Property Summary

NCBI Gene PubMed Count 41
PubMed Score 31.83
PubTator Score 28.51

Knowledge Summary

Patent

No data available

Expression

Protein-protein Interaction (6)

Gene RIF (15)

PMID Text
25429978 A preferred sequence motif spanning most SMG6 cleavage sites has been discovered by analysis of endogenous non-sense-mediated mRNA decay targets.
25053839 SMG6 requires UPF1 and SMG1 for nonsense-mediated mRNA decay.
25013172 The study demonstrates that SMG5-SMG7 and SMG6 exhibit different and non-overlapping modes of UPF1 recognition, thus pointing at distinguished roles in integrating the complex nonsense-mediated mRNA decay interaction network.
24086375 Consistent with involvement of SMG6 in the decay process full-length nonsense-containing beta-globin mRNA was increased and the Delta169 decay intermediate was decreased in cells knocked down for SMG6.
22190034 HIV-1 PR is identified to have a physical interaction with smg-6 homolog, nonsense mediated mRNA decay factor (SMG6; EST1A) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
22011238 The tricotetrapeptide repeat-containing domain within Est1A was sufficient for interaction with hTERT.
20930030 Data show that SMG6 interacts directly with the EJC via two conserved EJC-binding motifs (EBMs).
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19584346 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
19018238 Observational study of gene-disease association. (HuGE Navigator)
17940095 Report shows that hEST1A assembles specifically with telomerase in the context of the telomerase RNA (hTR)-hTERT ribonucleoprotein, through the high affinity of hEST1A for hTR and specific protein-protein contacts with hTERT.
17557331 Structural properties of the PIN domain indicate its putative active center consisting of invariant acidic amino acid residues, which is similar to the active center of 5' nucleases.
16820686 Human EST1A is associated with most or all active telomerase and is involved either directly or indirectly in telomere elongation and telomere capping.
12676087 associated with most or all active telomerase in HeLa cell extracts; overexpression of hEST1A induces anaphase bridges due to chromosome-end fusions, and telomeric DNA persists at the fusion points

AA Sequence

MAEGLERVRISASELRGILATLAPQAGSRENMKELKEARPRKDNRRPDLEIYKPGLSRLRNKPKIKEPPG      1 - 70
SEEFKDEIVNDRDCSAVENGTQPVKDVCKELNNQEQNGPIDPENNRGQESFPRTAGQEDRSLKIIKRTKK     71 - 140
PDLQIYQPGRRLQTVSKESASRVEEEEVLNQVEQLRVEEDECRGNVAKEEVANKPDRAEIEKSPGGGRVG    141 - 210
AAKGEKGKRMGKGEGVRETHDDPARGRPGSAKRYSRSDKRRNRYRTRSTSSAGSNNSAEGAGLTDNGCRR    211 - 280
RRQDRTKERPRLKKQVSVSSTDSLDEDRIDEPDGLGPRRSSERKRHLERNWSGRGEGEQKNSAKEYRGTL    281 - 350
RVTFDAEAMNKESPMVRSARDDMDRGKPDKGLSSGGKGSEKQESKNPKQELRGRGRGILILPAHTTLSVN    351 - 420
SAGSPESAPLGPRLLFGSGSKGSRSWGRGGTTRRLWDPNNPDQKPALKTQTPQLHFLDTDDEVSPTSWGD    421 - 490
SRQAQASYYKFQNSDNPYYYPRTPGPASQYPYTGYNPLQYPVGPTNGVYPGPYYPGYPTPSGQYVCSPLP    491 - 560
TSTMSPEEVEQHMRNLQQQELHRLLRVADNQELQLSNLLSRDRISPEGLEKMAQLRAELLQLYERCILLD    561 - 630
IEFSDNQNVDQILWKNAFYQVIEKFRQLVKDPNVENPEQIRNRLLELLDEGSDFFDSLLQKLQVTYKFKL    631 - 700
EDYMDGLAIRSKPLRKTVKYALISAQRCMICQGDIARYREQASDTANYGKARSWYLKAQHIAPKNGRPYN    701 - 770
QLALLAVYTRRKLDAVYYYMRSLAASNPILTAKESLMSLFEETKRKAEQMEKKQHEEFDLSPDQWRKGKK    771 - 840
STFRHVGDDTTRLEIWIHPSHPRSSQGTESGKDSEQENGLGSLSPSDLNKRFILSFLHAHGKLFTRIGME    841 - 910
TFPAVAEKVLKEFQVLLQHSPSPIGSTRMLQLMTINMFAVHNSQLKDCFSEECRSVIQEQAAALGLAMFS    911 - 980
LLVRRCTCLLKESAKAQLSSPEDQDDQDDIKVSSFVPDLKELLPSVKVWSDWMLGYPDTWNPPPTSLDLP    981 - 1050
SHVAVDVWSTLADFCNILTAVNQSEVPLYKDPDDDLTLLILEEDRLLSGFVPLLAAPQDPCYVEKTSDKV   1051 - 1120
IAADCKRVTVLKYFLEALCGQEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEED   1121 - 1190
SEAEGSGGEDDIRELRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLA   1191 - 1260
SLARLLESRKYILVVPLIVINELDGLAKGQETDHRAGGYARVVQEKARKSIEFLEQRFESRDSCLRALTS   1261 - 1330
RGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPIRLLREVVLLTDDRNLRVKAL   1331 - 1400
TRNVPVRDIPAFLTWAQVG                                                      1401 - 1419
//

