ArticleHuman molecular genetics2025
Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position.
Article in Human molecular genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Members of the RhoA subfamily of GTPases suppress the stimulatory effect of the HPV E6 oncoprotein on the ubiquitin ligase E6AP.Scientific reports · 2026Article
- UBE3A isoform-selective and non-selective contributions to Angelman syndrome phenotypes.Molecular psychiatry · 2026Article
- Neuronal UBE3A substrates hold therapeutic potential for Angelman syndrome.Current opinion in neurobiology · 2024Review
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6 authors.
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Abstract
The human UBE3A gene encodes three isoforms of Ubiquitin E3 ligase A, which differ in their N-terminal sequence, abundance, and localization. The most abundant isoforms are the short human UBE3A isoform 1 (hUBE3A-Iso1) (80%) and the long hUBE3A-Iso3 (17%), which are highly conserved across mammals. In mouse and human neurons, UBE3A levels are most prominent in the nucleus, which is largely attributed to the abundant short hUBE3A-Iso1 which is enriched in the nucleus. In mice, the cytosolic UBE3A staining is predominantly the result of cytosolically enriched long m(ouse)UBE3A-Iso2. Despite the high sequence conservation between the long mUBE3A-Iso2 and its human ortholog hUBE3A-Iso3, we previously reported nuclear enrichment for hUBE3A-Iso3. This finding was not only surprising, but also seemed at odds with the substantial cytosolic UBE3A staining that is observed in human neurons. Here, we revisited the localization of hUBE3A-Iso3, as well as an Angelman syndrome-associated variant in the N-terminal sequence of hUBE3A-Iso3. We now conclude that hUBE3A-Iso3 isoform and its mouse ortholog mUBE3A-Iso2 show in fact a very similar mostly cytosolic localization. Our previous, erroneous, conclusions are explained by the finding that N-terminal amino acid substitutions affect the localization of these two orthologs in different ways. Specifically, amino acid substitutions at the p.Met21 position of hUBE3A-Iso3 result in a partial shift of the hUBE3A-Iso3 isoform from the cytosol to the nucleus.
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