SAE1
Description
The SAE1 (SUMO1 activating enzyme subunit 1) is a protein-coding gene located on chromosome 19.
SUMO-activating enzyme subunit 1 is a protein encoded by the SAE1 gene in humans. It interacts with SAE2, the protein product of the UBA2 gene.
The SAE1/UBA2 heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and possibly SUMO4. This process involves ATP-dependent activation of SUMO proteins, leading to the formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2.
SAE1 is also known as AOS1, HSPC140, SUA1, UBLE1A.
Associated Diseases
- lysosomal storage disease
- endometrial cancer
- ovarian cancer
- multiple sclerosis
- esophageal cancer
- type 2 diabetes mellitus
