NPRL3
entrez
8131
canonical
uniprot
Q12980
canonical
ensembl
ENSG00000103148
resolver
ensp
ENSP00000382834
resolver
ensp
ENSP00000478273
resolver
ensp
ENSP00000552189
resolver
ensp
ENSP00000552190
resolver
ensp
ENSP00000552191
resolver
ensp
ENSP00000552192
resolver
ensp
ENSP00000552193
resolver
ensp
ENSP00000552194
resolver
ensp
ENSP00000552195
resolver
ensp
ENSP00000552198
resolver
ensp
ENSP00000552200
resolver
ensp
ENSP00000552201
resolver
ensp
ENSP00000552205
resolver
ensp
ENSP00000552206
resolver
ensp
ENSP00000552207
resolver
ensp
ENSP00000552211
resolver
ensp
ENSP00000552221
resolver
ensp
ENSP00000552222
resolver
ensp
ENSP00000552223
resolver
ensp
ENSP00000552225
resolver
ensp
ENSP00000552226
resolver
ensp
ENSP00000552227
resolver
ensp
ENSP00000552229
resolver
ensp
ENSP00000552236
resolver
ensp
ENSP00000591503
resolver
ensp
ENSP00000591504
resolver
ensp
ENSP00000591505
resolver
ensp
ENSP00000591506
resolver
ensp
ENSP00000591507
resolver
ensp
ENSP00000626288
resolver
ensp
ENSP00000626290
resolver
enst
ENST00000399953
resolver
enst
ENST00000611875
resolver
enst
ENST00000882130
resolver
enst
ENST00000882131
resolver
enst
ENST00000882132
resolver
enst
ENST00000882133
resolver
enst
ENST00000882134
resolver
enst
ENST00000882135
resolver
enst
ENST00000882136
resolver
enst
ENST00000882139
resolver
enst
ENST00000882141
resolver
enst
ENST00000882142
resolver
enst
ENST00000882146
resolver
enst
ENST00000882147
resolver
enst
ENST00000882148
resolver
enst
ENST00000882152
resolver
enst
ENST00000882162
resolver
enst
ENST00000882163
resolver
enst
ENST00000882164
resolver
enst
ENST00000882166
resolver
enst
ENST00000882167
resolver
enst
ENST00000882168
resolver
enst
ENST00000882170
resolver
enst
ENST00000921444
resolver
enst
ENST00000921445
resolver
enst
ENST00000921446
resolver
enst
ENST00000921447
resolver
enst
ENST00000921448
resolver
enst
ENST00000956229
resolver
enst
ENST00000956231
resolver
genesymbol
C16orf35
resolver
genesymbol
NPRL3
resolver
genesymbol_syn
C16orf35
resolver
genesymbol_syn
CGTHBA
resolver
genesymbol_syn
MARE
resolver
hgnc
HGNC:14124
resolver
uniprot
A0ACI8T2J3
resolver
uniprot
B7Z220
resolver
uniprot
B7Z6Q0
resolver
uniprot
D3DU40
resolver
uniprot
Q1W6H0
resolver
uniprot
Q4TT56
resolver
uniprot
Q92469
resolver
uniprot
Q9BTE2
resolver
uniprot_entry
A0ACI8T2J3_HUMAN
resolver
uniprot_entry
B7Z220_HUMAN
resolver
uniprot_entry
B7Z6Q0_HUMAN
resolver
uniprot_entry
NPRL3_HUMAN
resolver
uniprot_entry
Q9BTE2_HUMAN
resolver
uniprot_sec
D3DU40
resolver
uniprot_sec
Q1W6H0
resolver
uniprot_sec
Q4TT56
resolver
uniprot_sec
Q92469
resolver
amino_acid_sequence
MRDNTSPISVILVSSGSRGNKLLFRYPFQRSQEHPASQTSKPRSRYAASNTGDHADEQDGDSRFSDVILATILATKSEMCGQKFELKIDNVRFVGHPTLLQHALGQISKTDPSPKREAPTMILFNVVFALRANADPSVINCLHNLSRRIATVLQHEERRCQYLTREAKLILALQDEVSAMADGNEGPQSPFHHILPKCKLARDLKEAYDSLCTSGVVRLHINSWLEVSFCLPHKIHYAASSLIPPEAIERSLKAIRPYHALLLLSDEKSLLGELPIDCSPALVRVIKTTSAVKNLQQLAQDADLALLQVFQLAAHLVYWGKAIIIYPLCENNVYMLSPNASVCLYSPLAEQFSHQFPSHDLPSVLAKFSLPVSLSEFRNPLAPAVQETQLIQMVVWMLQRRLLIQLHTYVCLMASPSEEEPRPREDDVPFTARVGGRSLSTPNALSFGSPTSSDDMTLTSPSMDNSSAELLPSGDSPLNQRMTENLLASLSEHERAAILSVPAAQNPEDLRMFARLLHYFRGRHHLEEIMYNENTRRSQLLMLFDKFRSVLVVTTHEDPVIAVFQALLP
uniprot
proteins
disease_involvement
DISEASE: Note=Inactivating mutations and truncating deletions in the genes encoding GATOR1 proteins are detected in glioblastoma and ovarian tumors and are associated with loss of heterozygosity events. Inactivation of GATOR1 proteins promotes constitutive localization of mTORC1 to the lysosomal membrane and blocks mTORC1 inactivation following amino acid withdrawal (PubMed:23723238). {ECO:0000269|PubMed:23723238}.; DISEASE: Epilepsy, familial focal, with variable foci 3 (FFEVF3) [MIM:617118]: An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete. {ECO:0000269|PubMed:26285051, ECO:0000269|PubMed:26505888, ECO:0000269|PubMed:27173016}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway (PubMed:23723238, PubMed:29590090, PubMed:35338845). In response to amino acid depletion, the GATOR1 complex has GTPase activating protein (GAP) activity and strongly increases GTP hydrolysis by RagA/RRAGA (or RagB/RRAGB) within heterodimeric Rag complexes, thereby turning them into their inactive GDP-bound form, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling (PubMed:23723238, PubMed:29590090, PubMed:35338845). In the presence of abundant amino acids, the GATOR1 complex is negatively regulated by GATOR2, the other GATOR subcomplex, in this amino acid-sensing branch of the TORC1 pathway (PubMed:23723238). {ECO:0000269|PubMed:23723238, ECO:0000269|PubMed:29590090, ECO:0000269|PubMed:35338845}.
uniprot
proteins
mass_dalton
63605
uniprot
proteins
protein_family
NPR3 family
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16728641
uniprot
proteins
pubmed
19521502
uniprot
proteins
pubmed
23723238
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26285051
uniprot
proteins
pubmed
26505888
uniprot
proteins
pubmed
27173016
uniprot
proteins
pubmed
28199306
uniprot
proteins
pubmed
29590090
uniprot
proteins
pubmed
35338845
uniprot
proteins
pubmed
36007018
uniprot
proteins
pubmed
8575760
uniprot
proteins
sequence_length
569
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:28199306}. Note=Localization to lysosomes is mediated by the KICSTOR complex and is amino acid-independent. {ECO:0000269|PubMed:28199306}.
uniprot
proteins