DISEASES

Disease-gene associations mined from literature

Literature associating UBE2D1 and hemochromatosis

UBE2D1 [ENSP00000363019]

(E3-independent) E2 ubiquitin-conjugating enzyme D1; Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'-linked polyubiquitination. Mediates the selective degradation of short-lived and abnormal proteins. Functions in the E6/E6-AP-induced ubiquitination of p53/TP53. Mediates ubiquitination of PEX5 and auto-ubiquitination of STUB1, TRAF6 and TRIM63/MURF1. Ubiquitinates STUB1-associated HSP90AB1 in vitro. Lacks inherent specificity for any particular lysine residue of ubiquitin. Essential for viral activation of IRF3. Mediates polyubiquitination of CYP3A4; Ubiquitin conjugating enzymes E2

Synonyms:  UBE2D1,  UBE2D1p,  hUBE2D1,  A0A024QZJ2,  P51668 ...

Linkouts:  STRING  Pharos  UniProt  OMIM