SMG6

SMG6 nonsense mediated mRNA decay factor
PDB rendering based on 2dok.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2DOK​, 2HWW​, 2HWX​, 4UM2​
Identifiers
Symbols	SMG6 ; C17orf31; EST1A; SMG-6; hSMG5/7a
External IDs	OMIM: 610963 MGI: 2144117 HomoloGene: 23024 GeneCards: SMG6 Gene
EC number	3.1.-.-
Gene ontology Molecular function • endoribonuclease activity • protein binding • telomeric DNA binding • metal ion binding Cellular component • chromosome, telomeric region • nucleus • telomerase holoenzyme complex • nucleolus • cytoplasm • cytosol • exon-exon junction complex Biological process • nuclear-transcribed mRNA catabolic process, nonsense-mediated decay • telomere maintenance • mRNA export from nucleus • gene expression • regulation of dephosphorylation • RNA phosphodiester bond hydrolysis, endonucleolytic Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	23293	103677
Ensembl	ENSG00000070366	ENSMUSG00000038290
UniProt	Q86US8	P61406
RefSeq (mRNA)	NM_001170957	NM_001002764
RefSeq (protein)	NP_001243756	NP_001002764
Location (UCSC)	Chr 17: 2.06 – 2.3 Mb	Chr 11: 74.93 – 75.16 Mb
PubMed search

Telomerase-binding protein EST1A is an enzyme that in humans is encoded by the SMG6 gene.^[1][2][3] The C-terminus of the EST1A protein contains a PIN domain. This structure for this domain has been determined by X-ray crystallography.^[4]

References

1. Reichenbach P, Hoss M, Azzalin CM, Nabholz M, Bucher P, Lingner J (Apr 2003). "A human homolog of yeast Est1 associates with telomerase and uncaps chromosome ends when overexpressed". Curr Biol 13 (7): 568–74. doi:10.1016/S0960-9822(03)00173-8. PMID 12676087.
2. Snow BE, Erdmann N, Cruickshank J, Goldman H, Gill RM, Robinson MO, Harrington L (Apr 2003). "Functional conservation of the telomerase protein Est1p in humans". Curr Biol 13 (8): 698–704. doi:10.1016/S0960-9822(03)00210-0. PMID 12699629.
3. "Entrez Gene: SMG6 Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)".
4. Takeshita D, Zenno S, Lee WC, et al. (2006). "Crystallization and preliminary X-ray analysis of the PIN domain of human EST1A.". Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 62 (Pt 7): 656–8. doi:10.1107/S1744309106020057. PMC 2242961. PMID 16820686.

Further reading

• Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
• Nagase T, Ishikawa K, Suyama M, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 5 (5): 277–86. doi:10.1093/dnares/5.5.277. PMID 9872452.
• Hoff C, Seranski P, Mollenhauer J, et al. (2001). "Physical and transcriptional mapping of the 17p13.3 region that is frequently deleted in human cancer.". Genomics 70 (1): 26–33. doi:10.1006/geno.2000.6353. PMID 11087658.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Chiu SY, Serin G, Ohara O, Maquat LE (2003). "Characterization of human Smg5/7a: a protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1.". RNA 9 (1): 77–87. doi:10.1261/rna.2137903. PMC 1370372. PMID 12554878.
• Ohnishi T, Yamashita A, Kashima I, et al. (2004). "Phosphorylation of hUPF1 induces formation of mRNA surveillance complexes containing hSMG-5 and hSMG-7.". Mol. Cell 12 (5): 1187–200. doi:10.1016/S1097-2765(03)00443-X. PMID 14636577.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Fukuhara N, Ebert J, Unterholzner L, et al. (2005). "SMG7 is a 14-3-3-like adaptor in the nonsense-mediated mRNA decay pathway.". Mol. Cell 17 (4): 537–47. doi:10.1016/j.molcel.2005.01.010. PMID 15721257.
• Azzalin CM, Lingner J (2006). "The human RNA surveillance factor UPF1 is required for S phase progression and genome stability.". Curr. Biol. 16 (4): 433–9. doi:10.1016/j.cub.2006.01.018. PMID 16488880.
• Takeshita D, Zenno S, Lee WC, et al. (2006). "Crystallization and preliminary X-ray analysis of the PIN domain of human EST1A.". Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 62 (Pt 7): 656–8. doi:10.1107/S1744309106020057. PMC 2242961. PMID 16820686.
• Glavan F, Behm-Ansmant I, Izaurralde E, Conti E (2007). "Structures of the PIN domains of SMG6 and SMG5 reveal a nuclease within the mRNA surveillance complex.". EMBO J. 25 (21): 5117–25. doi:10.1038/sj.emboj.7601377. PMC 1630413. PMID 17053788.
• Takeshita D, Zenno S, Lee WC, et al. (2007). "Crystal structure of the PIN domain of human telomerase-associated protein EST1A.". Proteins 68 (4): 980–9. doi:10.1002/prot.21351. PMID 17557331.