SAE1
Homo sapiens
Gene Name: SUMO1 activating enzyme subunit 1
Aliases: AOS1, HSPC140, SUA1, UBLE1A
Chromosome No: 19
Chromosome Band: 19q13.32
Genetic Category: Rare single gene variant
Aliases: AOS1, HSPC140, SUA1, UBLE1A
Chromosome No: 19
Chromosome Band: 19q13.32
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 2
Evidence score: 0
ASD Reports: 4
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 2
Evidence score: 0
| Associated Disorders: |
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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).
Molecular Function
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.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Recent Recommendation
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
ASD
