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FLASH GENE
Symbol LAMTOR2 contributors: mct/pgu - updated : 31-05-2010
HGNC name roadblock domain containing 3
HGNC id 29766
Corresponding disease
MAPBPIPD immunodeficiency due to defect in MAPBP-interacting protein
Location 1q22      Physical location : -
Synonym name
  • endosomal adaptor protein p14
  • late endosomal/lysosomal Mp1-interacting protein
  • mitogen-activated protein-binding protein-interacting protein
  • MAPKSP1 adaptor protein
  • ragulator complex protein LAMTOR2
  • roadblock domain containing 3
  • Synonym symbol(s) HSPC003, p14, RP11-336K24.9, MAPBPIP, ENDAP, MAPKSP1AP, ROBLD3
    DNA
    TYPE functioning gene
    STRUCTURE 3.79 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 699 13 125 - 2001 11266467
  • isoform 1
  • 3 - 609 - 95 - 2001 11266467
  • isoform 2
  • EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Connectiveadipose  highly
    Connectivebonesubchondral  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text anterior rhombomeres, cord blood
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Robld3 (99.2pc)
    homolog to rattus Robld3 (99.2pc)
    Homologene
    FAMILY
  • GAMAD family
  • CATEGORY adaptor , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text peripherally associated with the cytoplasmic face of late endosomes/lysosomes
    basic FUNCTION
  • adapter protein that enhances the efficiency of the MAP kinase cascade
  • might have a previously unrecognized role in the biogenesis of lysosomes, and in control of the configuration of the late endosomal compartment
  • may be involved in endosomal biogenesis
  • facilitates the activation of MAPK2
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the Ragulator complex (MAPKSP1, ROBLD3, LAMTOR1) involved in targeting MTOR to the lysosomal surface and in its activation by amino acids
  • LAMTOR3 is a scaffold protein in the RAF/MEK/ERK pathway and together with LAMTOR2 forms a heterodimer that was shown to be responsible for localization of MEK to the late endosomal compartment
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with MAPK1, MAP2K1
  • a complex encoded by the LAMTOR1, LAMTOR2, LAMTOR3 genes, which we term Ragulator, interacts with the RRAGA, RRAGB, RRAGC, RRAGD, recruits them to lysosomes, and is essential for MTOR activation
  • LAMTOR1 is a binding partner of LAMTOR3/LAMTOR2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MAPBPIPD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS