-dependent apoptosis and has an additive effect on paclitaxel treatment.
- Telomerase activity at both early and late passages, however, was dependent on E6AP expression, implying a continued reliance on E6 function for telomerase activity
- detected 20 proteins that were differentially regulated by over-expression of human UBE3A in Drosophila
- changes in the cellular milieu initiate E6AP-mediated proteasomal degradation of AIB1 and thus contribute to the control of steady-state levels of this protein in breast cancer cells.
- proteolytic properties of human papillomavirus E6 proteins are mediated by interaction with E6-AP
- A study was done of ubiquitin-dependent proteolysis of TH1L protein by E6-AP.
- Findings indicate that HPV 16 E6 protein is required for the immortalization of tonsil epithelial cells and suggests that a mechanism related to the E6 PDZ motif plays a role in cell transformation of tonsil cells.
- Angelman syndrome is a neurogenetic condition that includes sleep problems. It is caused by lack of expression of the UBE3A gene on the maternal chromosome 15q11-q13.
- binding to E6AP is not necessary for E6 localization to or activation of the hTERT promoter and another activity of E6 is involved in hTERT activation.
- E6-AP not only enhances the degradation of p53 but also regulates the neuronal cell growth.
- E6-AP is a critical mediator of the neuronal response to misfolded polyglutamine proteins and represents a potential therapeutic target in the polyglutamine diseases.
- These data suggest that complex formation between E6, E6AP, and NFX1-91 is a critical step in mediating telomerase activation, which may be one contributing factor to cellular life span extension during human betapapillomavirus infection.
- The degradation of TSC2 is mediated by E6AP ubiquitin ligase.
- We found a novel splice-site mutation of the UBE3A gene in a child with clinical and EEG features of Angelman syndrome.
- Ubiquitin over-expression promotes the destabilization of the ubiquitin protein ligase E6AP, by a mechanism involving self-ubiquitination, and the stabilization of p53.