SMG6

SMG6
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2DOK, 2HWW, 2HWX, 4UM2
Identifiers
Aliases	SMG6, C17orf31, EST1A, SMG-6, hSMG5/7a, nonsense mediated mRNA decay factor, SMG6 nonsense mediated mRNA decay factor, hEST1A
External IDs	OMIM: 610963; MGI: 2144117; HomoloGene: 23024; GeneCards: SMG6; OMA:SMG6 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	2,303,785 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	75,055,274 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; left ovary; ; right testis; ; right ovary; ; left testis; ; body of uterus; ; ventricular zone; ; anterior pituitary; ; ganglionic eminence; ; right hemisphere of cerebellum;
	Top expressed in
	spermatid; ; ascending aorta; ; aortic valve; ; spermatocyte; ; genital tubercle; ; tail of embryo; ; supraoptic nucleus; ; secondary oocyte; ; ventricular zone; ; Rostral migratory stream;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA binding; telomeric DNA binding; metal ion binding; DNA polymerase binding; protein binding; nuclease activity; endonuclease activity; hydrolase activity; telomerase RNA binding; endoribonuclease activity; RNA binding; ribonucleoprotein complex binding; ribonuclease activity;
Cellular component	cytoplasm; cytosol; exon-exon junction complex; chromosome; telomere; telomerase catalytic core complex; nucleolus; telomerase holoenzyme complex; nucleus;
Biological process	nucleic acid phosphodiester bond hydrolysis; mRNA export from nucleus; negative regulation of telomere capping; regulation of dephosphorylation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; RNA phosphodiester bond hydrolysis, endonucleolytic; regulation of RNA stability; regulation of telomere maintenance; regulation of telomere maintenance via telomerase; regulation of telomerase activity; telomere maintenance via telomerase; RNA phosphodiester bond hydrolysis;
	Sources:Amigo / QuickGO
Orthologs
	23293
	103677
	ENSG00000070366
	ENSMUSG00000038290
	Q86US8
	P61406
	NM_001170957; NM_001256827; NM_001256828; NM_001282326; NM_017575
	NM_001002764
	NP_001243756; NP_001243757; NP_001269255; NP_060045
	NP_001002764
	Wikidata
View/Edit Human	View/Edit Mouse

Telomerase-binding protein EST1A is an enzyme that in humans is encoded by the SMG6 gene on chromosome 17. It is ubiquitously expressed in many tissues and cell types. The C-terminus of the EST1A protein contains a PilT N-terminus (PIN) domain. This structure for this domain has been determined by X-ray crystallography. SMG6 functions to bind single-stranded DNA in telomere maintenance and single-stranded RNA in nonsense-mediated mRNA decay (NMD). The SMG6 gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.