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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SMG6
SMG6 nonsense mediated mRNA decay factor
Chromosome 17 · 17p13.3
NCBI Gene: 23293Ensembl: ENSG00000070366.15HGNC: HGNC:17809UniProt: Q86US8
86PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
exon-exon junction complexRNA bindingRNA endonuclease activityprotein bindingneurodegenerative diseaseschizophreniaosteoarthritis, kneeosteoarthritis
✦AI Summary

SMG6 is a central component of the nonsense-mediated mRNA decay (NMD) pathway that functions as both an RNA endonuclease and regulatory adapter protein. The protein exhibits endonucleolytic activity that cleaves single-stranded RNA substrates to initiate mRNA degradation 1. SMG6 interacts with the key NMD factor UPF1 through both phosphorylation-dependent and phosphorylation-independent mechanisms, with the latter involving a conserved short linear motif that binds to UPF1's cysteine/histidine-rich domain 23. This interaction is mutually exclusive with UPF2 binding to UPF1, suggesting distinct conformational states regulate NMD complex formation 2. SMG6 functions redundantly with SMG7 in targeting the same mRNA substrates, indicating overlapping roles in the endo- and exonucleolytic decay pathways 4. Beyond NMD, SMG6 also associates with telomerase through protein-RNA and protein-protein interactions, binding telomerase RNA with high affinity 5. Clinically, SMG6 variants show protective effects against temporal lobe epilepsy, with reduced SMG6 expression correlating with decreased seizure frequency 6. The protein also influences HIV-1 reactivation, negatively regulating viral gene expression through its interaction with UPF1 7.

Sources cited
1
SMG6 contains a conserved short linear motif that interacts with UPF1's CH domain in a mutually exclusive manner with UPF2
PMID: 38709891
2
SMG6 functions as an endonuclease that cleaves single-stranded RNA substrates at specific sites in NMD targets
PMID: 25429978
3
SMG6 exhibits both phosphorylation-dependent and phosphorylation-independent interactions with UPF1
PMID: 25013172
4
SMG6 and SMG7 act redundantly on the same mRNA targets, showing extensive overlap between degradation pathways
PMID: 27864472
5
SMG6 interacts with telomerase through both protein-RNA and protein-protein contacts, binding telomerase RNA with high affinity
PMID: 17940095
6
SMG6 genetic variants provide protective effects against temporal lobe epilepsy with reduced expression correlating with decreased seizure frequency
PMID: 29363864
7
SMG6 negatively regulates HIV-1 reactivation through interaction with UPF1
PMID: 29954456
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
schizophreniaOpen Targets
0.28Weak
osteoarthritis, kneeOpen Targets
0.28Weak
osteoarthritisOpen Targets
0.27Weak
coronary artery diseaseOpen Targets
0.27Weak
atrial fibrillationOpen Targets
0.25Weak
atrial flutterOpen Targets
0.23Weak
heart diseaseOpen Targets
0.23Weak
androgenetic alopeciaOpen Targets
0.21Weak
cardiovascular diseaseOpen Targets
0.17Weak
hemorrhageOpen Targets
0.17Weak
Myocardial IschemiaOpen Targets
0.17Weak
myocardial infarctionOpen Targets
0.17Weak
osteoarthritis, hipOpen Targets
0.16Weak
heart failureOpen Targets
0.16Weak
corpus callosum agenesis-abnormal genitalia syndromeOpen Targets
0.15Weak
glaucomaOpen Targets
0.15Weak
angina pectorisOpen Targets
0.14Weak
SnoringOpen Targets
0.14Weak
hypertensionOpen Targets
0.14Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UPF3AProtein interaction99%SMG9Protein interaction94%SMG8Protein interaction94%PABPC1Protein interaction93%UPF3BProtein interaction90%SULT1E1Protein interaction89%
Tissue Expression6 tissues
Brain
100%
Ovary
95%
Bone Marrow
86%
Heart
80%
Lung
54%
Liver
28%
Gene Interaction Network
Click a node to explore
SMG6UPF3ASMG9SMG8PABPC1UPF3BSULT1E1
PROTEIN STRUCTURE
Preparing viewer…
PDB2DOK · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.56Moderately Constrained
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.45 [0.36–0.56]
RankingsWhere SMG6 stands among ~20K protein-coding genes
  • #5,575of 20,598
    Most Researched86
  • #3,580of 17,882
    Most Constrained (LOEUF)0.56 · top quartile
Genes detectedSMG6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
UPF1 helicase orchestrates mutually exclusive interactions with the SMG6 endonuclease and UPF2.
PMID: 38709891
Nucleic Acids Res · 2024
1.00
2
A novel phosphorylation-independent interaction between SMG6 and UPF1 is essential for human NMD.
PMID: 25053839
Nucleic Acids Res · 2014
0.90
3
Protein RNA and protein protein interactions mediate association of human EST1A/SMG6 with telomerase.
PMID: 17940095
Nucleic Acids Res · 2007
0.80
4
SRR intronic variation inhibits expression of its neighbouring SMG6 gene and protects against temporal lobe epilepsy.
PMID: 29363864
J Cell Mol Med · 2018
0.70
5
Phospho-dependent and phospho-independent interactions of the helicase UPF1 with the NMD factors SMG5-SMG7 and SMG6.
PMID: 25013172
Nucleic Acids Res · 2014
0.60