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UBE3A


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Symbol:UBE3A
Name(s):ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome)
Type:protein-coding
Organism:Homo sapiens
Synonyms:ANCR, AS, E6-AP, EPVE6AP, FLJ26981, HPVE6A
Links: Pubmed, Entrez Gene, GeneCards, Map Viewer.

Gene Information from Publications

Publication Link Summary of findings
18361419 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18186074 Observational study of gene-disease association. (HuGE Navigator)
17942561 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.
16951183 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.
12075004 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.
15054837 UBE3A gene mutations are associated with Angelman syndrome
15655249 E6AP ubiquitin ligase is required for transactivation of the hTERT promoter by the human papillomavirus E6 oncoprotein
16482544 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
15615769 Reduced expression of UBE3A is associated with Rett, Angelman and autism
14981718 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).

View more information from publications.

Interacting gene products

Interaction Type Gene 1 Gene 2 Interaction description Complex Publication Link
HPRDBLKubiquitin protein ligase E3A isoform 2--Pubmed
HPRDB lymphoid tyrosine kinaseUbiquitin protein ligase E3A--Pubmed
HPRDminichromosome maintenance complex component 7 isoform 1ubiquitin protein ligase E3A isoform 2--Pubmed
HPRDminichromosome maintenance complex component 7 isoform 1ubiquitin protein ligase E3A isoform 2--Pubmed
HPRDProgesterone receptorubiquitin protein ligase E3A isoform 2--Pubmed
HPRDprogesterone receptorUbiquitin protein ligase E3A--Pubmed
HPRDp53ubiquitin protein ligase E3A isoform 2--Pubmed
HPRDtumor protein p53Ubiquitin protein ligase E3A--Pubmed
HPRDUbiquitin conjugating enzyme E2D1ubiquitin protein ligase E3A isoform 2--Pubmed
HPRDubiquitin-conjugating enzyme E2D 1Ubiquitin protein ligase E3A--Pubmed

Recent Publications on UBE3A:

Pubmed Logo
E6 proteins from multiple human betapapillomavirus types degrade Bak and protect keratinocytes from apoptosis after UVB irradiation.
Human papillomavirus (HPV) types from the beta genus (beta-HPVs) have been...
1st November, 2008
Division of Human Biology, Fred Hutchinson Cancer Research Center, J Virol. 2008 Nov;82(21):10408-17. Epub 2008 Aug 20.
DOI Direct Link
Gene symbol: UBE3A. Disease: Angelman syndrome.
Skeletal muscle atrophy and fatty infiltration develop after tendon...
25th October, 2008
All Children's Hospital, Pathology, 6th St South, 801, St. Petersburg, FL Hum Genet. 2008 Oct;124(3):304.
A Drosophila model for Angelman syndrome.
Angelman syndrome is a neurological disorder whose symptoms include severe...
25th October, 2008
Section of Molecular Cell and Developmental Biology, Institute for Cell Proc Natl Acad Sci U S A. 2008 Aug 26;105(34):12399-404. Epub 2008 Aug 13.
DOI Direct Link
Expression of Atrophy mRNA Relates to Tendon Tear Size in Supraspinatus Muscle.
Skeletal muscle atrophy and fatty infiltration develop after tendon...
23rd October, 2008
Department of Orthopedics, University Hospital Balgrist, University of Clin Orthop Relat Res. 2008 Oct 22.
DOI Direct Link
Angelman syndrome due to a novel splicing mutation of the UBE3A gene.
Angelman syndrome is a neurodevelopmental disorder characterized by mental...
18th October, 2008
Pediatric Neurology Unit, University of Padua, Padova, Italy. J Child Neurol. 2008 Aug;23(8):912-5. Epub 2008 May 16.
DOI Direct Link

View more research publications.

Clinical Trials:

Clinical Trials Logo
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
Williams Syndrome;   Angelman Syndrome;   Prader-Willi Syndrome;   Shprintzen Syndrome;   Smith-Magenis Syndrome;   DiGeorge Syndrome;   Chromosome Abnormalities

Patents:

Patents logo
US Patent No.Title
7427400 Methods of cancer diagnosis and therapy targeted against a cancer stem line
7014997 Chromosome structural abnormality localization with single copy probes
6962989 Corynebacterium glutamicum genes encoding novel proteins
6936417 Gene expression in bladder tumors
6905827 Methods and compositions for diagnosing or monitoring auto immune and chronic inflammatory diseases

View more patents.

UBE3A results (if any) from reagent suppliers

Google CSE Logo
UBE3A antibody (ab3519) datasheet | Abcam
Rabbit polyclonal to UBE3A. UBE3A (Ubiquitin protein ligase E3A) is part of the ubiquitin protein degradation system. The gene for UBE3A is maternally ...
http://www.abcam.com/index.html?datasheet=3519...

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UBE3A Antibody (C-term)
"UBE3A interacts with the E6 protein of the cancer-associated human papillomavirus types 16 and 18. The E6/E6-AP complex binds to and targets the
p53 ...
http://www.abgent.com/products/catalog_no/AP2154b...

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UBE3A antibodies | Abcam
UBE3A antibodies. ... UBE3A antibody. IP, WB. Specific publication references. Rabbit polyclonal. Reacts with:. Hu. Predicted:. Ms, Xl ...
http://www.abcam.com/index.html?t=11279&pt=1&c=566...

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Orbigen Inc. - Orbigen Inc.
The ubiquitin protein ligase E3A (UBE3A) is part of the ubiquitin protein degradation ... The UBE3A gene encodes 3 different protein isoforms (1, 2 and 3)
. ...
http://www.orbigen.com/commerce/catalog/product.jsp?product_...

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Alternative names for UBE3A antibody (ab3519)
Alternative names for UBE3A antibody (ab3519). E6AP ubiquitin protein ligase antibody; NY REN 54 antigen antibody; ANCR antibody; Angelman syndrome antibody
...
http://www.abcam.com/assets/popups/alternative-names.htm?int...

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UBE3A ubiquitin protein ligase E3A (human papilloma virus E6 ...
UBE3A; ANCR; AS; E6-AP; EPVE6AP; FLJ26981; HPVE6A. Other Designations ... WH0007337M1, Monoclonal Anti-UBE3A antibody produced in mouse clone 2F6, ...
http://www.sigmaaldrich.com/catalog/search/SIRNASearchGeneDe...

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UBE3A peptide (ab40425) datasheet | Abcam
UBE3A peptide. UBE3A (Ubiquitin protein ligase E3A) is part of the ubiquitin protein degradation system. The gene for UBE3A is maternally expressed in brain
...
http://www.abcam.com/index.html?datasheet=40425...

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Rabbit anti-E6AP Antibody
Anti-E6AP antibody, anti-UBE3A antibody, anti-AS ... Reactivity with X. laevis UBE3A is. likely owing to identity between these orthologs and ...
http://www.natutec.de/pdf_bethyl/A300-352A.pdf...

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Protein Modification - Ubiquitination Antibody
AP2157a, UBE2V1 Antibody (N-term), WB, IHC, E, H, M. AP2154b, UBE3A Antibody (C- term), WB, IHC, E, H. AP2154a, UBE3A Antibody (N-term), WB, E, H ...
http://www.abgent.com/products/category/protein_modification...

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Rabbit anti-E6AP Antibody
Anti-E6AP antibody, anti-UBE3A antibody, anti-AS. antibody, anti-HPVE6AP antibody, ... UBE3A, Ubiquitin-protein ligase E3A; AS,. Angelman Syndrome; ANCR.
...
http://www.natutec.de/pdf_bethyl/A300-351A.pdf...

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