LAMTOR1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LAMTOR1provided by HGNC
Official Full Name: late endosomal/lysosomal adaptor, MAPK and MTOR activator 1provided by HGNC
Primary source: HGNC:HGNC:26068
See related: Ensembl:ENSG00000149357 MIM:613510
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: p18; PDRO; C11orf59; p27RF-Rho; Ragulator1
Expression: Ubiquitous expression in thyroid (RPKM 58.6), adrenal (RPKM 40.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.4

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	11	NC_000011.10 (72097292..72103297, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (71808338..71814343, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel gene fusion between the LAMTOR1 and AKT1 was identified in a histopathologically indeterminate epithelioid neoplasm of a patient. This fusion resulted in oncogenic activatin of AKT1.
Title: Patient-Driven Discovery, Therapeutic Targeting, and Post-Clinical Validation of a Novel <i>AKT1</i> Fusion-Driven Cancer.
The Lamtor1 dynamically controls cellular function via mTORC1 activation and lipid signaling.
Title: Roles of Lamtor1 in Macrophages, CD4+ T-cells, and Regulatory T-cells.
We found that under nutrient-rich conditions TMEM127 expression reduces mTORC1 recruitment to Rags. In addition, TMEM127 interacts with LAMTOR in an amino acid-dependent manner and decreases the LAMTOR1-vATPase association, while TMEM127-vATPase binding requires intact lysosomal acidification but is amino acid independent
Title: The TMEM127 human tumor suppressor is a component of the mTORC1 lysosomal nutrient-sensing complex.
In vitro reconstitution and experiments with site-directed mutagenesis defined the physiological importance of LAMTOR1 in assembling the remaining components to ensure fidelity of mTORC1 signaling.
Title: Crystal structure of the human lysosomal mTORC1 scaffold complex and its impact on signaling.
LAMTOR1 is a negative regulator of Arl8b- and BORC-dependent late endosomal positioning.
Title: LAMTOR/Ragulator is a negative regulator of Arl8b- and BORC-dependent late endosomal positioning.
Study found that NF1 negatively regulates mTOR signaling in a LAMTOR1-dependent manner. In addition, the cell growth and survival of NF1-deficient cells have become dependent on hyperactivation of the mTOR pathway, and the tumorigenic properties of these cells have become dependent on LAMTOR1.
Title: Clustered, Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9-coupled Affinity Purification/Mass Spectrometry Analysis Revealed a Novel Role of Neurofibromin in mTOR Signaling.
Western blot experiments designed to detect flotillin 2, TMEM256, Rab3B and LAMTOR1 showed that the level of these proteins was higher in urinary exosomes from prostate cancer patients compared to healthy males
Title: Exosomal proteins as prostate cancer biomarkers in urine: From mass spectrometry discovery to immunoassay-based validation.
Data suggest that ablation of p18/LAMTOR1 suppresses starvation-induced cell death by stimulating autophagy through modulation of p27(kip1) activity.
Title: Depletion of p18/LAMTOR1 promotes cell survival via activation of p27(kip1) -dependent autophagy under starvation.
LAMTOR1 expression affects the tuning of lysosomal activation that can lead to p53-dependent apoptosis through excessive catabolism.
Title: LAMTOR1 depletion induces p53-dependent apoptosis via aberrant lysosomal activation.
A p27(kip1)-binding protein, p27RF-Rho, promotes cancer metastasis via activation of RhoA and RhoC.
Title: A p27(kip1)-binding protein, p27RF-Rho, promotes cancer metastasis via activation of RhoA and RhoC.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20526 (e-PCR)
- UniSTS:45889

A005V05 (e-PCR)
- UniSTS:45890

MARC_24275-24276:1044473527:2 (e-PCR)
- UniSTS:268869

D11S2238E (e-PCR)
- UniSTS:22521

Homology

Homologs of the LAMTOR1 gene: The LAMTOR1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 323 organisms have orthologs with human gene LAMTOR1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
contributes_to guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to molecular adaptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
contributes_to molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
cell cycle arrest	TAS Traceable Author Statement more info
cellular protein localization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cellular protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to amino acid stimulus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cellular response to amino acid stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
endosomal transport	ISS Inferred from Sequence or Structural Similarity more info
endosome organization	ISS Inferred from Sequence or Structural Similarity more info
lysosome localization	ISS Inferred from Sequence or Structural Similarity more info
lysosome organization	ISS Inferred from Sequence or Structural Similarity more info
neutrophil degranulation	TAS Traceable Author Statement more info
positive regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of catalytic activity	IEA Inferred from Electronic Annotation more info
regulation of cell growth	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of cholesterol esterification	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of cholesterol import	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of macroautophagy	TAS Traceable Author Statement more info
regulation of receptor recycling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
regulation of receptor recycling	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
Ragulator complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
Ragulator complex	IDA Inferred from Direct Assay more info	PubMed
azurophil granule membrane	TAS Traceable Author Statement more info
extracellular exosome	HDA more info	PubMed
ficolin-1-rich granule membrane	TAS Traceable Author Statement more info
late endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
lysosomal membrane	TAS Traceable Author Statement more info
lysosome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
lysosome	IDA Inferred from Direct Assay more info	PubMed
membrane raft	ISS Inferred from Sequence or Structural Similarity more info
plasma membrane	TAS Traceable Author Statement more info
specific granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ragulator complex protein LAMTOR1

Names: RhoA activator C11orf59; late endosomal/lysosomal adaptor and MAPK and MTOR activator 1; lipid raft adaptor protein p18; p27Kip1-releasing factor from RhoA; p27kip1 releasing factor from RhoA; protein associated with DRMs and endosomes; ragulator complex protein PDRO

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.