DISEASES

Disease-gene associations mined from literature

SAE1 disease associations

SAE1 [ENSP00000270225]

SUMO-activating enzyme subunit 1, N-terminally processed; 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. ECO:0000269|PubMed:11451954, ECO:0000269|PubMed:11481243, ECO:0000269|PubMed:15660128, ECO:0000269|PubMed:20164921,

Synonyms:  SAE1,  SAE1p,  hSAE1,  A0A024R0R4,  B3KNJ4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM