NPRL3

The function of the encoded protein is not known.

Full Name

nitrogen permease regulator-like 3

Function

As a component of the GATOR1 complex functions as an 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. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.

Biological Process

Aorta morphogenesisIEA:Ensembl
Cardiac muscle tissue developmentIEA:Ensembl
Cellular response to amino acid starvationManual Assertion Based On ExperimentIMP:UniProtKB
Negative regulation of TOR signalingManual Assertion Based On ExperimentIMP:SGD
Negative regulation of TORC1 signalingManual Assertion Based On ExperimentIBA:GO_Central
Positive regulation of autophagyManual Assertion Based On ExperimentIBA:GO_Central
Roof of mouth developmentIEA:Ensembl
TORC1 signalingManual Assertion Based On ExperimentIBA:GO_Central
Ventricular septum developmentIEA:Ensembl

Cellular Location

Lysosome membrane
Localization to lysosomes is amino acid-independent.

Involvement in disease

Epilepsy, familial focal, with variable foci 3 (FFEVF3):
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.