Version 5.4
Homo sapiens Gene: SMG6
Summary
InnateDB Gene IDBG-16046.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SMG6
Gene Name smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
Synonyms C17orf31; EST1A; hSMG5/7a; SMG-6
Species Homo sapiens
Ensembl Gene ENSG00000070366
Encoded Proteins
IDBP-16048
smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
IDBP-16050
smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
IDBP-588555
smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
IDBP-760994
IDBP-760691
IDBP-762175
IDBP-764226
IDBP-759309
IDBP-760695
IDBP-760345
IDBP-761795
IDBP-759403
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein which is part of the telomerase ribonucleoprotein complex and binds single-stranded DNA found at the telomeres, but the product of this gene also participates in the nonsense-mediated mRNA decay (NMD) pathway. The encoded protein contains two binding sites for components of the exon junction complex (EJC); interaction between the encoded protein and the EJC is necessary for NMD activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:2059839-2303771
Strand Reverse strand
Band p13.3
Transcripts
ENST00000263073 ENSP00000263073
ENST00000354901 ENSP00000346977
ENST00000536871 ENSP00000440283
ENST00000574501
ENST00000570606 ENSP00000460191
ENST00000575338
ENST00000575454 ENSP00000460273
ENST00000573166
ENST00000573827
ENST00000576218
ENST00000575176 ENSP00000466139
ENST00000570756
ENST00000570659 ENSP00000460898
ENST00000575663 ENSP00000458635
ENST00000570668 ENSP00000460301
ENST00000573153
ENST00000570874
ENST00000571442 ENSP00000459164
ENST00000572369 ENSP00000465793
ENST00000572205 ENSP00000466951
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004521 endoribonuclease activity
GO:0005515 protein binding
GO:0042162 telomeric DNA binding
GO:0046872 metal ion binding
Biological Process
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0000723 telomere maintenance
GO:0006406 mRNA export from nucleus
GO:0010467 gene expression
GO:0016070 RNA metabolic process
GO:0016071 mRNA metabolic process
GO:0035303 regulation of dephosphorylation
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic
Cellular Component
GO:0000781 chromosome, telomeric region
GO:0005634 nucleus
GO:0005697 telomerase holoenzyme complex
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0035145 exon-exon junction complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000038290
View Gene Order
ENSBTAG00000000267
Not yet available
Pathways
NETPATH
REACTOME
REACT_75822
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) pathway
REACT_75886
Nonsense-Mediated Decay (NMD) pathway
REACT_71
Gene Expression pathway
KEGG
hsa03015
mRNA surveillance pathway pathway
INOH
PID NCI
telomerasepathway
Regulation of Telomerase
Cross-References
SwissProt Q86US8
TrEMBL I3L176 I3L1W8 I3L355 I3L3A9 I3L421 K7EKV2 K7ELM2 K7ENH7
UniProt Splice Variant
Entrez Gene 23293
UniGene Hs.448342
RefSeq NM_001256828 NM_001256827 NM_017575 XM_005256569 XM_005256570 XM_005256571 XM_006721494 XM_006721495
HUGO HGNC:17809
OMIM 610963
CCDS CCDS58498 CCDS11016
HPRD 06502
IMGT
EMBL AB018275 AC090617 AK302964 AL133597 AL450226 AY145883 AY168921 BC064916 CH471108
GenPept AAH64916 AAN46114 AAO17581 BAA34452 BAH13860 CAB63733 EAW90559
RNA Seq Atlas 23293

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca