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Aliases for LAMTOR1 Gene

Aliases for LAMTOR1 Gene

  • Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 1 2 3 5
  • Protein Associated With DRMs And Endosomes 2 3 4
  • Late Endosomal/Lysosomal Adaptor And MAPK And MTOR Activator 1 3 4
  • P27kip1 Releasing Factor From RhoA 2 3
  • P27Kip1-Releasing Factor From RhoA 3 4
  • Lipid Raft Adaptor Protein P18 3 4
  • P27RF-Rho 3 4
  • C11orf59 3 4
  • PDRO 3 4
  • Chromosome 11 Open Reading Frame 59 2
  • Ragulator Complex Protein LAMTOR1 3
  • Ragulator Complex Protein PDRO 3
  • RhoA Activator C11orf59 3
  • Ragulator1 3
  • P18 3

External Ids for LAMTOR1 Gene

Previous HGNC Symbols for LAMTOR1 Gene

  • C11orf59

Previous GeneCards Identifiers for LAMTOR1 Gene

  • GC11M071809

Summaries for LAMTOR1 Gene

GeneCards Summary for LAMTOR1 Gene

LAMTOR1 (Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 1) is a Protein Coding gene. Among its related pathways are Gene Expression and Translational Control. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and protein-containing complex scaffold activity.

UniProtKB/Swiss-Prot for LAMTOR1 Gene

  • 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. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. LAMTOR1 is directly responsible for anchoring the Ragulator complex to membranes. Also required for late endosomes/lysosomes biogenesis it may regulate both the recycling of receptors through endosomes and the MAPK signaling pathway through recruitment of some of its components to late endosomes. May be involved in cholesterol homeostasis regulating LDL uptake and cholesterol release from late endosomes/lysosomes. May also play a role in RHOA activation.

Additional gene information for LAMTOR1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMTOR1 Gene

Genomics for LAMTOR1 Gene

GeneHancer (GH) Regulatory Elements for LAMTOR1 Gene

Promoters and enhancers for LAMTOR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J072098 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.6 1578 6 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 LAMTOR1 FAM86C1 NUMA1 LOC100128494 LRTOMT ZNF705E RNF121 IL18BP OR7E128P ENSG00000204971
GH11J072110 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.4 -9.6 -9638 4.6 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 FOLR3 ANAPC15 LAMTOR1 NUMA1 IL18BP NADSYN1 LOC100128494 FAM86C1 LRTOMT OR7E128P
GH11J072037 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 11 +62.5 62538 6.7 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B NEUROD1 SIN3A FEZF1 LRTOMT NUMA1 FAM86C1 LOC100128494 LAMTOR1 ANAPC15 FOLR3 IL18BP RNF121 PHOX2A
GH11J071995 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 10.2 +104.9 104877 5.1 PKNOX1 ARNT TCF12 ZFP91 ATF7 NCOA1 REST ZNF592 MBD2 SMARCA4 IL18BP LRTOMT RNF121 LOC100133315 LAMTOR1 ANAPC15 FAM86C1 GC11P072002
GH11J072139 Enhancer 0.9 Ensembl ENCODE dbSUPER 17 -38.0 -37954 2.9 GTF3C2 FOSL1 JUND JUN MAX ZC3H11A FOS LOC100128494 NUMA1 IL18BP FOLR3 ZNF705E RNF121 NADSYN1 FAM86C1 LAMTOR1 ANAPC15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LAMTOR1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for LAMTOR1 Gene

Genomic Locations for LAMTOR1 Gene
chr11:72,085,895-72,103,387
(GRCh38/hg38)
Size:
17,493 bases
Orientation:
Minus strand
chr11:71,796,941-71,814,433
(GRCh37/hg19)
Size:
17,493 bases
Orientation:
Minus strand

Genomic View for LAMTOR1 Gene

Genes around LAMTOR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMTOR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMTOR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMTOR1 Gene

Proteins for LAMTOR1 Gene

  • Protein details for LAMTOR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IAA8-LTOR1_HUMAN
    Recommended name:
    Ragulator complex protein LAMTOR1
    Protein Accession:
    Q6IAA8
    Secondary Accessions:
    • Q8WZ09
    • Q9NWT0

