BioPortfolio - UBE3A - ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome)

UBE3A

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, BioGPS, 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).

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