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LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 [ Homo sapiens (human) ]

Gene ID: 28956, updated on 5-Jul-2020

Summary

Official Symbol
LAMTOR2provided by HGNC
Official Full Name
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2provided by HGNC
Primary source
HGNC:HGNC:29796
See related
Ensembl:ENSG00000116586 MIM:610389
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p14; ENDAP; ROBLD3; HSPC003; MAPBPIP; MAPKSP1AP; Ragulator2
Summary
The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
Expression
Ubiquitous expression in kidney (RPKM 22.1), liver (RPKM 22.0) and 25 other tissues See more
Orthologs

Genomic context

See LAMTOR2 in Genome Data Viewer
Location:
1q22
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (156054782..156058506)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156024517..156028301)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene signal sequence receptor subunit 2 Neighboring gene uncharacterized LOC105371729 Neighboring gene ubiquilin 4 Neighboring gene RAB25, member RAS oncogene family Neighboring gene mex-3 RNA binding family member A

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?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 (LAMTOR2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
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
MAPK cascade TAS
Traceable Author Statement
more info
 
activation of MAPKK activity IEA
Inferred from Electronic Annotation
more info
 
cell cycle arrest TAS
Traceable Author Statement
more info
 
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 
fibroblast migration IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of TOR signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to cell junction IEA
Inferred from Electronic Annotation
more info
 
regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of macroautophagy TAS
Traceable Author Statement
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 
endosome membrane TAS
Traceable Author Statement
more info
 
late endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
lysosomal membrane HDA PubMed 
lysosomal membrane TAS
Traceable Author Statement
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
specific granule membrane TAS
Traceable Author Statement
more info
 
tertiary granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ragulator complex protein LAMTOR2
Names
MAPBP-interacting protein
MAPKSP1 adaptor protein
endosomal adaptor protein p14
late endosomal/lysosomal Mp1-interacting protein
late endosomal/lysosomal adaptor and MAPK and MTOR activator 2
mitogen-activated protein-binding protein-interacting protein (MAPBPIP)
roadblock domain containing 3
roadblock domain-containing protein 3

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_009898.1 RefSeqGene

    Range
    5001..8785
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_81

mRNA and Protein(s)

  1. NM_001145264.2NP_001138736.1  ragulator complex protein LAMTOR2 isoform 2

    See identical proteins and their annotated locations for NP_001138736.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AL355388, BU184679
    Consensus CDS
    CCDS44243.1
    UniProtKB/Swiss-Prot
    Q9Y2Q5
    Related
    ENSP00000357287.5, ENST00000368304.9
    Conserved Domains (1) summary
    pfam03259
    Location:877
    Robl_LC7; Roadblock/LC7 domain
  2. NM_014017.4NP_054736.1  ragulator complex protein LAMTOR2 isoform 1

    See identical proteins and their annotated locations for NP_054736.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL355388, BC024190, CA438137
    Consensus CDS
    CCDS1128.1
    UniProtKB/Swiss-Prot
    Q9Y2Q5
    Related
    ENSP00000357288.4, ENST00000368305.9
    Conserved Domains (1) summary
    pfam03259
    Location:895
    Robl_LC7; Roadblock/LC7 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    156054782..156058506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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