Aliases: AOS1, HSPC140, SUA1, UBLE1A
Chromosome No: 19
Chromosome Band: 19q13.32
Genetic Category: Rare single gene variant
ASD Reports: 3
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 2
Evidence score: null
Relevance to Autism
A novel recurrent 24.7 kb duplication involving the SAE1 gene was identified in 3/696 ASD cases vs. 1/5,139 controls (FET two-tailed p = 0.00616) in Prasad et al., 2012. Additional duplications affecting the SAE1 gene have been observed in ASD probands (Pinto et al., 2010; Turner et al., 2016).
Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins.