Gene Gene information from NCBI Gene database.
Entrez ID 389541
Gene name Late endosomal/lysosomal adaptor, MAPK and MTOR activator 4
Gene symbol LAMTOR4
Synonyms (NCBI Gene)
C7orf59
Chromosome 7
Chromosome location 7q22.1
miRNA miRNA information provided by mirtarbase database.
4
miRTarBase ID miRNA Experiments Reference
MIRT032024 hsa-miR-16-5p Proteomics 18668040
MIRT043434 hsa-miR-331-3p CLASH 23622248
MIRT042451 hsa-miR-424-5p CLASH 23622248
MIRT039053 hsa-miR-766-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 22980980
GO:0005515 Function Protein binding IPI 22980980, 23414517, 25416956, 25561175, 25567906, 29123114, 32296183, 33961781, 37398436
GO:0005764 Component Lysosome IBA
GO:0005764 Component Lysosome IDA 22980980
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618834 33772 ENSG00000188186
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q0VGL1
Protein name Ragulator complex protein LAMTOR4 (Late endosomal/lysosomal adaptor and MAPK and MTOR activator 4) [Cleaved into: Ragulator complex protein LAMTOR4, N-terminally processed]
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:22980980, PubMed:28935770, PubMed:291
PDB 5VOK , 5X6U , 5X6V , 5Y38 , 5Y39 , 5Y3A , 5YK3 , 5YK5 , 6B9X , 6EHP , 6EHR , 6NZD , 6U62 , 6ULG , 6WJ2 , 6WJ3 , 7T3A , 7T3B , 7T3C , 7UX2 , 7UXC , 7UXH , 8DHB
Family and domains
Sequence
MTSALTQGLERIPDQLGYLVLSEGAVLASSGDLENDEQAASAISELVSTACGFRLHRGMN
VPFKRLSVVFGEHTLLVTVSGQRVFVVKRQNRGREPIDV
Sequence length 99
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mTOR signaling pathway   Macroautophagy
mTOR signalling
mTORC1-mediated signalling
Energy dependent regulation of mTOR by LKB1-AMPK
TP53 Regulates Metabolic Genes
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.).
2
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM 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
Alzheimer Disease Alzheimer disease Pubtator 34654853 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations