NSMCE3
Function
Component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination (PubMed:20864041, PubMed:27427983). The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). In vitro enhances ubiquitin ligase activity of NSMCE1. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex (PubMed:20864041). May be a growth suppressor that facilitates the entry of the cell into cell cycle arrest (By similarity).
Involvement in disease
Lung disease, immunodeficiency, and chromosome breakage syndrome
LICS
An autosomal recessive chromosome breakage syndrome associated with severe, fatal lung disease in early childhood, following viral pneumonia. LICS is characterized by combined T and B-cell immunodeficiency. Some patients may have mild dysmorphic features.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Ubiquitous.
Cellular localization
- Cytoplasm
- Nucleus
- Chromosome
- Telomere
Alternative names
HCA4, MAGEG1, NDNL2, NSMCE3, Non-structural maintenance of chromosomes element 3 homolog, Non-SMC element 3 homolog, Hepatocellular carcinoma-associated protein 4, MAGE-G1 antigen, Melanoma-associated antigen G1, Necdin-like protein 2