MIOS
entrez
54468
canonical
uniprot
Q9NXC5
canonical
ensembl
ENSG00000164654
resolver
ensp
ENSP00000339881
resolver
ensp
ENSP00000384088
resolver
ensp
ENSP00000569915
resolver
ensp
ENSP00000569916
resolver
ensp
ENSP00000569917
resolver
ensp
ENSP00000569918
resolver
ensp
ENSP00000569919
resolver
ensp
ENSP00000569921
resolver
ensp
ENSP00000569924
resolver
ensp
ENSP00000634003
resolver
ensp
ENSP00000699975
resolver
genesymbol
MIOS
resolver
hgnc
HGNC:21905
resolver
uniprot
B2RTV6
resolver
uniprot
O75216
resolver
uniprot
Q7L551
resolver
uniprot
Q9H092
resolver
uniprot_entry
MIOS_HUMAN
resolver
uniprot_sec
B2RTV6
resolver
uniprot_sec
O75216
resolver
uniprot_sec
Q7L551
resolver
uniprot_sec
Q9H092
resolver
activity_regulation
ACTIVITY REGULATION: The GATOR2 complex is negatively regulated by the upstream amino acid sensors CASTOR1 and SESN2, which sequester the GATOR2 complex in absence of amino acids (PubMed:25263562, PubMed:26586190, PubMed:26972053, PubMed:27487210, PubMed:35831510). In the presence of abundant amino acids, GATOR2 is released from CASTOR1 and SESN2 and activated (PubMed:25263562, PubMed:26586190, PubMed:26972053, PubMed:27487210, PubMed:35831510). {ECO:0000269|PubMed:25263562, ECO:0000269|PubMed:26586190, ECO:0000269|PubMed:26972053, ECO:0000269|PubMed:27487210, ECO:0000269|PubMed:35831510}.
uniprot
proteins
amino_acid_sequence
MSGTKPDILWAPHHVDRFVVCDSELSLYHVESTVNSELKAGSLRLSEDSAATLLSINSDTPYMKCVAWYLNYDPECLLAVGQANGRVVLTSLGQDHNSKFKDLIGKEFVPKHARQCNTLAWNPLDSNWLAAGLDKHRADFSVLIWDICSKYTPDIVPMEKVKLSAGETETTLLVTKPLYELGQNDACLSLCWLPRDQKLLLAGMHRNLAIFDLRNTSQKMFVNTKAVQGVTVDPYFHDRVASFYEGQVAIWDLRKFEKPVLTLTEQPKPLTKVAWCPTRTGLLATLTRDSNIIRLYDMQHTPTPIGDETEPTIIERSVQPCDNYIASFAWHPTSQNRMIVVTPNRTMSDFTVFERISLAWSPITSLMWACGRHLYECTEEENDNSLEKDIATKMRLRALSRYGLDTEQVWRNHILAGNEDPQLKSLWYTLHFMKQYTEDMDQKSPGNKGSLVYAGIKSIVKSSLGMVESSRHNWSGLDKQSDIQNLNEERILALQLCGWIKKGTDVDVGPFLNSLVQEGEWERAAAVALFNLDIRRAIQILNEGASSEKGDLNLNVVAMALSGYTDEKNSLWREMCSTLRLQLNNPYLCVMFAFLTSETGSYDGVLYENKVAVRDRVAFACKFLSDTQLNRYIEKLTNEMKEAGNLEGILLTGLTKDGVDLMESYVDRTGDVQTASYCMLQGSPLDVLKDERVQYWIENYRNLLDAWRFWHKRAEFDIHRSKLDPSSKPLAQVFVSCNFCGKSISYSCSAVPHQGRGFSQYGVSGSPTKSKVTSCPGCRKPLPRCALCLINMGTPVSSCPGGTKSDEKVDLSKDKKLAQFNNWFTWCHNCRHGGHAGHMLSWFRDHAECPVSACTCKCMQLDTTGNLVPAETVQP
uniprot
proteins
function
FUNCTION: As a component of the GATOR2 complex, functions as an activator of the amino acid-sensing branch of the mTORC1 signaling pathway (PubMed:23723238, PubMed:26586190, PubMed:27487210, PubMed:35831510, PubMed:36528027). The GATOR2 complex indirectly activates mTORC1 through the inhibition of the GATOR1 subcomplex (PubMed:23723238, PubMed:26586190, PubMed:27487210, PubMed:35831510, PubMed:36528027). GATOR2 probably acts as an E3 ubiquitin-protein ligase toward GATOR1 (PubMed:36528027). In the presence of abundant amino acids, the GATOR2 complex mediates ubiquitination of the NPRL2 core component of the GATOR1 complex, leading to GATOR1 inactivation (PubMed:36528027). In the absence of amino acids, GATOR2 is inhibited, activating the GATOR1 complex (PubMed:25263562, PubMed:25457612, PubMed:26586190, PubMed:27487210). Within the GATOR2 complex, MIOS is required to prevent autoubiquitination of WDR24, the catalytic subunit of the complex (PubMed:35831510). The GATOR2 complex is required for brain myelination (By similarity). {ECO:0000250|UniProtKB:Q8VE19, ECO:0000269|PubMed:23723238, ECO:0000269|PubMed:25263562, ECO:0000269|PubMed:25457612, ECO:0000269|PubMed:26586190, ECO:0000269|PubMed:27487210, ECO:0000269|PubMed:35831510, ECO:0000269|PubMed:36528027}.
uniprot
proteins
mass_dalton
98584
uniprot
proteins
mutagenesis
MUTAGEN 560; /note="A->E: Impaired assembly of the GATOR2 complex."; /evidence="ECO:0000269|PubMed:35831510"; MUTAGEN 785..788; /note="CALC->AALA: Impaired amino-acid-mediated mTORC1 activation."; /evidence="ECO:0000269|PubMed:36528027
uniprot
proteins
protein_family
WD repeat mio family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23723238
uniprot
proteins
pubmed
25263562
uniprot
proteins
pubmed
25457612
uniprot
proteins
pubmed
26586190
uniprot
proteins
pubmed
26972053
uniprot
proteins
pubmed
27487210
uniprot
proteins
pubmed
28199306
uniprot
proteins
pubmed
34290409
uniprot
proteins
pubmed
35831510
uniprot
proteins
pubmed
36528027
uniprot
proteins
sequence_length
875
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:28199306}.
uniprot
proteins