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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SMG1
SMG1 nonsense mediated mRNA decay associated PI3K related kinase
Chromosome 16 · 16p12.3
NCBI Gene: 23049Ensembl: ENSG00000157106.19HGNC: HGNC:30045UniProt: Q96Q15
114PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedKinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingDNA damage responsepeptidyl-serine phosphorylationregulation of telomere maintenancecontractureAbnormality of refractionneoplasmhepatocellular carcinoma
✦AI Summary

SMG1 is a serine/threonine protein kinase that functions as a central coordinator of mRNA surveillance and genotoxic stress response. Its primary role involves phosphorylating UPF1 to initiate nonsense-mediated decay (NMD), which selectively eliminates mRNAs containing premature stop codons 1. SMG1 operates within the SURF complex (SMG1-UPF1-eRF1-eRF3) and associates with the exon junction complex through UPF2 to activate NMD 2. Mechanistically, SMG8 and SMG9 inhibit SMG1 kinase activity through a kinase inhibitory domain; GTP hydrolysis of SMG9 restores SMG1 activity 1. Beyond NMD, SMG1 exhibits DNA damage response functions overlapping with ATM, phosphorylating p53 for optimal activation following genotoxic stress 3. SMG1 also regulates alternative splicing of TP53 pre-mRNA in DNA damage pathways, promoting cellular senescence independently of its NMD role 3. Clinical significance is substantial. Heterozygous SMG1 mutations causing reduced gene dosage impair NMD activity and affect nervous system development, associated with developmental delay and oculomotor apraxia 4. In cancer, IL-6/STAT3 signaling induces SMG1 expression, silencing frameshift-derived neoantigens through enhanced NMD, representing a novel immunoediting mechanism 5. Conversely, SMG1 inhibition increases neoantigen presentation on HLA class I molecules, enhancing immunotherapy responsiveness 6. KMT2D upregulates SMG1 to antagonize mTOR and induce ferroptosis in lymphomas 7.

Sources cited
1
SMG1 phosphorylates UPF1 to initiate NMD; SMG8-SMG9 complex inhibits SMG1 kinase activity through a kinase inhibitory domain
PMID: 31729466
2
SMG1-Upf1-eRF complex binds to Upf2 on exon junction complex; proteasome inhibitors and SMG1 knockdown cause Upf1/Upf2 accumulation
PMID: 24173962
3
ATM represses SMG1 kinase activity after ionizing radiation; SMG1 regulates TP53 alternative splicing independently of NMD function to promote senescence
PMID: 36921295
4
Heterozygous SMG1 mutations reducing gene dosage impair NMD activity; reduced NMD affects cortical organoid development in models
PMID: 40403878
5
IL-6/STAT3 signaling induces SMG1 expression to silence frameshift-derived neoantigens through NMD, serving as neoantigen immunoediting mechanism
PMID: 36443756
6
SMG1 inhibitor KVS0001 disrupts UPF1 phosphorylation, increases transcripts from truncating mutations, and enhances HLA class I neoantigen presentation
PMID: 39960487
7
KMT2D upregulates SMG1 via H3K4Me1 histone methylation to antagonize mTOR pathway and induce ferroptosis in DLBCL
PMID: 40577529
8
SMG1 is one of four transcripts commonly expressed with Tregs in breast cancer; combination predicts favorable checkpoint inhibitor response
PMID: 38710724
Disease Associationsⓘ20
contractureOpen Targets
0.31Weak
Abnormality of refractionOpen Targets
0.16Weak
neoplasmOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.11Weak
cancerOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Suggestive
COVID-19Open Targets
0.10Suggestive
breast angiosarcomaOpen Targets
0.09Suggestive
ovarian cancerOpen Targets
0.09Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
major depressive disorderOpen Targets
0.08Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.08Suggestive
SepsisOpen Targets
0.08Suggestive
cirrhosis of liverOpen Targets
0.08Suggestive
acute respiratory distress syndromeOpen Targets
0.08Suggestive
Duane retraction syndromeOpen Targets
0.08Suggestive
breast neoplasmOpen Targets
0.08Suggestive
strokeOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ETF1Protein interaction100%DHX34Protein interaction100%GSPT1Protein interaction100%NCBP2Protein interaction100%MLST8Protein interaction99%GSPT2Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
72%
Ovary
68%
Liver
63%
Heart
62%
Brain
49%
Gene Interaction Network
Click a node to explore
SMG1ETF1DHX34GSPT1NCBP2MLST8GSPT2
PROTEIN STRUCTURE
Preparing viewer…
PDB7PW8 · 2.82 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.10Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.07 [0.05–0.10]
RankingsWhere SMG1 stands among ~20K protein-coding genes
  • #4,169of 20,598
    Most Researched114 · top quartile
  • #60of 17,882
    Most Constrained (LOEUF)0.10 · top 1%
Genes detectedSMG1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
IL-6/STAT3 signaling in tumor cells restricts the expression of frameshift-derived neoantigens by SMG1 induction.
PMID: 36443756
Mol Cancer · 2022
1.00
2
Proteasome inhibitors and knockdown of SMG1 cause accumulation of Upf1 and Upf2 in human cells.
PMID: 24173962
Int J Oncol · 2014
0.90
3
T-reg transcriptomic signatures identify response to check-point inhibitors.
PMID: 38710724
Sci Rep · 2024
0.80
4
Cryo-EM structure of SMG1-SMG8-SMG9 complex.
PMID: 31729466
Cell Res · 2019
0.70
5
Identification of nonsense-mediated decay inhibitors that alter the tumor immune landscape.
PMID: 39960487
Elife · 2025
0.60