Recombinant Human Non-structural maintenance of chromosomes element 3 homolog (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)

Subcellular Location

Cytoplasm; Nucleus; Chromosome, telomere

Disease Association

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. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Ubiquitous

Subunit

Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 and NSMCE3. NSMCE1, NSMCE4A or EID3 and NSMCE3 probably form a subcomplex that bridges the head domains of the SMC5:SMC6 heterodimer (PubMed:18086888). Interacts with PJA1 (PubMed:20864041). Interacts with E2F1 (via C-terminus) (By similarity). Interacts with NGFR (via C-terminus) (By similarity). Interacts with NSMCE1 (PubMed:18086888, PubMed:20864041, PubMed:21364888, PubMed:27427983). Interacts with NSMCE4 (PubMed:20864041, PubMed:27427983). Interacts with SMC6 (PubMed:18086888). Interacts with EID3 (PubMed:21364888)

• Dong X.-Y. et al. Identification of genes in the chromosome X that are differentially expressed in hepatocellular carcinoma. (MAR-)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Jikuya H. et al. The nucleotide sequence of a long cDNA clone isolated from human spleen. (JAN-)
• Lucas S. et al. Identification of new genes of the MAGE family. (OCT-)
• Chibuk T.K. et al. A necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologues. — BMC Genet. (2001)
• Taylor E.M. et al. Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex. — Mol. Cell. Biol. (2008)
• Dephoure N. et al. A quantitative atlas of mitotic phosphorylation. — Proc. Natl. Acad. Sci. U.S.A. (2008)