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LAMTOR3 late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 [ Homo sapiens (human) ]

Gene ID: 8649, updated on 1-Jun-2020

Summary

Official Symbol
LAMTOR3provided by HGNC
Official Full Name
late endosomal/lysosomal adaptor, MAPK and MTOR activator 3provided by HGNC
Primary source
HGNC:HGNC:15606
See related
Ensembl:ENSG00000109270 MIM:603296
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
MP1; MAPBP; MAPKSP1; PRO0633; MAP2K1IP1; Ragulator3
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 13.3), brain (RPKM 11.2) and 25 other tissues See more
Orthologs

Genomic context

See LAMTOR3 in Genome Data Viewer
Location:
4q23
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (99878336..99894546, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100799495..100815703, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene chromosome 4 open reading frame 54 Neighboring gene dual adaptor of phosphotyrosine and 3-phosphoinositides 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member B14 Neighboring gene H2A.Z variant histone 1

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
kinase activator activity IEA
Inferred from Electronic Annotation
more info
 
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 
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 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
 
extracellular exosome HDA PubMed 
focal adhesion 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 LAMTOR3
Names
MAPK scaffold protein 1
MEK binding partner 1
late endosomal/lysosomal adaptor and MAPK and MTOR activator 3
mitogen-activated protein kinase kinase 1 interacting protein 1
mitogen-activated protein kinase scaffold protein 1

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.

mRNA and Protein(s)

  1. NM_001243736.1NP_001230665.1  ragulator complex protein LAMTOR3 isoform 2

    See identical proteins and their annotated locations for NP_001230665.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL544981, AP001962, BI562630
    Consensus CDS
    CCDS58920.1
    UniProtKB/Swiss-Prot
    Q9UHA4
    Related
    ENSP00000226522.8, ENST00000226522.8
    Conserved Domains (1) summary
    pfam08923
    Location:3114
    MAPKK1_Int; Mitogen-activated protein kinase kinase 1 interacting
  2. NM_021970.4NP_068805.1  ragulator complex protein LAMTOR3 isoform 1

    See identical proteins and their annotated locations for NP_068805.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF201947, AK022313, AP001962, BC026245, DA300823
    Consensus CDS
    CCDS3652.1
    UniProtKB/Swiss-Prot
    Q9UHA4
    Related
    ENSP00000424183.1, ENST00000499666.7
    Conserved Domains (1) summary
    pfam08923
    Location:3121
    MAPKK1_Int; Mitogen-activated protein kinase kinase 1 interacting

RNA

  1. NR_024170.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon that contains the start codon, compared to variant 1. This variant is represented as non-coding because it lacks an in-frame coding region, compared to variant 1.
    Source sequence(s)
    AK022313, BC110402, BI562630, DA300823

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_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    99878336..99894546 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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