SMG5: A Key Regulator of Nonsense-Mediated mRNA Decay
Comprehensive gene card for SMG5, including genomic annotations, expression, mutations, and disease associations.
Gene Information Card
| Symbol | SMG5 |
|---|---|
| Full Name | SMG5 nonsense mediated mRNA decay factor |
| Gene Type | protein-coding |
| Chromosomal Location | 1q22 |
| NCBI Gene ID | 23381 ncbi.nlm.nih.gov/gene/23381 |
| Ensembl ID | ENSG00000198952 |
| UniProt ID | Q9UPR3 |
| OMIM ID | 610962 |
| HGNC ID | 24644 |
| Aliases | EST1L, SMG-5, LPTS, hSMG5 |
Description
SMG5 (SMG5 nonsense mediated mRNA decay factor) encodes a protein that is a component of the nonsense-mediated mRNA decay (NMD) pathway. The protein interacts with SMG7 and UPF1 to facilitate the degradation of mRNAs containing premature termination codons, thereby preventing the production of truncated proteins. SMG5 also plays roles in telomere maintenance and DNA damage response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered NMD efficiency may affect tumor suppressor expression; SMG5 overexpression observed in some subtypes | PMID: 25691811 |
| Colorectal cancer | SMG5 upregulation linked to poor prognosis; potential role in NMD-mediated regulation of oncogenes | PMID: 29395067 |
| Nonsense-mediated mRNA decay deficiency | Loss-of-function mutations in SMG5 impair NMD, leading to accumulation of aberrant transcripts | PMID: 24899574 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.1 | Low |
| Liver | 6.3 | Low |
| Heart | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer cell line |
| HEK293 | 11.8 | Embryonic kidney cell line |
| MCF7 | 9.5 | Breast cancer cell line |
| HCT116 | 8.7 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; premature stop codon |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function; premature stop codon |
| c.890A>G (p.Tyr297Cys) | Missense | <0.1% | Unknown; predicted damaging by SIFT |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated SMG5 protein, impairing NMD pathway.
Gain of Function (GOF)
No gain-of-function mutations reported in SMG5.
Dominant Negative (DN)
No dominant-negative mutations described for SMG5.
View complete mutation data：
Gene Ontology (GO)
| • nonsense-mediated mRNA decay (GO:0000184) | • RNA binding (GO:0003723) |
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • P-body (GO:0000932) |
Pathways
• Nonsense-Mediated Decay (NMD) - Reactome R-HSA-927802
• mRNA Surveillance Pathway - KEGG hsa03015
Protein Summary
SMG5 is a 1,087-amino acid protein containing a PIN domain and multiple tetratricopeptide repeat (TPR) motifs. It forms a complex with SMG7 and recruits protein phosphatase 2A (PP2A) to dephosphorylate UPF1, a key step in NMD. SMG5 also localizes to cytoplasmic processing bodies (P-bodies) and is involved in telomere maintenance via its interaction with EST1A.
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