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 (PubMed:20381137, PubMed:28935770, PubMed:29107538, PubMed:29123114, PubMed:29158492). Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator plays a dual role for the small GTPases Rag (RagA/RRAGA, RagB/RRAGB, RagC/RRAGC and/or RagD/RRAGD): it (1) acts as a guanine nucleotide exchange factor (GEF), activating the small GTPases Rag and (2) mediates recruitment of Rag GTPases to the lysosome membrane (PubMed:22980980, PubMed:28935770, PubMed:29107538, PubMed:29123114, PubMed:29158492, PubMed:30181260). Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated (PubMed:22980980, PubMed:29107538, PubMed:29123114, PubMed:29158492). Adapter protein that enhances the efficiency of the MAP kinase cascade facilitating the activation of MAPK2 (By similarity).
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the GAMAD family.
MAPBPIP, ROBLD3, HSPC003, LAMTOR2, Ragulator complex protein LAMTOR2, 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, MAPBP-interacting protein
Proteins
Neuroscience
13508Da
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