    Protein attributes for LAMTOR1 Gene

    Size:
    161 amino acids
    Molecular mass:
    17745 Da
    Quaternary structure:
    • Part of the Ragulator complex composed of LAMTOR1, LAMTOR2, LAMTOR3, LAMTOR4 and LAMTOR5. LAMTOR4 and LAMTOR5 form a heterodimer that interacts, through LAMTOR1, with a LAMTOR2, LAMTOR3 heterodimer. The Ragulator complex interacts with both the mTORC1 complex and heterodimers constituted of the Rag GTPases RRAGA, RRAGB, RRAGC and RRAGD; regulated by amino acid availability (PubMed:20381137, PubMed:22980980). The Ragulator complex interacts with SLC38A9; the probable amino acid sensor (PubMed:25561175, PubMed:25567906). Interacts with LAMTOR2 and LAMTOR3; the interaction is direct. Interacts with RRAGB and RRAGD; the interaction is direct indicating that it probably constitutes the main RAG-interacting subunit of the Ragulator complex (PubMed:22980980). Interacts with MMP14 (PubMed:19654316). Interacts with CDKN1B; prevents the interaction of CDKN1B with RHOA leaving RHOA in a form accessible to activation by ARHGEF2 (PubMed:19654316).

    Three dimensional structures from OCA and Proteopedia for LAMTOR1 Gene

neXtProt entry for LAMTOR1 Gene

Post-translational modifications for LAMTOR1 Gene

  • Ubiquitination at Lys31
  • Modification sites at PhosphoSitePlus

Other Protein References for LAMTOR1 Gene

No data available for DME Specific Peptides for LAMTOR1 Gene

Domains & Families for LAMTOR1 Gene

Gene Families for LAMTOR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LAMTOR1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LAMTOR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6IAA8

UniProtKB/Swiss-Prot:

LTOR1_HUMAN :
  • Belongs to the LAMTOR1 family.
Family:
  • Belongs to the LAMTOR1 family.
genes like me logo Genes that share domains with LAMTOR1: view

Function for LAMTOR1 Gene

Molecular function for LAMTOR1 Gene

UniProtKB/Swiss-Prot 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. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. LAMTOR1 is directly responsible for anchoring the Ragulator complex to membranes. Also required for late endosomes/lysosomes biogenesis it may regulate both the recycling of receptors through endosomes and the MAPK signaling pathway through recruitment of some of its components to late endosomes. May be involved in cholesterol homeostasis regulating LDL uptake and cholesterol release from late endosomes/lysosomes. May also play a role in RHOA activation.
UniProtKB/Swiss-Prot Induction:
Down-regulated by cholesterol (at protein level).

Gene Ontology (GO) - Molecular Function for LAMTOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 contributes_to guanyl-nucleotide exchange factor activity IDA 22980980
GO:0005515 protein binding IPI 20381137
GO:0032947 contributes_to protein-containing complex scaffold activity IDA 22980980
GO:0051020 GTPase binding IPI 22424946
genes like me logo Genes that share ontologies with LAMTOR1: view
genes like me logo Genes that share phenotypes with LAMTOR1: view

Animal Models for LAMTOR1 Gene

MGI Knock Outs for LAMTOR1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAMTOR1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LAMTOR1 Gene

Localization for LAMTOR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMTOR1 Gene

Late endosome membrane; Lipid-anchor; Cytoplasmic side. Lysosome membrane; Lipid-anchor; Cytoplasmic side. Cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LAMTOR1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
endosome 5
golgi apparatus 3
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Plasma membrane (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LAMTOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA,IEA 20544018
GO:0005765 lysosomal membrane TAS --
GO:0005768 endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LAMTOR1: view

Pathways & Interactions for LAMTOR1 Gene

genes like me logo Genes that share pathways with LAMTOR1: view

Pathways by source for LAMTOR1 Gene

1 KEGG pathway for LAMTOR1 Gene
2 Cell Signaling Technology pathways for LAMTOR1 Gene

Gene Ontology (GO) - Biological Process for LAMTOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth IMP 20381137
GO:0001919 regulation of receptor recycling ISS,IEA --
GO:0007032 endosome organization IEA,ISS --
GO:0007040 lysosome organization ISS,IEA --
GO:0007050 cell cycle arrest TAS --
genes like me logo Genes that share ontologies with LAMTOR1: view

No data available for SIGNOR curated interactions for LAMTOR1 Gene

Drugs & Compounds for LAMTOR1 Gene

No Compound Related Data Available

Transcripts for LAMTOR1 Gene

mRNA/cDNA for LAMTOR1 Gene

Unigene Clusters for LAMTOR1 Gene

Late endosomal/lysosomal adaptor, MAPK and MTOR activator 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAMTOR1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAMTOR1 Gene

