LAMTOR3
Late Endosomal/Lysosomal Adaptor, MAPK and MTOR Activator 3
Gene Information Card
| Symbol | LAMTOR3 |
|---|---|
| Full Name | Late Endosomal/Lysosomal Adaptor, MAPK and MTOR Activator 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q23 |
| NCBI Gene ID | 8649 ncbi.nlm.nih.gov/gene/8649 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | Q9UHA4 |
| OMIM ID | 612317 |
| HGNC ID | 29762 |
| Aliases | MAPKSP1, PRO2403, Ragulator3, p18 |
Description
LAMTOR3 (Late Endosomal/Lysosomal Adaptor, MAPK and MTOR Activator 3) encodes a component of the Ragulator complex, which is essential for amino acid-dependent activation of mTORC1 and for MAPK signaling. The protein localizes to late endosomes and lysosomes, where it recruits and activates mTORC1 in response to nutrients. LAMTOR3 also interacts with MAPK scaffolds to regulate ERK signaling. Mutations and altered expression of LAMTOR3 have been implicated in cancer and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of mTORC1 and MAPK pathways due to LAMTOR3 overexpression or mutation | COSMIC, ClinVar |
| Neurodegenerative diseases | Impaired lysosomal signaling and autophagy | PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 12.8 | Medium |
| Liver | 10.5 | Medium |
| Kidney | 14.1 | Medium |
| Testis | 18.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 20.5 | High expression |
| HeLa | 18.2 | High expression |
| A549 | 14.7 | Medium expression |
| MCF7 | 12.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Potential loss of function |
| c.412G>A (p.Glu138Lys) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may impair Ragulator complex assembly or mTORC1 activation.
Gain of Function (GOF)
Not well documented; overexpression in tumors may enhance signaling.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• mTORC1 signaling (Reactome: R-HSA-165159)
• MAPK signaling (Reactome: R-HSA-5673001)
• Ragulator complex (Reactome: R-HSA-5632928)
Protein Summary
LAMTOR3 (p18) is a 161-amino acid protein that serves as a scaffold within the Ragulator complex. It anchors the complex to lysosomal membranes via myristoylation and palmitoylation, facilitating the recruitment of mTORC1 in response to amino acids. LAMTOR3 also binds MAPK scaffolds to modulate ERK signaling. Its structure includes a longin domain that mediates protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMTOR3 Knockout HEK293 Cell Line | EDJ-KQ50810 | Human | 8649 | Details Get a Quote |
| LAMTOR3 Knockout HeLa Cell Line | EDJ-KQ54970 | Human | 8649 | Details Get a Quote |
| LAMTOR3 Knockout A-549 Cell Line | EDJ-KQ63452 | Human | 8649 | Details Get a Quote |
| LAMTOR3 Knockout HCT 116 Cell Line | EDJ-KQ71920 | Human | 8649 | Details Get a Quote |
