Aliases for SMG6 Gene
- SMG6 Nonsense Mediated MRNA Decay Factor 2 3 5
- Telomerase-Binding Protein EST1A 3 4
- Ever Shorter Telomeres 1A 3 4
- Telomerase Subunit EST1A 3 4
- C17orf31 3 4
- EST1A 3 4
- Smg-6 Homolog, Nonsense Mediated MRNA Decay Factor (C. Elegans) 2
- EST1 Telomerase Component Homolog A (S. Cerevisiae) 2
- Smg-6 Homolog, Nonsense Mediated MRNA Decay Factor 3
- SMG6, Nonsense Mediated MRNA Decay Factor 2
External Ids for SMG6 Gene
Previous HGNC Symbols for SMG6 Gene
Previous GeneCards Identifiers for SMG6 Gene
This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]
GeneCards Summary for SMG6 Gene
SMG6 (SMG6 Nonsense Mediated MRNA Decay Factor) is a Protein Coding gene. Diseases associated with SMG6 include Pyosalpinx and Pancreatic Adenosquamous Carcinoma. Among its related pathways are Gene Expression and mRNA surveillance pathway. Gene Ontology (GO) annotations related to this gene include endoribonuclease activity and telomeric DNA binding.
UniProtKB/Swiss-Prot Summary for SMG6 Gene
Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini (PubMed:19179534). May have a general role in telomere regulation (PubMed:12676087, PubMed:12699629). Promotes in vitro the ability of TERT to elongate telomeres (PubMed:12676087, PubMed:12699629). Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the fusion points) and did not perturb TRF2 telomeric localization (PubMed:12676087, PubMed:12699629). Binds to the single-stranded 5'-(GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER) (PubMed:12676087, PubMed:12699629).
Plays a role in nonsense-mediated mRNA decay (PubMed:18974281, PubMed:19060897, PubMed:20930030, PubMed:17053788). Is thought to provide a link to the mRNA degradation machinery as it has endonuclease activity required to initiate NMD, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation (PubMed:18974281, PubMed:19060897, PubMed:20930030, PubMed:17053788). Degrades single-stranded RNA (ssRNA), but not ssDNA or dsRNA (PubMed:18974281, PubMed:19060897, PubMed:20930030, PubMed:17053788).