DISEASES

Disease-gene associations mined from literature

Literature associating UFM1 and Beukes hip dysplasia

UFM1 [ENSP00000368970]

Ubiquitin-fold modifier 1; Ubiquitin-like modifier which can be covalently attached via an isopeptide bond to substrate proteins as a monomer or a lysine- linked polymer . The so-called ufmylation, requires the UFM1-activating E1 enzyme UBA5, the UFM1-conjugating E2 enzyme UFC1, and the UFM1-ligase E3 enzyme UFL1 . This post- translational modification on lysine residues of proteins may play a crucial role in a number of cellular processes (PubMed:15071506, PubMed:20018847). TRIP4 ufmylation may for instance play a role in nuclear receptors-mediated transcription . Other substrates may include DDRGK1 with which it may play a role in the cellular response to endoplasmic reticulum stress (Probable). ECO:0000269|PubMed:25219498, ECO:0000269|PubMed:29868776,

Synonyms:  UFM1,  UFM1p,  hUFM1,  H0Y614,  P61960 ...

Linkouts:  STRING  Pharos  UniProt