UBE2D1
Description
The UBE2D1 (ubiquitin conjugating enzyme E2 D1) is a protein-coding gene located on chromosome 10.
UBE2D1 (Ubiquitin-conjugating enzyme E2 D1) is a human protein encoded by the UBE2D1 gene. It plays a critical role in the ubiquitination process, which targets proteins for degradation. Ubiquitination involves three classes of enzymes: E1s (ubiquitin-activating enzymes), E2s (ubiquitin-conjugating enzymes), and E3s (ubiquitin-protein ligases). UBE2D1 belongs to the E2 ubiquitin-conjugating enzyme family, and its function is closely related to SFT (stimulator of iron transport). UBE2D1 is upregulated in hereditary hemochromatosis and participates in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with E1 and E3 enzymes.
UBE2D1 accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. It also promotes the formation of Lys-48-linked polyubiquitin chains, which targets proteins for degradation. This enzyme plays a crucial role in the removal of short-lived and abnormal proteins, and it participates in the E6/E6-AP-induced ubiquitination of p53. UBE2D1 also mediates ubiquitination of PEX5 and the auto-ubiquitination of STUB1, TRAF6 and TRIM63/MURF1. Furthermore, it ubiquitinates STUB1-associated HSP90AB1 and lacks inherent specificity for any particular lysine residue of ubiquitin. UBE2D1 is essential for viral activation of IRF3 and mediates polyubiquitination of CYP3A4.
UBE2D1 is also known as E2(17)KB1, SFT, UBC4/5, UBCH5, UBCH5A.
Associated Diseases
- gluthathione peroxidase deficiency
- Rh deficiency syndrome
- hemoglobin E-beta-thalassemia syndrome
- hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- dehydrated hereditary stomatocytosis
- hemolytic anemia due to glutathione reductase deficiency
- hemoglobin D disease
- beta-thalassemia-X-linked thrombocytopenia syndrome
- elliptocytosis 2
- megaloblastic anemia, folate-responsive
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- hereditary spherocytosis type 4
- dominant beta-thalassemia
- thrombocytopenia 4
