Description: Homo sapiens late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 (LAMTOR2), transcript variant 1, mRNA. RefSeq Summary (NM_014017): 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]. Transcript (Including UTRs) Position: hg19 chr1:156,024,517-156,028,605 Size: 4,089 Total Exon Count: 4 Strand: + Coding Region Position: hg19 chr1:156,024,681-156,028,162 Size: 3,482 Coding Exon Count: 4
ID:LTOR2_HUMAN DESCRIPTION: RecName: Full=Ragulator complex protein LAMTOR2; AltName: Full=Endosomal adaptor protein p14; AltName: Full=Late endosomal/lysosomal Mp1-interacting protein; AltName: Full=Late endosomal/lysosomal adaptor and MAPK and MTOR activator 2; AltName: Full=Mitogen-activated protein-binding protein-interacting protein; AltName: Full=Roadblock domain-containing protein 3; FUNCTION: As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. Adapter protein that enhances the efficiency of the MAP kinase cascade facilitating the activation of MAPK2. SUBUNIT: Interacts with MAPK1 and MAP2K1 (By similarity). Part of the Ragulator complex composed of LAMTOR1, LAMTOR2, LAMTOR3, LAMTOR4 and LAMTOR5. LAMTOR4 and LAMTOR5 form an 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. INTERACTION: Q9UHA4:LAMTOR3; NbExp=3; IntAct=EBI-2643704, EBI-1038192; SUBCELLULAR LOCATION: Late endosome membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Lysosome membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). DISEASE: Defects in LAMTOR2 are the cause of 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. SIMILARITY: Belongs to the GAMAD family. WEB RESOURCE: Name=MAPBPIPbase; Note=ROBLD3 mutation db; URL="http://bioinf.uta.fi/MAPBPIPbase/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y2Q5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.