NSMCE3 gene

NSE3 homolog, SMC5-SMC6 complex component

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011]

From UniProt:

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.

From NCBI Gene:

  • Lung disease, immunodeficiency, and chromosome breakage syndrome

From UniProt:

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. [MIM:617241]

Cytogenetic Location: 15q13.1, which is the long (q) arm of chromosome 15 at position 13.1

Molecular Location: base pairs 29,268,149 to 29,269,816 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q13.1, which is the long (q) arm of chromosome 15 at position 13.1
  • HCA4
  • LICS
  • MAGEG1
  • MAGEL3
  • NDNL2
  • NSE3