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 kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicat... See more...

Aliases for LAMTOR3 Gene

Aliases for LAMTOR3 Gene

  • Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 3 2 3 5
  • Mitogen-Activated Protein Kinase Kinase 1 Interacting Protein 1 2 3
  • Late Endosomal/Lysosomal Adaptor And MAPK And MTOR Activator 3 3 4
  • Mitogen-Activated Protein Kinase Scaffold Protein 1 3 4
  • Ragulator Complex Protein LAMTOR3 3 4
  • MAPK Scaffold Protein 1 2 3
  • Ragulator3 2 3
  • MAP2K1IP1 3 4
  • MAPKSP1 3 4
  • MAPBP 2 3
  • MP1 2 3
  • Mitogen-Activated Protein Kinase Kinase 1-Interacting Protein 1 4
  • MEK Binding Partner 1 3
  • MEK-Binding Partner 1 4
  • MEK Partner 1 2
  • PRO0633 3
  • LAMTOR3 5
  • Mp1 4

External Ids for LAMTOR3 Gene

Previous HGNC Symbols for LAMTOR3 Gene

  • MAP2K1IP1
  • MAPKSP1

Previous GeneCards Identifiers for LAMTOR3 Gene

  • GC04M100800

Summaries for LAMTOR3 Gene

Entrez Gene Summary for LAMTOR3 Gene

  • 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 kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [provided by RefSeq, Aug 2011]

GeneCards Summary for LAMTOR3 Gene

LAMTOR3 (Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 3) is a Protein Coding gene. Diseases associated with LAMTOR3 include Spontaneous Ocular Nystagmus and Piebald Trait. Among its related pathways are RET signaling and Macroautophagy. 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 LAMTOR3 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. Adapter protein that enhances the efficiency of the MAP kinase cascade facilitating the activation of MAPK2.

Gene Wiki entry for LAMTOR3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LAMTOR3 Gene

Genomics for LAMTOR3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LAMTOR3 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 LAMTOR3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LAMTOR3

Genomic Locations for LAMTOR3 Gene

Latest Assembly
chr4:99,878,336-99,894,546
(GRCh38/hg38)
Size:
16,211 bases
Orientation:
Minus strand

Previous Assembly
chr4:100,799,493-100,815,703
(GRCh37/hg19 by Entrez Gene)
Size:
16,211 bases
Orientation:
Minus strand

chr4:100,799,493-100,815,647
(GRCh37/hg19 by Ensembl)
Size:
16,155 bases
Orientation:
Minus strand

Genomic View for LAMTOR3 Gene

Genes around LAMTOR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMTOR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMTOR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMTOR3 Gene

Proteins for LAMTOR3 Gene

  • Protein details for LAMTOR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHA4-LTOR3_HUMAN
    Recommended name:
    Ragulator complex protein LAMTOR3
    Protein Accession:
    Q9UHA4
    Secondary Accessions:
    • B2R4A1
    • J3KMX4
    • Q9H364

    Protein attributes for LAMTOR3 Gene

    Size:
    124 amino acids
    Molecular mass:
    13623 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 LAMTOR1 and LAMTOR2; 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). 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 MAP2K1/MEK1 and MAPK2 (By similarity). Interacts with MORG1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for LAMTOR3 Gene

    Alternative splice isoforms for LAMTOR3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LAMTOR3 Gene

Post-translational modifications for LAMTOR3 Gene

  • Ubiquitination at Lys62
  • Modification sites at PhosphoSitePlus

Other Protein References for LAMTOR3 Gene

No data available for DME Specific Peptides for LAMTOR3 Gene

Domains & Families for LAMTOR3 Gene

Gene Families for LAMTOR3 Gene

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

Protein Domains for LAMTOR3 Gene

InterPro:

Suggested Antigen Peptide Sequences for LAMTOR3 Gene

GenScript: Design optimal peptide antigens:
  • Mitogen-activated protein kinase scaffold protein 1 (LTOR3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UHA4

UniProtKB/Swiss-Prot:

LTOR3_HUMAN :
  • Belongs to the LAMTOR3 family.
Family:
  • Belongs to the LAMTOR3 family.
genes like me logo Genes that share domains with LAMTOR3: view

Function for LAMTOR3 Gene

Molecular function for LAMTOR3 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. Adapter protein that enhances the efficiency of the MAP kinase cascade facilitating the activation of MAPK2.

Phenotypes From GWAS Catalog for LAMTOR3 Gene

Gene Ontology (GO) - Molecular Function for LAMTOR3 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:0019209 kinase activator activity IEA --
GO:0060090 contributes_to molecular adaptor activity IDA 22980980
genes like me logo Genes that share ontologies with LAMTOR3: view
genes like me logo Genes that share phenotypes with LAMTOR3: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAMTOR3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LAMTOR3 Gene

Localization for LAMTOR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMTOR3 Gene

Late endosome membrane. Peripheral membrane protein. Cytoplasmic side.

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 LAMTOR3 gene
Compartment Confidence
endosome 5
plasma membrane 4
extracellular 4
lysosome 4
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for LAMTOR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane TAS --
GO:0005768 endosome IEA --
GO:0005770 late endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion HDA 21423176
genes like me logo Genes that share ontologies with LAMTOR3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LAMTOR3 Gene

Pathways & Interactions for LAMTOR3 Gene

PathCards logo

SuperPathways for LAMTOR3 Gene

SuperPathway Contained pathways
1 RET signaling
2 mTOR signalling
3 Innate Immune System
4 MAPK signaling pathway
5 ERK Signaling
.61
.58
genes like me logo Genes that share pathways with LAMTOR3: view

Pathways by source for LAMTOR3 Gene

1 R&D Systems pathway for LAMTOR3 Gene
2 Qiagen pathways for LAMTOR3 Gene
  • ERK Signaling
  • MAPK Signaling
1 Cell Signaling Technology pathway for LAMTOR3 Gene

SIGNOR curated interactions for LAMTOR3 Gene

Activates:

Gene Ontology (GO) - Biological Process for LAMTOR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity IEA --
GO:0007050 cell cycle arrest TAS --
GO:0016241 regulation of macroautophagy TAS --
GO:0032006 regulation of TOR signaling IEA --
genes like me logo Genes that share ontologies with LAMTOR3: view

Drugs & Compounds for LAMTOR3 Gene

No Compound Related Data Available

Transcripts for LAMTOR3 Gene

mRNA/cDNA for LAMTOR3 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
3 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 LAMTOR3

Alternative Splicing Database (ASD) splice patterns (SP) for LAMTOR3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1:
SP2: -

Relevant External Links for LAMTOR3 Gene

GeneLoc Exon Structure for
LAMTOR3

Expression for LAMTOR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LAMTOR3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LAMTOR3 Gene

This gene is overexpressed in Nasal epithelium (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LAMTOR3 Gene



Protein tissue co-expression partners for LAMTOR3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LAMTOR3

SOURCE GeneReport for Unigene cluster for LAMTOR3 Gene:

Hs.433332

Evidence on tissue expression from TISSUES for LAMTOR3 Gene

  • Blood(4.5)
  • Nervous system(4.5)
  • Lymph node(4.3)
  • Lung(4.3)
  • Spleen(4.2)
  • Kidney(2.2)
  • Skin(2.1)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with LAMTOR3: 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 LAMTOR3 Gene

Orthologs for LAMTOR3 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMTOR3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LAMTOR3 29 30
  • 99.73 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gm5900 30
  • 98 (a)
OneToMany
Lamtor3 29 16 30
  • 89.52 (n)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia LAMTOR3 30
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia LAMTOR3 29 30
  • 94.89 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LAMTOR3 29 30
  • 93.55 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lamtor3 29
  • 88.71 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia LAMTOR3 30
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LAMTOR3 29 30
  • 79.3 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LAMTOR3 30
  • 99 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lamtor3 29
  • 77.69 (n)
Zebrafish
(Danio rerio)
Actinopterygii lamtor3 29 30
  • 75.54 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4304 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000997 29
  • 52.62 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG5110 29 30
  • 51.24 (n)
OneToOne
Species where no ortholog for LAMTOR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 LAMTOR3 Gene

ENSEMBL:
Gene Tree for LAMTOR3 (if available)
TreeFam:
Gene Tree for LAMTOR3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LAMTOR3: view image
Alliance of Genome Resources:
Additional Orthologs for LAMTOR3

Paralogs for LAMTOR3 Gene

Pseudogenes.org Pseudogenes for LAMTOR3 Gene

genes like me logo Genes that share paralogs with LAMTOR3: view

No data available for Paralogs for LAMTOR3 Gene

Variants for LAMTOR3 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LAMTOR3 Gene

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

Variation tolerance for LAMTOR3 Gene

Residual Variation Intolerance Score: 48.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.04; 1.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LAMTOR3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMTOR3
Leiden Open Variation Database (LOVD)
LAMTOR3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for LAMTOR3 Gene

Disorders for LAMTOR3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LAMTOR3 Gene - From: COP

Disorder Aliases PubMed IDs
spontaneous ocular nystagmus
  • ocular nystagmus
piebald trait
  • pbt
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LAMTOR3

genes like me logo Genes that share disorders with LAMTOR3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LAMTOR3 Gene

Publications for LAMTOR3 Gene

  1. The structure of the MAPK scaffold, MP1, bound to its partner, p14. A complex with a critical role in endosomal map kinase signaling. (PMID: 15016825) Lunin VV … Sacher M (The Journal of biological chemistry 2004) 2 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. 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
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for LAMTOR3 Gene

Sources for LAMTOR3 Gene