NSMCE3

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.

Full Name

NSE3 HOMOLOG, SMC5-SMC6 COMPLEX COMPONENT

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).

Biological Process

Cellular response to hydroxyureaManual Assertion Based On ExperimentIMP:UniProtKB
Cellular response to radiationManual Assertion Based On ExperimentIMP:UniProtKB
Cellular response to UVManual Assertion Based On ExperimentIMP:UniProtKB
DNA repairManual Assertion Based On ExperimentIMP:UniProtKB
Double-strand break repair via homologous recombination1 PublicationIC:ComplexPortal
Negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Positive regulation of protein ubiquitinationManual Assertion Based On ExperimentIDA:UniProtKB
Protein sumoylation1 PublicationIC:ComplexPortal
Regulation of growthIEA:UniProtKB-KW
Regulation of telomere maintenance1 PublicationIC:ComplexPortal

Cellular Location

Cytoplasm
Nucleus
Chromosome, telomere

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.