LAMTOR1
Late Endosomal/Lysosomal Adaptor, MAPK and MTOR Activator 1
Gene Information Card
| Symbol | LAMTOR1 |
|---|---|
| Full Name | Late Endosomal/Lysosomal Adaptor, MAPK and MTOR Activator 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 55004 ncbi.nlm.nih.gov/gene/55004 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | Q6IAA8 |
| OMIM ID | 616414 |
| HGNC ID | 26079 |
| Aliases | p18, C11orf59, FLJ10895, Ragulator1 |
Description
LAMTOR1 (Late Endosomal/Lysosomal Adaptor, MAPK and MTOR Activator 1) encodes a protein component of the Ragulator complex, which is essential for amino acid-dependent activation of mTORC1 and for MAPK signaling. The protein localizes to the lysosomal membrane and recruits mTORC1 to the lysosomal surface, enabling its activation by Rheb. LAMTOR1 also plays a role in cell growth, proliferation, and autophagy regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) | Loss of LAMTOR1 function may contribute to dysregulated mTORC1 signaling, promoting tumorigenesis. | PMID: 23583978 |
| Non-small cell lung cancer | Overexpression of LAMTOR1 correlates with poor prognosis and increased mTORC1 activity. | PMID: 29281825 |
| Neurodegenerative disorders (e.g., Alzheimer's disease) | Impaired lysosomal function and autophagy due to LAMTOR1 dysregulation may contribute to protein aggregation. | PMID: 31073040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.3 | Medium |
| Brain | 8.7 | Low |
| Liver | 15.6 | Medium |
| Lung | 18.2 | Medium |
| Kidney | 22.1 | High |
| Testis | 25.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 20.5 | High expression |
| HeLa | 18.3 | High expression |
| A549 | 15.7 | Medium expression |
| MCF7 | 12.1 | Medium expression |
| K562 | 8.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.1% | Loss of start codon, likely loss of function |
| c.124C>T (p.Arg42Cys) | Missense | <0.1% | Unknown significance |
| c.205_206insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations are predicted to result in loss of LAMTOR1 function, impairing mTORC1 activation.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been characterized.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • lysosomal membrane |
| • mTORC1 complex | • signal transduction |
| • positive regulation of TOR signaling | • endosome to lysosome transport |
Pathways
• mTOR signaling pathway (KEGG: hsa04150)
• Ragulator complex in amino acid sensing
• MAPK signaling pathway
Protein Summary
LAMTOR1 (p18) is a 161-amino-acid protein that anchors the Ragulator complex to the lysosomal membrane via myristoylation and palmitoylation. It is essential for the recruitment and activation of mTORC1 in response to amino acids. The protein also interacts with MAPK scaffolds to regulate ERK signaling. LAMTOR1 is ubiquitously expressed and its dysregulation is implicated in cancer and metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMTOR1 Knockout HEK293 Cell Line | EDJ-KQ1147 | Human | 55004 | Details Get a Quote |
| LAMTOR1 Knockout A-549 Cell Line | EDJ-KQ20369 | Human | 55004 | Details Get a Quote |
| LAMTOR1 Knockout HCT 116 Cell Line | EDJ-KQ20370 | Human | 55004 | Details Get a Quote |
| LAMTOR1 Knockout HeLa Cell Line | EDJ-KQ20371 | Human | 55004 | Details Get a Quote |
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