NSMCE1
Description
The NSMCE1 (NSE1 homolog, SMC5-SMC6 complex component) is a protein-coding gene located on chromosome 16.
NSMCE1 is a RING-type zinc finger-containing E3 ubiquitin ligase that forms a complex with melanoma antigen protein (MAGE) to directly transfer ubiquitin from E2 ubiquitin-conjugating enzymes to specific substrates. Within the MAGE-RING ubiquitin ligase complex, MAGE enhances and specifies ubiquitin ligase activity, possibly by recruiting and/or stabilizing the E2 ubiquitin-conjugating enzyme at the E3:substrate complex. NSMCE1 plays a role in maintaining genome integrity, responding to DNA damage, and repairing DNA. It is part of the SMC5-SMC6 complex along with NSMCE3/MAGEG1 and may positively regulate homologous recombination-mediated DNA repair. The MAGEF1-NSMCE1 ubiquitin ligase promotes the proteasomal degradation of MMS19, a key component of the cytosolic iron-sulfur protein assembly (CIA) machinery. Reducing the levels of MMS19 hinders the activity of several DNA repair and metabolism enzymes, such as ERCC2/XPD, FANCJ, RTEL1, and POLD1, which rely on iron-sulfur clusters as cofactors.
NSMCE1 is also known as NSE1.
Associated Diseases
- endometrial cancer
- asthma
- esophageal cancer
- familial apolipoprotein C-II deficiency
- childhood onset asthma
- allergic asthma
- proteasome-associated autoinflammatory syndrome 5
- familial lipoprotein lipase deficiency
- severe congenital hypochromic anemia with ringed sideroblasts
- 46,XX ovotesticular disorder of sex development
- sideroblastic anemia 3
