Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | UBE3A |
| Gene Name: | UBE3A |
| Protein Full Name: | Ubiquitin-protein ligase E3A |
| Alias: | ANCR; Angelman syndrome; AS; CTCL tumor antigen se37-2; E6AP; E6-AP; E6AP ubiquitin-protein ligase; EPVE6AP; FLJ26981; HPVE6A; Human papillomavirus E6-associated protein; Oncogenic protein-associated protein E6-AP; Ubiquitin protein ligase E3A |
| Mass (Da): | 100646 |
| Number AA: | 875 |
| UniProt ID: | Q05086 |
| Locus ID: | 7337 |
| COSMIC ID: | UBE3A |
| Gene location on chromosome: | 15q11.2 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20357 |
| Percent of cancer specimens with mutations: | 0.72 |
| Normal role description: | As ubiquitin ligase, UBE3A targets p53 and other proteins for ubiquitylation and proteasomal degradation, in an E6 oncoprotein (high risk HPV) dependent or independent way. Acts as coactivator of the nuclear hormone receptor superfamily. UBE3A mutations have not been associated with cancer development. The E6/E6AP (UBE3A) complex is indirectly involved in tumorigenesis in cervical cancer through p53 degradation. |