UFC1

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).

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).

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.

Ufmylated at Lys-122 (PubMed:35926457). Deufmylated by UFSP1 (PubMed:35926457).

Belongs to the ubiquitin-conjugating enzyme family. UFC1 subfamily.

CGI-126, HSPC155, UFC1, Ubiquitin-fold modifier-conjugating enzyme 1, Ufm1-conjugating enzyme 1

• entrezGene:51506
• omim:610554
• swissprot:Q9Y3C8

Proteins

Oncology

19458Da