| UBE3A — Ubiquitin Protein Ligase E3A | |
|---|---|
| Symbol | UBE3A |
| Full Name | Ubiquitin Protein Ligase E3A |
| Chromosome | 15q11.2 |
| NCBI Gene | 7332 |
| Ensembl | ENSG00000114062 |
| OMIM | 601623 |
| UniProt | Q05067 |
| Diseases | Angelman Syndrome, Autism Spectrum Disorder, ALS |
| Expression | Ubiquitous, Brain (neurons), Liver, Muscle |
Ube3A Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
UBE3A (also known as E6-AP) encodes a HECT domain E3 ubiquitin ligase that plays critical roles in protein degradation, synaptic function, and neuronal development. The gene is located on chromosome 15q11.2, a region subject to genomic imprinting—UBE3A is paternally imprinted in neurons, meaning only the maternal allele is expressed [1].
UBE3A is expressed ubiquitously but has particularly important functions in the brain. The protein catalyzes the transfer of ubiquitin to substrate proteins, targeting them for degradation by the proteasome or altering their function through monoubiquitination.
UBE3A is a HECT (Homologous to E6-AP C-terminus) domain E3 ligase:
UBE3A ubiquitinates numerous substrates:
In neurons, UBE3A regulates:
UBE3A is the causative gene for Angelman syndrome. Loss of maternal UBE3A expression causes:
UBE3A duplications or increased expression are associated with ASD. The gene is a key nexus between synaptic function and autism.
Dysregulated UBE3A has been implicated in ALS and other neurodegenerative diseases. Altered ubiquitination pathways contribute to protein aggregation.
The study of Ube3A Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.