Version 5.4
Homo sapiens Protein: NPRL3
Summary
InnateDB Protein IDBP-229360.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NPRL3
Protein Name nitrogen permease regulator-like 3 (S. cerevisiae)
Synonyms C16orf35; CGTHBA; HS-40; MARE; NPR3; RMD11;
Species Homo sapiens
Ensembl Protein ENSP00000382834
InnateDB Gene IDBG-6951 (NPRL3)
Protein Structure
UniProt Annotation
Function As a component of the GATOR1 complex, inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC- containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. {ECO:0000269PubMed:23723238}.
Subcellular Localization
Disease Associations 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:0000269PubMed:23723238}.
Tissue Specificity Widely expressed.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein-Protein 6 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005096 GTPase activator activity
Biological Process
GO:0008150 biological_process
GO:0043547 positive regulation of GTPase activity
Cellular Component
GO:0005575 cellular_component
Protein Structure and Domains
PDB ID
InterPro IPR005365 Nitrogen permease regulator 3
IPR008979 Galactose-binding domain-like
PFAM PF03666
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q12980
PhosphoSite PhosphoSite-Q12980
TrEMBL Q9BTE2
UniProt Splice Variant
Entrez Gene 8131
UniGene Hs.668998
RefSeq NP_001230178
HUGO HGNC:14124
OMIM 600928
CCDS CCDS73794
HPRD 11866
IMGT
EMBL AK090717 AK298795 AK300736 BC004185 BC012825 CH471112 DQ431198 X90857 Z69666 Z69720 Z84722
GenPept AAH04185 AAH12825 ABD95907 BAG52219 BAH12872 BAH13336 CAA62368 CAI94885 CAI94886 CAI95611 CAI95612 EAW85865 EAW85867 EAW85868

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca