Aliases for LAMTOR4 Gene

Aliases for LAMTOR4 Gene

  • Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 4 2 3 5
  • Late Endosomal/Lysosomal Adaptor And MAPK And MTOR Activator 4 3 4
  • Ragulator Complex Protein LAMTOR4 3 4
  • C7orf59 3 4
  • Chromosome 7 Open Reading Frame 59 2
  • UPF0539 Protein C7orf59 3
  • LAMTOR4 5

External Ids for LAMTOR4 Gene

Previous HGNC Symbols for LAMTOR4 Gene

  • C7orf59

Previous GeneCards Identifiers for LAMTOR4 Gene

  • GC07P099747

Summaries for LAMTOR4 Gene

GeneCards Summary for LAMTOR4 Gene

LAMTOR4 (Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 4) is a Protein Coding gene. 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 LAMTOR4 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.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LAMTOR4 Gene

Genomics for LAMTOR4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LAMTOR4 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 LAMTOR4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LAMTOR4

Genomic Locations for LAMTOR4 Gene

Latest Assembly
chr7:100,140,177-100,155,944
(GRCh38/hg38)
Size:
15,768 bases
Orientation:
Plus strand

Previous Assembly
chr7:99,746,541-99,751,826
(GRCh37/hg19 by Entrez Gene)
Size:
5,286 bases
Orientation:
Plus strand

chr7:99,746,530-99,753,567
(GRCh37/hg19 by Ensembl)
Size:
7,038 bases
Orientation:
Plus strand

Genomic View for LAMTOR4 Gene

Genes around LAMTOR4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMTOR4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMTOR4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMTOR4 Gene

Proteins for LAMTOR4 Gene

  • Protein details for LAMTOR4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0VGL1-LTOR4_HUMAN
    Recommended name:
    Ragulator complex protein LAMTOR4
    Protein Accession:
    Q0VGL1

    Protein attributes for LAMTOR4 Gene

    Size:
    99 amino acids
    Molecular mass:
    10741 Da
    Quaternary structure:
    • Part of the Ragulator complex composed of LAMTOR1, LAMTOR2, LAMTOR3, LAMTOR4 and LAMTOR5 (PubMed:22980980). LAMTOR4 and LAMTOR5 form a heterodimer that interacts, through LAMTOR1, with a LAMTOR2, LAMTOR3 heterodimer (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: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).

    Three dimensional structures from OCA and Proteopedia for LAMTOR4 Gene

neXtProt entry for LAMTOR4 Gene

Post-translational modifications for LAMTOR4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LAMTOR4 Gene

Domains & Families for LAMTOR4 Gene

Gene Families for LAMTOR4 Gene

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

Protein Domains for LAMTOR4 Gene

InterPro:

Suggested Antigen Peptide Sequences for LAMTOR4 Gene

GenScript: Design optimal peptide antigens:
  • UPF0539 protein C7orf59 (CG059_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q0VGL1

UniProtKB/Swiss-Prot:

LTOR4_HUMAN :
  • Belongs to the LAMTOR4 family.
Family:
  • Belongs to the LAMTOR4 family.
genes like me logo Genes that share domains with LAMTOR4: view

Function for LAMTOR4 Gene

Molecular function for LAMTOR4 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.

Phenotypes From GWAS Catalog for LAMTOR4 Gene

Gene Ontology (GO) - Molecular Function for LAMTOR4 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 23414517
GO:0060090 contributes_to molecular adaptor activity IDA 22980980
genes like me logo Genes that share ontologies with LAMTOR4: view
genes like me logo Genes that share phenotypes with LAMTOR4: view

miRNA for LAMTOR4 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAMTOR4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LAMTOR4 Gene

Localization for LAMTOR4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMTOR4 Gene

Lysosome.

