SMG6
Description
The SMG6 (SMG6 nonsense mediated mRNA decay factor) is a protein-coding gene located on chromosome 17.
The SMG6 gene resides on chromosome 17 at the band 17p13.3 and contains 30 exons. It produces 3 isoforms through alternative splicing. SMG6 is one of three human homologs for Est1p found in Saccharomyces cerevisiae. It contains a PIN domain, characteristic of proteins with ribonuclease activity. SMG6 functions to bind single-stranded DNA in telomere maintenance and single-stranded RNA in nonsense-mediated mRNA decay (NMD). The C-terminus of the SMG6 protein contains a PilT N-terminus (PIN) domain. This domain's structure has been determined by X-ray crystallography. The SMG6 gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.
SMG6 is a component of the telomerase ribonucleoprotein (RNP) complex, which is essential for the replication of chromosome ends. It plays a role in telomere regulation, promoting the elongation of telomeres by TERT in vitro. Overexpression of SMG6 leads to telomere uncapping, chromosomal end-to-end fusions (with telomeric DNA persisting at the fusion points), without affecting TRF2 telomeric localization. SMG6 binds to the single-stranded 5'-(GTGTGG)(4)GTGT-3' telomeric DNA, but not to the telomerase RNA template component (TER).
SMG6 is also known as C17orf31, EST1A, SMG-6, hEST1A, hSMG5/7a.
