DISEASES

Disease-gene associations mined from literature

Literature associating UBA1 and hypervitaminosis A

UBA1 [ENSP00000338413]

Ubiquitin-like modifier-activating enzyme 1; Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin-proteasome system . Activates ubiquitin 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 ubiquitin-E1 thioester and free AMP . Essential for the formation of radiation-induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sites .

Synonyms:  UBA1,  UBA1p,  hUBA1,  A0A024R1A3,  P22314 ...

Linkouts:  STRING  Pharos  UniProt  OMIM