E1-like enzyme which specifically catalyzes the first step in ufmylation. Activates ufm1 by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side ch...[+]

E1-like enzyme which specifically catalyzes the first step in ufmylation. Activates ufm1 by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ufm1-E1 thioester and free AMP. Activates ufm1 via a trans-binding mechanism, in which ufm1 interacts with distinct sites in both subunits of the uba5 homodimer. Trans-binding also promotes stabilization of the uba5 homodimer, and enhances ATP-binding. Transfer of ufm1 from uba5 to the E2-like enzyme UFC1 also takes place using a trans mechanism. Ufmylation is involved in reticulophagy (also called ER-phagy) induced in response to endoplasmic reticulum stress. [-]

             developmental and epileptic encephalopathy 44

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD