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LAMTOR2/ROBLD3/MAPBPIP Protein, Antibody, ELISA Kit, cDNA Clone

LAMTOR2/ROBLD3/MAPBPIP Related Areas

LAMTOR2/ROBLD3/MAPBPIP Related Pathways

LAMTOR2/ROBLD3/MAPBPIP Related Product

    LAMTOR2/ROBLD3/MAPBPIP Summary & Protein Information

    LAMTOR2/ROBLD3/MAPBPIP Background

    Gene 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
    General information above from NCBI
    Subunit structure: Interacts with MAPK1 and MAP2K1 (By similarity). Part of the Ragulator complex composed of LAMTOR1, LAMTOR2, LAMTOR3, LAMTOR4 and LAMTOR5. LAMTOR4 and LAMTOR5 form a heterodimer that interacts, through LAMTOR1, with a LAMTOR2, LAMTOR3 heterodimer. The Ragulator complex interacts with both the mTORC1 complex and heterodimers constituted of the Rag GTPases RRAGA, RRAGB, RRAGC and RRAGD; regulated by amino acid availability. Interacts with LAMTOR1 and LAMTOR3; the interaction is direct.
    Subcellular location: Late endosome membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Lysosome membrane; Peripheral membrane protein; Cytoplasmic side (By similarity).
    Involvement in disease: Immunodeficiency due to defect in MAPBP-interacting protein (ID-MAPBPIP) [MIM:610798]: This form of primary immunodeficiency syndrome includes congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Sequence similarity: Belongs to the GAMAD family.
    General information above from UniProt

    Ragulator complex protein LAMTOR2, also known as 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, Roadblock domain-containing protein 3, LAMTOR2, MAPBPIP and ROBLD3, is a protein which belongs to the GAMAD family. LAMTOR2 / ROBLD3 is a regulator of the TOR pathway, a signaling cascade that promotes cell growth in response to growth factors, energy levels, and amino acids. As part of the Ragulator complex, LAMTOR2 / ROBLD3 recruits the Rag GTPases and the mTORC1 complex to lysosomes, a key step in activation of the TOR signaling cascade by amino acids. LAMTOR2 / ROBLD3 is an adapter protein that enhances the efficiency of the MAP kinase cascade facilitating the activation of MAPK2. Defects in LAMTOR2 are the cause of immunodeficiency due to defect in MAPBP-interacting protein (ID-MAPBPIP). This form of primary immunodeficiency syndrome includes congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency.

    LAMTOR2/ROBLD3/MAPBPIP Alternative Name

    HSPC003,LAMTOR2,Ragulator2,ROBLD3,RP11-336K24.9,P14,ENDAP,MAPBPIP,MAPKSP1AP, [human]
    2010111E04Rik,AL022628,Lamtor2,Mapbpip,P14,Rab25,Robld3, [mouse]

    LAMTOR2/ROBLD3/MAPBPIP Related Studies

  • Schroeder B., et al., 2007, Traffic 8:1676-1686.
  • Bohn G., et al., 2007, Nat. Med. 13:38-45.
  • Sancak Y., et al., 2010, Cell 141:290-303.
  • Burkard T.R., et al., 2011, BMC Syst. Biol. 5:17-17.
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