Text Mined References (48)

PMID Year Title
25429978 2015 Identification of SMG6 cleavage sites and a preferred RNA cleavage motif by global analysis of endogenous NMD targets in human cells.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
25053839 2014 A novel phosphorylation-independent interaction between SMG6 and UPF1 is essential for human NMD.
25013172 2014 Phospho-dependent and phospho-independent interactions of the helicase UPF1 with the NMD factors SMG5-SMG7 and SMG6.
24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
24086375 2013 SMG6 cleavage generates metastable decay intermediates from nonsense-containing ?-globin mRNA.
23974872 2013 Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
23319000 2014 Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
22504420 2012 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
22011238 2011 The TPR-containing domain within Est1 homologs exhibits species-specific roles in telomerase interaction and telomere length homeostasis.
21378990 2011 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
21269460 2011 Initial characterization of the human central proteome.
21145460 2010 Upf1 ATPase-dependent mRNP disassembly is required for completion of nonsense- mediated mRNA decay.
20930030 2010 SMG6 interacts with the exon junction complex via two conserved EJC-binding motifs (EBMs) required for nonsense-mediated mRNA decay.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19584346 2009 Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
19179534 2009 A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis.
19060897 2009 SMG6 promotes endonucleolytic cleavage of nonsense mRNA in human cells.
19018238 2008 Evidence for association between structural variants in lissencephaly-related genes and executive deficits in schizophrenia or bipolar patients from a Spanish isolate population.
18974281 2008 SMG6 is the catalytic endonuclease that cleaves mRNAs containing nonsense codons in metazoan.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17940095 2007 Protein RNA and protein protein interactions mediate association of human EST1A/SMG6 with telomerase.
17916692 2007 Telomeric repeat containing RNA and RNA surveillance factors at mammalian chromosome ends.
17557331 2007 Crystal structure of the PIN domain of human telomerase-associated protein EST1A.
17053788 2006 Structures of the PIN domains of SMG6 and SMG5 reveal a nuclease within the mRNA surveillance complex.
16820686 2006 Crystallization and preliminary X-ray analysis of the PIN domain of human EST1A.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16507993 2006 Regulation of cellular immortalization and steady-state levels of the telomerase reverse transcriptase through its carboxy-terminal domain.
16488880 2006 The human RNA surveillance factor UPF1 is required for S phase progression and genome stability.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15857955 2005 An anchor site-type defect in human telomerase that disrupts telomere length maintenance and cellular immortalization.
15721257 2005 SMG7 is a 14-3-3-like adaptor in the nonsense-mediated mRNA decay pathway.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14636577 2003 Phosphorylation of hUPF1 induces formation of mRNA surveillance complexes containing hSMG-5 and hSMG-7.
12699629 2003 Functional conservation of the telomerase protein Est1p in humans.
12676087 2003 A human homolog of yeast Est1 associates with telomerase and uncaps chromosome ends when overexpressed.
12554878 2003 Characterization of human Smg5/7a: a protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
11087658 2000 Physical and transcriptional mapping of the 17p13.3 region that is frequently deleted in human cancer.
9872452 1998 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.