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SMG6 (SMG6 nonsense mediated mRNA decay factor)
Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23293
Gene nameGene Name - the full gene name approved by the HGNC.
SMG6 nonsense mediated mRNA decay factor
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SMG6
SynonymsGene synonyms aliases
C17orf31, EST1A, SMG-6, hSMG5/7a
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.3
SummarySummary of gene provided in NCBI Entrez 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]
miRNAmiRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT029580 hsa-miR-26b-5p Microarray 19088304
MIRT043517 hsa-miR-331-3p CLASH 23622248
MIRT045363 hsa-miR-185-5p CLASH 23622248
MIRT048902 hsa-miR-93-5p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IBA 21873635
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP 18974281, 19060897, 20930030
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS 16488880
GO:0000781 Component Chromosome, telomeric region IEA
GO:0003723 Function RNA binding IPI 17940095
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q86US8
Protein name Telomerase-binding protein EST1A (EC 3.1.-.-) (EST1-like protein A) (Ever shorter telomeres 1A) (Smg-6 homolog) (Telomerase subunit EST1A) (hSmg5/7a)
Protein function 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).
PDB 2DOK , 2HWW , 2HWX , 4UM2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10374 EST1
638 → 743
Telomerase activating protein Est1
 Family
PF10373 EST1_DNA_bind
751 → 1107
Est1 DNA/RNA binding domain
 Family
PF13638 PIN_4
1248 → 1409
PIN domain
 Domain
Sequence 
MAEGLERVRISASELRGILATLAPQAGSRENMKELKEARPRKDNRRPDLEIYKPGLSRLR
NKPKIKEPPGSEEFKDEIVNDRDCSAVENGTQPVKDVCKELNNQEQNGPIDPENNRGQES
FPRTAGQEDRSLKIIKRTKKPDLQIYQPGRRLQTVSKESASRVEEEEVLNQVEQLRVEED
ECRGNVAKEEVANKPDRAEIEKSPGGGRVGAAKGEKGKRMGKGEGVRETHDDPARGRPGS
AKRYSRSDKRRNRYRTRSTSSAGSNNSAEGAGLTDNGCRRRRQDRTKERPRLKKQVSVSS
TDSLDEDRIDEPDGLGPRRSSERKRHLERNWSGRGEGEQKNSAKEYRGTLRVTFDAEAMN
KESPMVRSARDDMDRGKPDKGLSSGGKGSEKQESKNPKQELRGRGRGILILPAHTTLSVN
SAGSPESAPLGPRLLFGSGSKGSRSWGRGGTTRRLWDPNNPDQKPALKTQTPQLHFLDTD
DEVSPTSWGDSRQAQASYYKFQNSDNPYYYPRTPGPASQYPYTGYNPLQYPVGPTNGVYP
GPYYPGYPTPSGQYVCSPLPTSTMSPEEVEQHMRNLQQQELHRLLRVADNQELQLSNLLS
RDRISPEGLEKMAQLRAELLQLYERCILLDIEFSDNQNVDQILWKNAFYQVIEKFRQLVK
DPNVENPEQIRNRLLELLDEGSDFFDSLLQKLQVTYKFKLEDYMDGLAIRSKPLRKTVKY
ALISAQRCMICQGDIARYREQASDTANYGKARSWYLKAQHIAPKNGRPYNQLALLAVYTR
RKLDAVYYYMRSLAASNPILTAKESLMSLFEETKRKAEQMEKKQHEEFDLSPDQWRKGKK
STFRHVGDDTTRLEIWIHPSHPRSSQGTESGKDSEQENGLGSLSPSDLNKRFILSFLHAH
GKLFTRIGMETFPAVAEKVLKEFQVLLQHSPSPIGSTRMLQLMTINMFAVHNSQLKDCFS
EECRSVIQEQAAALGLAMFSLLVRRCTCLLKESAKAQLSSPEDQDDQDDIKVSSFVPDLK
ELLPSVKVWSDWMLGYPDTWNPPPTSLDLPSHVAVDVWSTLADFCNILTAVNQSEVPLYK
DPDDDLTLLILEEDRLLSGFVPLLAAPQDPCYVEKTSDKVIAADCKRVTVLKYFLEALCG
QEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGED
DIRELRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLA
SLARLLESRKYILVVPLIVINELDGLAKGQETDHRAGGYARVVQEKARKSIEFLEQRFES
RDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPI
RLLREVVLLTDDRNLRVKALTRNVPVRDIPAFLTWAQVG
Sequence length 1419
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  mRNA surveillance pathway   Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Associated diseases
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs-1, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 29483656
Coronary artery disease CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1, Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 23202125, 29212778, 24262325, 28714975, 26343387
Coronary heart disease Coronary heart disease rs-1 24262325, 21378990
Carcinoma Squamous cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 22960999
Unknown
Disease name Disease term dbSNP ID References
Eczema Eczema 30595370
Knee osteoarthritis Osteoarthritis, Knee 30664745

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