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_001354526.1 NCBI
GGGGCGGGGCGGGACGUGCGAGGCGUCGAGAUUUGGGCCUCCUAGGAGC… 5124 nt 0.3827
NM_001354538.2 NCBI
AGUCCUCCCGUCUUGCGCCGCGGCCGCGAGAUCCGUGUGUCUCCCAAGA… 8764 nt 0.3949
NM_001354539.2 NCBI
AGUCCUCCCGUCUUGCGCCGCGGCCGCGAGAUCCGUGUGUCUCCCAAGA… 8799 nt 0.3960
NM_001354540.2 NCBI
AGUCCUCCCGUCUUGCGCCGCGGCCGCGAGAUCCGUGUGUCUCCCAAGA… 9154 nt 0.3964
NM_001354541.2 NCBI
AGUCCUCCCGUCUUGCGCCGCGGCCGCGAGAUCCGUGUGUCUCCCAAGA… 8989 nt 0.3970
NM_001354542.2 NCBI
AGUCCUCCCGUCUUGCGCCGCGGCCGCGAGAUCCGUGUGUCUCCCAAGA… 8608 nt 0.3943
NM_001354543.2 NCBI
AGUCCUCCCGUCUUGCGCCGCGGCCGCGAGAUCCGUGUGUCUCCCAAGA… 9169 nt 0.3967
NM_001354544.2 NCBI
AGUCCUCCCGUCUUGCGCCGCGGCCGCGAGAUCCGUGUGUCUCCCAAGA… 8955 nt 0.3970
NM_001354545.2 NCBI
AGUCCUCCCGUCUUGCGCCGCGGCCGCGAGAUCCGUGUGUCUCCCAAGA… 8572 nt 0.3958
NM_001354546.2 NCBI
AGUCCUCCCGUCUUGCGCCGCGGCCGCGAGAUCCGUGUGUCUCCCAAGA… 8502 nt 0.3940
Showing 11 to 20 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].