Aliases for SAE1 Gene
External Ids for SAE1 Gene
Previous GeneCards Identifiers for SAE1 Gene
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 (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]
GeneCards Summary for SAE1 Gene
SAE1 (SUMO1 Activating Enzyme Subunit 1) is a Protein Coding gene. Diseases associated with SAE1 include adams-oliver syndrome 1 and childhood type dermatomyositis. Among its related pathways are Transport to the Golgi and subsequent modification and Antigen processing- Ubiquitination and Proteasome degradation. GO annotations related to this gene include protein heterodimerization activity and enzyme activator activity.
UniProtKB/Swiss-Prot for SAE1 Gene
The heterodimer acts as a E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2.