TIPRL: TOR Signaling Pathway Regulator
A key modulator of mTORC1 signaling and cellular stress responses
Gene Information Card
| Symbol | TIPRL |
|---|---|
| Full Name | TOR signaling pathway regulator |
| Gene Type | protein-coding |
| Chromosomal Location | 1q24.2 |
| NCBI Gene ID | 261726 ncbi.nlm.nih.gov/gene/261726 |
| Ensembl ID | ENSG00000143190 |
| UniProt ID | Q6IAA8 |
| OMIM ID | 614441 |
| HGNC ID | 26376 |
| Aliases | TIPRL1, TIP, TORIP1 |
Description
TIPRL (TOR signaling pathway regulator) encodes a protein that negatively regulates mTORC1 signaling by interacting with the TOR signaling complex. It plays a role in cellular responses to stress, including amino acid deprivation and energy depletion, and is implicated in cancer progression through modulation of cell growth and autophagy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of TIPRL promotes mTORC1 activation and tumor growth | PMID: 23431171 |
| Colorectal cancer | TIPRL upregulation correlates with poor prognosis and enhanced proliferation | PMID: 27562873 |
| Breast cancer | TIPRL expression associated with mTOR pathway activation and metastasis | PMID: 28723887 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Brain | 6.1 | Low |
| Testis | 15.2 | Medium |
| Lung | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.4 | Hepatocellular carcinoma cell line |
| HEK293 | 14.2 | Embryonic kidney cells |
| MCF7 | 11.0 | Breast cancer cell line |
| HCT116 | 16.7 | Colorectal carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287C>T (p.Pro96Leu) | Missense | 0.02% | Unknown functional impact |
| c.451G>A (p.Glu151Lys) | Missense | 0.01% | Potential loss of function |
| c.634_635insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely lead to loss of TIPRL protein function, impairing mTORC1 regulation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in TIPRL.
Dominant Negative (DN)
No evidence for dominant-negative effects in TIPRL.
View complete mutation data：
Gene Ontology (GO)
| • regulation of TOR signaling (GO:0032006) | • regulation of autophagy (GO:0010506) |
| • negative regulation of DNA damage response (GO:0043517) | • cytosol (GO:0005829) |
| • nucleus (GO:0005634) |
Pathways
• mTOR signaling pathway (KEGG: hsa04150)
• Autophagy (KEGG: hsa04140)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
Protein Summary
The TIPRL protein (UniProt Q6IAA8) is a 272-amino acid regulator of mTORC1 signaling. It contains a conserved TIPRL domain and interacts with the TOR complex to suppress signaling under stress conditions. The protein is localized in the cytosol and nucleus, and its dysregulation contributes to oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TIPRL Knockout HEK293 Cell Line | EDJ-KQ52184 | Human | 261726 | Details Get a Quote |
| TIPRL Knockout HeLa Cell Line | EDJ-KQ59350 | Human | 261726 | Details Get a Quote |
| TIPRL Knockout A-549 Cell Line | EDJ-KQ67813 | Human | 261726 | Details Get a Quote |
| TIPRL Knockout HCT 116 Cell Line | EDJ-KQ76199 | Human | 261726 | Details Get a Quote |
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