Gene Gene information from NCBI Gene database.
Entrez ID 8649
Gene name Late endosomal/lysosomal adaptor, MAPK and MTOR activator 3
Gene symbol LAMTOR3
Synonyms (NCBI Gene)
MAP2K1IP1MAPBPMAPKSP1MP1PRO0633Ragulator3
Chromosome 4
Chromosome location 4q23
Summary This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP
miRNA miRNA information provided by mirtarbase database.
574
miRTarBase ID miRNA Experiments Reference
MIRT005437 hsa-miR-16-5p pSILAC 18668040
MIRT030592 hsa-miR-24-3p Microarray 19748357
MIRT005437 hsa-miR-16-5p Proteomics 18668040
MIRT639164 hsa-miR-2115-5p HITS-CLIP 23824327
MIRT639163 hsa-miR-516a-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 22980980
GO:0005515 Function Protein binding IPI 20381137, 21516116, 21988832, 22980980, 25416956, 25561175, 29123114, 32296183, 33961781, 35271311, 37398436
GO:0005737 Component Cytoplasm IEA
GO:0005765 Component Lysosomal membrane IDA 29158492
GO:0005765 Component Lysosomal membrane NAS 22980980
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603296 15606 ENSG00000109270
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UHA4
Protein name Ragulator complex protein LAMTOR3 (Late endosomal/lysosomal adaptor and MAPK and MTOR activator 3) (MEK-binding partner 1) (Mp1) (Mitogen-activated protein kinase kinase 1-interacting protein 1) (Mitogen-activated protein kinase scaffold protein 1)
Protein function As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids (PubMed:20381137, PubMed:22980980, PubMed:289
PDB 1SKO , 2ZL1 , 3CPT , 5X6U , 5X6V , 5Y39 , 5Y3A , 5YK3 , 6B9X , 6EHP , 6EHR , 6NZD , 6U62 , 6ULG , 6WJ2 , 6WJ3 , 7T3A , 7T3B , 7T3C , 7UX2 , 7UXC , 7UXH , 8DHB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08923 MAPKK1_Int 3 121 Mitogen-activated protein kinase kinase 1 interacting Domain
Sequence
Sequence length 124
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
mTOR signaling pathway
  Macroautophagy
mTOR signalling
mTORC1-mediated signalling
Energy dependent regulation of mTOR by LKB1-AMPK
TP53 Regulates Metabolic Genes
MAP2K and MAPK activation
Neutrophil degranulation
Regulation of PTEN gene transcription
Amino acids regulate mTORC1
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
PERIPHERAL ARTERIAL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Brain Neoplasms Brain neoplasms Pubtator 28830458 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23341997
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23341997, 33275232 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 28606806
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 36082464 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 28830458 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 30936070 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 23341997
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 28606806
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 25661340
★☆☆☆☆
Found in Text Mining only