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
  • P27RF-Rho 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
  • Ragulator Complex Protein LAMTOR1 3 4
  • Lipid Raft Adaptor Protein P18 3 4
  • Ragulator1 2 3
  • C11orf59 3 4
  • PDRO 3 4
  • P18 2 3
  • Chromosome 11 Open Reading Frame 59 2
  • Ragulator Complex Protein PDRO 3
  • RhoA Activator C11orf59 3
  • FLJ20625 2
  • LAMTOR1 5
  • Pdro 2

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. Diseases associated with LAMTOR1 include Cone-Rod Dystrophy 2. Among its related pathways are Macroautophagy and TP53 Regulates Metabolic Genes. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and protein-containing complex scaffold activity.

UniProtKB/Swiss-Prot Summary 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.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LAMTOR1 Gene

Genomics for LAMTOR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LAMTOR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAMTOR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LAMTOR1

Genomic Locations for LAMTOR1 Gene

Latest Assembly
chr11:72,085,895-72,103,297
(GRCh38/hg38)
Size:
17,403 bases
Orientation:
Minus strand

Previous Assembly
chr11:71,808,338-71,814,343
(GRCh37/hg19 by Entrez Gene)
Size:
6,006 bases
Orientation:
Minus strand

chr11:71,796,941-71,814,433
(GRCh37/hg19 by Ensembl)
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 (PubMed:20381137, PubMed:22980980). LAMTOR4 and LAMTOR5 form a heterodimer that interacts, through LAMTOR1, with a LAMTOR2, LAMTOR3 heterodimer (PubMed:20381137, PubMed:22980980). Interacts with LAMTOR2 and LAMTOR3; the interaction is direct (PubMed:20381137, PubMed:22980980). 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). Component of the lysosomal folliculin complex (LFC), composed of FLCN, FNIP1 (or FNIP2), RRAGA/RagA or RRAGB/RagB GDP-bound, RRAGC/RagC or RRAGD/RagD GTP-bound, and Ragulator (PubMed:31704029, PubMed:31672913). 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). Interacts with PIP4P1 (PubMed:29644770).

    Three dimensional structures from OCA and Proteopedia for LAMTOR1 Gene

neXtProt entry for LAMTOR1 Gene

Post-translational modifications for LAMTOR1 Gene

  • Ubiquitination at Lys20 and 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:

Suggested Antigen Peptide Sequences for LAMTOR1 Gene

GenScript: Design optimal peptide antigens:
  • p27Kip1-releasing factor from RhoA (LTOR1_HUMAN)

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).

Phenotypes From GWAS Catalog for LAMTOR1 Gene

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 IBA,IDA 22980980
GO:0005515 protein binding IPI 20381137
GO:0051020 GTPase binding IPI 22424946
GO:0060090 contributes_to molecular adaptor activity IDA 22980980
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:

Inhibitory RNAs for research

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

No data available for Enzyme Numbers (IUBMB) , 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
endosome 5
lysosome 5
extracellular 4
nucleus 3
golgi apparatus 3
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

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 IBA,IDA 20544018
GO:0005765 lysosomal membrane IEA,TAS --
GO:0005768 endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0010008 endosome 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

SIGNOR curated interactions for LAMTOR1 Gene

Is inactivated by:

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 IEA,ISS --
GO:0007032 endosome organization IEA,ISS --
GO:0007040 lysosome organization IEA,ISS --
GO:0007050 cell cycle arrest TAS --
genes like me logo Genes that share ontologies with LAMTOR1: view

Drugs & Compounds for LAMTOR1 Gene

No Compound Related Data Available

Transcripts for LAMTOR1 Gene

mRNA/cDNA for LAMTOR1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

No ASD Table

Relevant External Links for LAMTOR1 Gene

GeneLoc Exon Structure for
LAMTOR1

Expression for LAMTOR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LAMTOR1

SOURCE GeneReport for Unigene cluster for LAMTOR1 Gene:

Hs.731528

Evidence on tissue expression from TISSUES for LAMTOR1 Gene

  • Skin(4.5)
  • Liver(4.5)
  • Muscle(3.1)
  • Blood(2.9)
  • Kidney(2.5)
  • Nervous system(2.5)
  • Spleen(2.4)
  • Heart(2.3)
  • Intestine(2.2)
  • Lymph node(2.1)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with LAMTOR1: view

Primer products for research

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 29 30
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LAMTOR1 29 30
  • 95.24 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LAMTOR1 29 30
  • 94.41 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Lamtor1 29 16 30
  • 92.55 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100361543 29
  • 92.55 (n)
Oppossum
(Monodelphis domestica)
Mammalia LAMTOR1 30
  • 91 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LAMTOR1 30
  • 90 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LAMTOR1 29 30
  • 81.89 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LAMTOR1 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lamtor1 29
  • 71.43 (n)
MGC76299 29
African clawed frog
(Xenopus laevis)
Amphibia flj20625-prov 29
Zebrafish
(Danio rerio)
Actinopterygii lamtor1 29 30
  • 67.5 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5423 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG14184 30
  • 30 (a)
OneToOne
Species where no ortholog for LAMTOR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for LAMTOR1

Paralogs for LAMTOR1 Gene

No data available for Paralogs for LAMTOR1 Gene

Variants for LAMTOR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LAMTOR1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs1053443 -- p.Ser73Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LAMTOR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
LAMTOR1

SNP Genotyping and Copy Number Assays for research

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

Disorders for LAMTOR1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LAMTOR1 Gene - From: COP

Disorder Aliases PubMed IDs
cone-rod dystrophy 2
  • cord2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LAMTOR1

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

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

Publications for LAMTOR1 Gene

  1. TMEM55B contributes to lysosomal homeostasis and amino acid-induced mTORC1 activation. (PMID: 29644770) Hashimoto Y … Nakayama KI (Genes to cells : devoted to molecular & cellular mechanisms 2018) 3 4
  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
  3. 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
  4. 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
  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

Products for LAMTOR1 Gene

Sources for LAMTOR1 Gene