SAMTOR (S-adenosylmethionine Sensor Upstream of mTORC1)
A key regulator of mTORC1 signaling in response to methionine and SAM availability
Gene Information Card
| Symbol | SAMTOR |
|---|---|
| Full Name | S-adenosylmethionine sensor upstream of mTORC1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 100526760 ncbi.nlm.nih.gov/gene/100526760 |
| Ensembl ID | ENSG00000205755 |
| UniProt ID | A0A1B0GTV5 |
| OMIM ID | 618676 |
| HGNC ID | 53844 |
| Aliases | C7orf50, SAMTOR, FLJ45831 |
Description
SAMTOR is a protein-coding gene that encodes a direct sensor of S-adenosylmethionine (SAM), a key metabolite in one-carbon metabolism. SAMTOR binds SAM via its SAM-binding domain and, in the absence of SAM, interacts with GATOR1 to inhibit mTORC1 signaling. When SAM levels are sufficient, SAMTOR dissociates from GATOR1, relieving inhibition and activating mTORC1. This mechanism links methionine availability to cell growth and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of SAMTOR-mTORC1 axis may promote uncontrolled growth under methionine restriction | PMID: 31073040 |
| Metabolic disorders | Altered SAM sensing may disrupt nutrient-responsive signaling | PMID: 31073040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Liver | 10.5 | Medium |
| Kidney | 8.3 | Low |
| Brain | 6.1 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Moderate expression |
| HeLa | 9.5 | Moderate expression |
| HepG2 | 7.8 | Low expression |
| K562 | 6.2 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional effect |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in SAMTOR are predicted to impair SAM binding, leading to constitutive inhibition of mTORC1 and reduced cell growth.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data:
Gene Ontology (GO)
| • protein binding (GO:0005515) | • RNA binding (GO:0003723) |
| • ATP binding (GO:0005524) | • cytoplasm (GO:0005737) |
| • regulation of TOR signaling (GO:0032006) |
Pathways
• mTORC1 signaling
• Methionine metabolism
• Amino acid sensing
Protein Summary
The SAMTOR protein is a cytoplasmic sensor of S-adenosylmethionine. It contains a SAM-binding domain and interacts with the GATOR1 complex to regulate mTORC1 activity. Under low SAM conditions, SAMTOR binds GATOR1, inhibiting mTORC1; high SAM levels cause dissociation, activating mTORC1. This protein thus couples methionine availability to cell growth control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAMTOR Knockout A-549 Cell Line | EDJ-KQ41557 | Human | 154743 | Details Get a Quote |
| SAMTOR Knockout HCT 116 Cell Line | EDJ-KQ41558 | Human | 154743 | Details Get a Quote |
| SAMTOR Knockout HeLa Cell Line | EDJ-KQ41559 | Human | 154743 | Details Get a Quote |
| SAMTOR Knockout HEK293 Cell Line | EDJ-KQ52075 | Human | 154743 | Details Get a Quote |
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