LAMTOR2
entrez
28956
canonical
uniprot
Q9Y2Q5
canonical
ensembl
ENSG00000116586
resolver
ensp
ENSP00000357287
resolver
ensp
ENSP00000357288
resolver
genesymbol
LAMTOR2
resolver
genesymbol_syn
MAPBPIP
resolver
genesymbol_syn
ROBLD3
resolver
hgnc
HGNC:29796
resolver
uniprot
Q5VY97
resolver
uniprot
Q5VY98
resolver
uniprot
Q5VY99
resolver
uniprot_entry
LTOR2_HUMAN
resolver
uniprot_sec
Q5VY97
resolver
uniprot_sec
Q5VY98
resolver
uniprot_sec
Q5VY99
resolver
amino_acid_sequence
MLRPKALTQVLSQANTGGVQSTLLLNNEGSLLAYSGYGDTDARVTAAIASNIWAAYDRNGNQAFNEDNLKFILMDCMEGRVAITRVANLLLCMYAKETVGFGMLKAKAQALVQYLEEPLTQVAAS
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:17195838}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 (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:22053050, 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). {ECO:0000250|UniProtKB:Q9JHS3, ECO:0000269|PubMed:20381137, ECO:0000269|PubMed:22053050, ECO:0000269|PubMed:22980980, ECO:0000269|PubMed:28935770, ECO:0000269|PubMed:29107538, ECO:0000269|PubMed:29123114, ECO:0000269|PubMed:29158492, ECO:0000269|PubMed:30181260}.
uniprot
proteins
mass_dalton
13508
uniprot
proteins
mutagenesis
MUTAGEN 41..43; /note="DAR->AAA: In M6 mutant; impaired assembly of the Ragulator complex."; /evidence="ECO:0000269|PubMed:31601708"; MUTAGEN 44..47; /note="VTAA->DTAD: In M7 mutant; impaired association with Rag GTPases."; /evidence="ECO:0000269|PubMed:31601708
uniprot
proteins
protein_family
GAMAD family
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17195838
uniprot
proteins
pubmed
17897319
uniprot
proteins
pubmed
20381137
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22053050
uniprot
proteins
pubmed
22980980
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25561175
uniprot
proteins
pubmed
25567906
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28935770
uniprot
proteins
pubmed
29107538
uniprot
proteins
pubmed
29123114
uniprot
proteins
pubmed
29158492
uniprot
proteins
pubmed
29285400
uniprot
proteins
pubmed
30181260
uniprot
proteins
pubmed
31601708
uniprot
proteins
pubmed
31672913
uniprot
proteins
pubmed
31704029
uniprot
proteins
pubmed
32868926
uniprot
proteins
pubmed
35338845
uniprot
proteins
pubmed
36103527
uniprot
proteins
pubmed
36697823
uniprot
proteins
sequence_length
125
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000250|UniProtKB:Q9JHS3}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9JHS3}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9JHS3}. Lysosome membrane {ECO:0000269|PubMed:17897319}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9JHS3}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9JHS3}. Note=Recruited to lysosome and endosome membranes by LAMTOR1. {ECO:0000250|UniProtKB:Q9JHS3}.
uniprot
proteins