UFC1
Domain
In absence of UBA5, the active site is solvated by water molecules thereby reducing its nucleophilic activity (PubMed:34588452). A linker region of UBA5 is required to reduce the amount of water molecules in the vicinity of the active site and elevate its nucleophilic activity (PubMed:34588452).
Function
E2-like enzyme which specifically catalyzes the second step in ufmylation (PubMed:15071506, PubMed:29868776, PubMed:30626644, PubMed:34588452, PubMed:35394863, PubMed:36121123, PubMed:38383789). Accepts the ubiquitin-like modifier UFM1 from the E1 enzyme UBA5 and forms an intermediate with UFM1 via a thioester linkage (PubMed:15071506, PubMed:29868776, PubMed:34588452, PubMed:38383789). Ufmylation is involved in various processes, such as ribosome recycling, response to DNA damage, interferon response or reticulophagy (also called ER-phagy) (PubMed:27351204, PubMed:32160526, PubMed:35394863, PubMed:37036982, PubMed:38383789).
Involvement in disease
Neurodevelopmental disorder with spasticity and poor growth
NEDSG
An autosomal recessive disorder apparent soon after birth or in early infancy. NEDSG is characterized by axial hypotonia, delayed psychomotor development, poor feeding, failure to thrive, peripheral spasticity with hyperreflexia, poor overall growth, and microcephaly in most patients. Additional variable features include contractures, facial dysmorphisms, and ocular movement abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ufmylated at Lys-122 (PubMed:35926457). Deufmylated by UFSP1 (PubMed:35926457).
Sequence Similarities
Belongs to the ubiquitin-conjugating enzyme family. UFC1 subfamily.
Alternative names
CGI-126, HSPC155, UFC1, Ubiquitin-fold modifier-conjugating enzyme 1, Ufm1-conjugating enzyme 1