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

Gene ID: 55004, updated on 13-May-2022

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; AllianceGenome:HGNC:26068
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
Summary
Enables GTPase binding activity. Contributes to guanyl-nucleotide exchange factor activity and molecular adaptor activity. Involved in several processes, including cholesterol homeostasis; positive regulation of TOR signaling; and regulation of cholesterol transport. Located in lysosome. Part of Ragulator complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 58.6), adrenal (RPKM 40.5) and 25 other tissues See more
Orthologs
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Genomic context

See LAMTOR1 in Genome Data Viewer
Location:
11q13.4
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (72097292..72103297, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (72024182..72030187, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (71808338..71814343, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene nuclear mitotic apparatus protein 1 Neighboring gene microRNA 3165 Neighboring gene leucine rich repeat containing 51 Neighboring gene leucine rich transmembrane and O-methyltransferase domain containing Neighboring gene small nucleolar RNA U13 Neighboring gene anaphase promoting complex subunit 15 Neighboring gene transmembrane O-methyltransferase

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20625

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 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 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in TORC1 signaling IC
Inferred by Curator
more info
PubMed 
involved_in cellular protein localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to amino acid stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular response to amino acid stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to amino acid stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cholesterol homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endosomal transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endosome organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lysosome localization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lysosome organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cholesterol efflux IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cholesterol esterification IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cholesterol import IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of receptor recycling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of receptor recycling ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
part_of Ragulator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of Ragulator complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of Ragulator complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in azurophil granule membrane TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
located_in late endosome membrane IC
Inferred by Curator
more info
PubMed 
located_in late endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in lysosomal membrane IC
Inferred by Curator
more info
PubMed 
located_in lysosomal membrane TAS
Traceable Author Statement
more info
 
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in specific granule membrane TAS
Traceable Author Statement
more info
 

General protein information

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.

mRNA and Protein(s)

  1. NM_017907.3NP_060377.1  ragulator complex protein LAMTOR1

    See identical proteins and their annotated locations for NP_060377.1

    Status: VALIDATED

    Source sequence(s)
    AK000632, BC001706, BX381569
    Consensus CDS
    CCDS8209.1
    UniProtKB/Swiss-Prot
    Q6IAA8
    Related
    ENSP00000278671.5, ENST00000278671.10
    Conserved Domains (1) summary
    pfam15454
    Location:2185
    LAMTOR; Late endosomal/lysosomal adaptor and MAPK and MTOR activator

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    72097292..72103297 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    72024182..72030187 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)