LAMTOR2

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.

late endosomal/lysosomal adaptor, MAPK and MTOR activator 2

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.

Cellular protein localizationManual Assertion Based On ExperimentIMP:UniProtKB
Cellular response to amino acid stimulusManual Assertion Based On ExperimentIDA:ComplexPortal
Fibroblast migrationIEA:Ensembl
Positive regulation of MAPK cascadeIEA:Ensembl
Positive regulation of TOR signalingManual Assertion Based On ExperimentIMP:UniProtKB
Protein localization to cell junctionIEA:Ensembl
Regulation of cell growthManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of cell-substrate junction organizationManual Assertion Based On ExperimentIMP:MGI

Late endosome membrane
Lysosome membrane

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.