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 LAMTOR4 gene
Compartment Confidence
endosome 5
lysosome 5
extracellular 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LAMTOR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IBA,IDA 22980980
GO:0005765 lysosomal membrane TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0071986 Ragulator complex IEA,IDA 22980980
genes like me logo Genes that share ontologies with LAMTOR4: view

Pathways & Interactions for LAMTOR4 Gene

genes like me logo Genes that share pathways with LAMTOR4: view

Pathways by source for LAMTOR4 Gene

Gene Ontology (GO) - Biological Process for LAMTOR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007050 cell cycle arrest TAS --
GO:0008361 regulation of cell size IMP 22980980
GO:0016241 regulation of macroautophagy TAS --
GO:0032008 positive regulation of TOR signaling IEA,IMP 22980980
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with LAMTOR4: view

No data available for SIGNOR curated interactions for LAMTOR4 Gene

Drugs & Compounds for LAMTOR4 Gene

No Compound Related Data Available

Transcripts for LAMTOR4 Gene

mRNA/cDNA for LAMTOR4 Gene

3 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
12 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 LAMTOR4

Alternative Splicing Database (ASD) splice patterns (SP) for LAMTOR4 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d
SP1: - - - - -
SP2: - - - -
SP3: - - -
SP4: - -
SP5: -
SP6: - - - - - - - -
SP7: - -
SP8: - - - -
SP9: - - -

Relevant External Links for LAMTOR4 Gene

GeneLoc Exon Structure for
LAMTOR4

Expression for LAMTOR4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LAMTOR4 Gene

Protein differential expression in normal tissues from HIPED for LAMTOR4 Gene

This gene is overexpressed in Monocytes (10.4), Hair follicle (9.3), and Bone marrow stromal cell (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LAMTOR4 Gene



Protein tissue co-expression partners for LAMTOR4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LAMTOR4

SOURCE GeneReport for Unigene cluster for LAMTOR4 Gene:

Hs.406520

Evidence on tissue expression from TISSUES for LAMTOR4 Gene

  • Skin(4.5)
  • Nervous system(4.4)
  • Kidney(2.4)
genes like me logo Genes that share expression patterns with LAMTOR4: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LAMTOR4 Gene

Orthologs for LAMTOR4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LAMTOR4 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia LAMTOR4 29 30
  • 92.93 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LAMTOR4 29 30
  • 91.25 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LAMTOR4 30
  • 91 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lamtor4 29
  • 90.57 (n)
Mouse
(Mus musculus)
Mammalia Lamtor4 29 16 30
  • 89.9 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LAMTOR4 30
  • 67 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia LAMTOR4 30
  • 30 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii LAMTOR4 30
  • 66 (a)
OneToOne
si:dkey-159a18.7 29
  • 65.66 (n)
Species where no ortholog for LAMTOR4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for LAMTOR4 Gene

ENSEMBL:
Gene Tree for LAMTOR4 (if available)
TreeFam:
Gene Tree for LAMTOR4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LAMTOR4: view image
Alliance of Genome Resources:
Additional Orthologs for LAMTOR4

Paralogs for LAMTOR4 Gene

No data available for Paralogs for LAMTOR4 Gene

Variants for LAMTOR4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LAMTOR4 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs113315077 Benign: not provided 100,153,961(+) C/G
NM_001008395.4(LAMTOR4):c.297C>G (p.Val99=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LAMTOR4 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 LAMTOR4 Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV deletion 23290073
nsv428180 CNV gain 18775914
nsv469687 CNV loss 16826518
nsv607931 CNV loss 21841781

Variation tolerance for LAMTOR4 Gene

Residual Variation Intolerance Score: 63.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LAMTOR4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMTOR4
Leiden Open Variation Database (LOVD)
LAMTOR4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMTOR4 Gene

Disorders for LAMTOR4 Gene

Additional Disease Information for LAMTOR4

No disorders were found for LAMTOR4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LAMTOR4 Gene

Publications for LAMTOR4 Gene

  1. Ragulator is a GEF for the rag GTPases that signal amino acid levels to mTORC1. (PMID: 22980980) Bar-Peled L … Sabatini DM (Cell 2012) 2 3 4
  2. C7orf59/LAMTOR4 phosphorylation and structural flexibility modulate Ragulator assembly. (PMID: 31314152) Rasheed N … Smetana JHC (FEBS open bio 2019) 2 3
  3. 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
  4. 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
  5. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. (PMID: 32694731) Aregger M … Moffat J (Nature metabolism 2020) 3

Products for LAMTOR4 Gene

Sources for LAMTOR4 Gene