UBA2
Function
The heterodimer acts as an 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.
Involvement in disease
ACCES syndrome
ACCES
An autosomal dominant syndrome characterized by a highly variable phenotypic spectrum. Clinical features include aplasia cutis congenita, thin scalp hair, dry skin, dental anomalies, ectrodactyly, and skeletal and neurodevelopmental abnormalities. Craniofacial, cardiac, renal and genital anomalies have also been reported. Affected individuals have early growth deficiencies that improve with age.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; protein sumoylation.
Post-translational modifications
Sumoylated with SUMO1 and SUMO2/3 and by UBC9. Sumoylation at Lys-236 inhibits enzymatic activity. Sumoylation at the C-terminal lysine cluster plays an essential role in nuclear trafficking.
Sequence Similarities
Belongs to the ubiquitin-activating E1 family.
Cellular localization
- Cytoplasm
- Nucleus
- Shuttles between the cytoplasm and the nucleus, sumoylation is required either for nuclear translocation or nuclear retention.
Alternative names
SAE2, UBLE1B, HRIHFB2115, UBA2, SUMO-activating enzyme subunit 2, Anthracycline-associated resistance ARX, Ubiquitin-like 1-activating enzyme E1B, Ubiquitin-like modifier-activating enzyme 2