Basic Information

Symbol
UBE3A
RNA class
mRNA
Alias
Ubiquitin Protein Ligase E3A EPVE6AP HPVE6A E6-AP ANCR AS Human Papilloma Virus E6-Associated Protein Human Papillomavirus E6-Associated Protein Oncogenic Protein-Associated Protein E6-AP HECT-Type Ubiquitin Transferase E3A Renal Carcinoma Antigen NY-REN-54 E6AP Ubiquitin-Protein Ligase Ubiquitin-Protein Ligase E3A FLJ26981 CTCL Tumor Antigen Se37-2 Angelman Syndrome EC 2.3.2.26 PIX1 E6AP
Location (GRCh38)
15:25333728-25439092
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_130839.5
Sequence length
8728.0 nt
GC content
0.3951

Transcripts

ID Sequence Length GC content
NM_001354547.2 NCBI
AGUCCUCCCGUCUUGCGCCGCGGCCGCGAGAUCCGUGUGUCUCCCAAGA… 8768 nt 0.3972
NM_001354548.2 NCBI
AGUCCUCCCGUCUUGCGCCGCGGCCGCGAGAUCCGUGUGUCUCCCAAGA… 8388 nt 0.3952
NM_001354549.2 NCBI
AGUCCUCCCGUCUUGCGCCGCGGCCGCGAGAUCCGUGUGUCUCCCAAGA… 8379 nt 0.3958
NM_001354550.2 NCBI
AGUCCUCCCGUCUUGCGCCGCGGCCGCGAGAUCCGUGUGUCUCCCAAGA… 7477 nt 0.3963
NM_001354551.2 NCBI
AGUCCUCCCGUCUUGCGCCGCGGCCGCGAGAUCCGUGUGUCUCCCAAGA… 7293 nt 0.3956
NM_001374461.1 NCBI
AGUCCUCCCGUCUUGCGCCGCGGCCGCGAGAUCCGUGUGUCUCCCAAGA… 7249 nt 0.3916
NM_130838.4 NCBI
AGUCCUCCCGUCUUGCGCCGCGGCCGCGAGAUCCGUGUGUCUCCCAAGA… 8544 nt 0.3944
NM_130839.5 NCBI
AGUCCUCCCGUCUUGCGCCGCGGCCGCGAGAUCCGUGUGUCUCCCAAGA… 8728 nt 0.3951
Showing 21 to 28 of 28 entries
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, Jul 2008]

Forensic Context

A study in humans undergoing cardiac surgery with cardiopulmonary bypass demonstrated that acute left ventricular ischemia induces significant changes in microRNA and mRNA expression profiles [Saddic et al. DOI:10.1152/physiolgenomics.00049.2015]. Among the findings, the mRNA for the UBE3A (UBE3A), which functions in the ubiquitin pathway, was identified as a predicted target of the upregulated miRNA miR-339-5p and showed a strong anticorrelated expression pattern (Pearson r = -0.73) in postischemic myocardial tissue. A study in mice and human cells demonstrated that the UBE3A is a long noncoding RNA that maintains the stem cell state in epidermal stem cells, as its depletion results in ectopic differentiation [Flynn and Chang DOI:10.1016/j.stem.2014.05.014]. Subsequent research in human nasopharyngeal carcinoma cells showed that the UBE3A is upregulated and promotes radioresistance through epigenetic regulation of PTEN, indicating its role in modulating cellular response to ionizing radiation [May et al. DOI:10.1016/j.trsl.2021.02.005].