Disease-gene associations mined from literature

Literature associating UFL1 and Meier-Gorlin syndrome 8

UFL1 [ENSP00000358283]

Regulator of C53/LZAP and DDRGK1; E3 protein ligase that mediates ufmylation, the covalent attachment of the ubiquitin-like modifier UFM1 to substrate proteins, a post-translational modification on lysine residues of proteins that may play a crucial role in a number of cellular processes. Mediates DDRGK1 ufmylation and may regulate the proteasomal degradation of DDRGK1 and CDK5RAP3 thereby modulating NF-kappa-B signaling. May also through TRIP4 ufmylation play a role in nuclear receptors-mediated transcription. May play a role in the unfolded protein response, mediating the ufmylation of multiple proteins in response to endoplasmic reticulum stress.

Synonyms:  UFL1,  UFL1p,  hUFL1,  B7ZAY8,  O94874 ...

Linkouts:  STRING  Pharos  UniProt