No ASD Table

Relevant External Links for LAMTOR1 Gene

GeneLoc Exon Structure for
LAMTOR1
ECgene alternative splicing isoforms for
LAMTOR1

Expression for LAMTOR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LAMTOR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LAMTOR1 Gene

This gene is overexpressed in Nasal epithelium (13.5) and Bone (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LAMTOR1 Gene



Protein tissue co-expression partners for LAMTOR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of LAMTOR1 Gene:

LAMTOR1

SOURCE GeneReport for Unigene cluster for LAMTOR1 Gene:

Hs.731528

Evidence on tissue expression from TISSUES for LAMTOR1 Gene

  • Liver(4.3)
  • Skin(4.3)
  • Muscle(2.8)
  • Blood(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with LAMTOR1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LAMTOR1 Gene

Orthologs for LAMTOR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMTOR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAMTOR1 34 33
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LAMTOR1 34 33
  • 95.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LAMTOR1 34 33
  • 94.41 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lamtor1 16 34 33
  • 92.55 (n)
rat
(Rattus norvegicus)
Mammalia LOC100361543 33
  • 92.55 (n)
oppossum
(Monodelphis domestica)
Mammalia LAMTOR1 34
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMTOR1 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAMTOR1 34 33
  • 81.89 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LAMTOR1 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lamtor1 33
  • 71.43 (n)
MGC76299 33
African clawed frog
(Xenopus laevis)
Amphibia flj20625-prov 33
zebrafish
(Danio rerio)
Actinopterygii lamtor1 34 33
  • 67.5 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5423 33
fruit fly
(Drosophila melanogaster)
Insecta CG14184 34
  • 30 (a)
OneToOne
Species where no ortholog for LAMTOR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LAMTOR1 Gene

ENSEMBL:
Gene Tree for LAMTOR1 (if available)
TreeFam:
Gene Tree for LAMTOR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LAMTOR1: view image

Paralogs for LAMTOR1 Gene

No data available for Paralogs for LAMTOR1 Gene

Variants for LAMTOR1 Gene

Sequence variations from dbSNP and Humsavar for LAMTOR1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs12272086 benign, likely-benign, not specified, Nonsyndromic Hearing Loss, Recessive 72,104,998(-) G/C upstream_transcript_variant
rs876657865 uncertain-significance, not specified 72,104,982(-) A/C upstream_transcript_variant
rs1000813349 -- 72,098,753(-) G/T intron_variant
rs1000886750 -- 72,097,314(-) C/T 3_prime_UTR_variant
rs1001460409 -- 72,098,479(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LAMTOR1 Gene

Variant ID Type Subtype PubMed ID
nsv384 CNV insertion 18451855

Variation tolerance for LAMTOR1 Gene

Residual Variation Intolerance Score: 69.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.56; 12.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LAMTOR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMTOR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMTOR1 Gene

Disorders for LAMTOR1 Gene

Additional Disease Information for LAMTOR1

No disorders were found for LAMTOR1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LAMTOR1 Gene

Publications for LAMTOR1 Gene

  1. Metabolism. Lysosomal amino acid transporter SLC38A9 signals arginine sufficiency to mTORC1. (PMID: 25567906) Wang S … Sabatini DM (Science (New York, N.Y.) 2015) 3 4 58
  2. SLC38A9 is a component of the lysosomal amino acid sensing machinery that controls mTORC1. (PMID: 25561175) Rebsamen M … Superti-Furga G (Nature 2015) 3 4 58
  3. Ragulator is a GEF for the rag GTPases that signal amino acid levels to mTORC1. (PMID: 22980980) Bar-Peled L … Sabatini DM (Cell 2012) 3 4 58
  4. Pdro, a protein associated with late endosomes and lysosomes and implicated in cellular cholesterol homeostasis. (PMID: 20544018) Guillaumot P … Manié SN (PloS one 2010) 3 4 58
  5. Ragulator-Rag complex targets mTORC1 to the lysosomal surface and is necessary for its activation by amino acids. (PMID: 20381137) Sancak Y … Sabatini DM (Cell 2010) 3 4 58

Products for LAMTOR1 Gene

Sources for LAMTOR1 Gene

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