SMG7 Gene
SMG7 nonsense mediated mRNA decay factor
Gene Information Card
| Symbol | SMG7 |
|---|---|
| Full Name | SMG7 nonsense mediated mRNA decay factor |
| Gene Type | protein-coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 9887 ncbi.nlm.nih.gov/gene/9887 |
| Ensembl ID | ENSG00000116698 |
| UniProt ID | Q92540 |
| OMIM ID | 610964 |
| HGNC ID | 24568 |
| Aliases | EST1C, C1orf16, FLJ10849, KIAA0737, SGA56M |
Description
SMG7 (SMG7 nonsense mediated mRNA decay factor) encodes a protein essential for nonsense-mediated mRNA decay (NMD), a surveillance pathway that degrades mRNAs containing premature termination codons. The protein interacts with SMG5 and SMG6 to recruit the mRNA degradation machinery. SMG7 is also involved in telomere maintenance and DNA damage response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | SMG7 mutations may impair NMD, leading to accumulation of truncated proteins and tumorigenesis | ClinVar, COSMIC |
| Colorectal cancer | Loss of SMG7 function reduces NMD efficiency, promoting oncogenic transcript stability | COSMIC |
| Hepatocellular carcinoma | SMG7 downregulation correlates with poor prognosis and altered mRNA surveillance | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Spleen | 11.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | Embryonic kidney, high expression |
| HeLa | 14.7 | Cervical carcinoma, moderate |
| K562 | 10.2 | Leukemia, moderate |
| HepG2 | 7.8 | Hepatocellular carcinoma, low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | p.Arg412Trp, potential loss of NMD function |
| c.567_568del | Frameshift | <0.01% | Premature stop, loss of function |
| c.890A>G | Missense | 0.02% | p.Asn297Ser, uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in SMG7 impair NMD activity, leading to accumulation of aberrant transcripts.
Gain of Function (GOF)
No documented gain-of-function mutations for SMG7.
Dominant Negative (DN)
Not reported for SMG7.
View complete mutation data：
Gene Ontology (GO)
| • nonsense-mediated mRNA decay | • mRNA catabolic process |
| • telomere maintenance | • protein binding |
| • cytoplasm | • nucleus |
Pathways
• Nonsense-Mediated Decay (NMD) - Reactome R-HSA-927802
• mRNA Surveillance Pathway - KEGG hsa03015
Protein Summary
SMG7 is a 1,098-amino acid protein that contains an N-terminal phosphoserine-binding domain (14-3-3-like) and a C-terminal domain involved in mRNA decay. It forms a complex with SMG5 and SMG6 to recognize phosphorylated UPF1 and recruit the CCR4-NOT deadenylase complex, triggering mRNA degradation. SMG7 also localizes to telomeres and participates in telomere length regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMG7 Knockout HEK293 Cell Line | EDJ-KQ6801 | Human | 9887 | Details Get a Quote |
| SMG7 Knockout HCT 116 Cell Line | EDJ-KQ29943 | Human | 9887 | Details Get a Quote |
| SMG7 Knockout HeLa Cell Line | EDJ-KQ31298 | Human | 9887 | Details Get a Quote |
| SMG7 Knockout A-549 Cell Line | EDJ-KQ63751 | Human | 9887 | Details Get a Quote |
