LAMTOR4
Late Endosomal/Lysosomal Adaptor, MAPK and MTOR Activator 4
Gene Information Card
| Symbol | LAMTOR4 |
|---|---|
| Full Name | Late Endosomal/Lysosomal Adaptor, MAPK and MTOR Activator 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 389541 ncbi.nlm.nih.gov/gene/389541 |
| Ensembl ID | ENSG00000188021 |
| UniProt ID | Q0VGL1 |
| OMIM ID | 617517 |
| HGNC ID | 33794 |
| Aliases | C7orf59, FLJ21616, MGC24047 |
Description
LAMTOR4 (Late Endosomal/Lysosomal Adaptor, MAPK and MTOR Activator 4) encodes a component of the Ragulator complex, which is a pentameric complex that anchors the Rag GTPases to the lysosomal membrane. The Ragulator complex is essential for amino acid-dependent activation of mTORC1 and also plays a role in the MAPK signaling pathway. LAMTOR4 directly interacts with LAMTOR2 and LAMTOR3 to form a subcomplex that is critical for the stability and function of the Ragulator.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not applicable | Not applicable |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 9.8 | Medium |
| Adrenal gland | 8.2 | Medium |
| Lymph node | 7.1 | Low |
| Brain | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 12.1 | Medium expression |
| K562 | 10.4 | Medium expression |
| A549 | 9.2 | Medium expression |
| HepG2 | 8.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • lysosome (GO:0005764) | • protein-containing complex (GO:0032991) |
| • regulation of TOR signaling (GO:0032006) | • positive regulation of MAPK cascade (GO:0043410) |
Pathways
• Ragulator complex (R-HSA-5632928)
• mTORC1 signaling (R-HSA-165159)
• MAPK signaling (R-HSA-5683057)
Protein Summary
LAMTOR4 is a 99-amino acid protein (11.5 kDa) that localizes to the lysosomal membrane as part of the Ragulator complex. It contains no known enzymatic domains but is essential for the structural integrity of the Ragulator. The protein interacts with LAMTOR2 and LAMTOR3 to form a stable subcomplex that recruits Rag GTPases, enabling amino acid sensing and subsequent activation of mTORC1. LAMTOR4 is ubiquitously expressed with highest levels in testis and thyroid.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LAMTOR4 Knockout HEK293 Cell Line | EDJ-KQ1148 | Human | 389541 | Details Get a Quote |
| LAMTOR4 Knockout HCT 116 Cell Line | EDJ-KQ20372 | Human | 389541 | Details Get a Quote |
| LAMTOR4 Knockout HeLa Cell Line | EDJ-KQ20373 | Human | 389541 | Details Get a Quote |
| LAMTOR4 Knockout A-549 Cell Line | EDJ-KQ68552 | Human | 389541 | Details Get a Quote |
| LAMTOR4 Knockout HAP1 Cell Line | EDC07803 | Human | 389541 | Details Get a Quote |
